Primary extrauterine endometrial stromal sarcoma with multiple organ invasion: A case report

Primary extrauterine endometrial stromal sarcoma with multiple organ invasion: A case report | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Primary extrauterine endometrial stromal sarcoma with multiple organ invasion: A case report Yan Xu, Jumin Niu, Yang Zhou, Xiaocui Nie, Yansong Liu This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-3972555/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background: Primary extrauterine endometrioid stromal sarcoma (EESS) are rarer tumors that occur outside the uterus and do not involve the uterus. Case presentation: We report a case of low-grade extrauterine endometrial stromal sarcoma of the pelvic and colorectum. A 46-year-old woman, who complained of diarrhea with yellow mucus-like or elongated stools for more than 2 months, came to our hospital with colonoscopy and CT results that raised suspicion of colorectal cancer but also pathological examination results indicative of endometriosis. As the intraoperative pathology of the omentum and ovary revealed endometrial stromal sarcoma, and part of the sigmoid and rectum were obviously thickened and stiff, we performed cytoreductive surgery including removal of the uterus, bilateral fallopian tubes, bilateral ovaries, part of the colorectum, omentum majus, and metastatic lesions. Postoperative pathology revealed that the pelvic mass and segments from the colorectum were consistent with low-grade endometrial stromal sarcoma. Long-term oral administration of Letrozole, 2.5mg/day and Farlutal, 500mg/day was prescribed. During follow-up of the patient, the pelvic peritoneal examination results were negative, and has remained disease-free at 48-months post-surgery. Conclusion: We report a rare case of simultaneous endometrial stromal sarcoma of the pelvic and colorectum. endometrial stromal sarcoma extrauterine rectum colon Figures Figure 1 Figure 2 Figure 3 Figure 4 Background Low-grade endometrial stromal sarcoma is a malignant tumor originating from endometrial stromal tissue, accounting for about 0.2% of all uterine malignancies [ 1 ] . Primary low-grade extrauterine endometrial stromal sarcomas (EESS) are even rarer tumors that arise de novo at extrauterine sites, with no uterine involvement. We report a case of primary pelvic and colorectal ESS and review relevant literature to summarize its etiology, pathogenesis, and treatment. Case presentation A 47-year-old woman, who complained of diarrhea with yellow mucus-like or elongated stools for more than 2 months, came to our hospital. There was no relevant family history and no history of other significant diseases. Laboratory analysis was not significant except for a slight increase in CA-125 of 65.4 U/mL (normal range, 2.5–30 U/mL). Colonoscopy biopsy at an external hospital showed inflammatory polyps, while peritoneal puncture biopsy in the omentum showed endometriosis, but low-grade endometrioid stromal sarcoma was not completely excluded. Subsequent contrast-enhanced CT revealed thickened intestinal walls of the sigmoid colon and rectum(Fig. 1 A-B), as well as multiple irregular soft tissues in the abdomen and pelvis, leading to suspicion of colorectal cancer with multiple metastases. Based on these findings, colorectal cancer with metastases could not be excluded. A second colonoscopy and biopsy were performed according to the CT findings and pathological results indicated that the sigmoid lesions were endometriosis. According to pathological results, the patient was diagnosed with intestinal endometriosis and was given a subcutaneous injection of Gonadotropin-releasing hormone analogues (GnRh-a). After medication, she had 2.3 bowel movements per day, with normal characteristics. Laparoscopic exploration Diffuse miliary nodules were found on the surface of the pelvic peritoneum, with yellow-white and brittle characteristics. Inflammatory follicular-like changes were seen on the surface of the anterior wall of the uterus. Both sides of the ovaries, fallopian tubes and colorectum were attached to the posterior wall of the uterus (Fig. 2 A). The adhesion of the posterior wall of the uterus to the double adnexa and surface of the rectum was yellowish-white, poor brittle, and relatively loose, resembling necrosis. Both ovaries had atrophic changes, and miliary nodules were observed on the surface that were about 2 cm in diameter. Part of the sigmoid colon and rectum were obviously thickened and stiff with a hard texture, and the surface was covered with multiple yellowish-white brittle necrotic tissues(Fig. 2 B). A contracture of the greater omentum appeared as a nodule. Cytoreductive surgery was performed that included removal of the uterus, bilateral fallopian tubes, bilateral ovaries, part of the rectum colon, omentum majus, and metastatic lesions. (A)Both ovaries, fallopian tubes and colorectum were attached to the posterior wall of the uterus. (B)Part of the rectum and sigmoid colon were obviously thickened and stiff . Pathological observations of specimens The size of the uterus was about 6×6 cm, with a smooth endometrium(Fig. 3 A). The wall of the isolated colorectum tube was significantly thickened and yellowish white(Fig. 3 B). The intestinal tube lining was smooth, with a slightly convex local part(Fig. 3 C). The length of the excised intestine was about 17 cm(Fig. 3 D). (A)The size of the uterus was about 6×6 cm, with a smooth endometrium. (B)The wall of the isolated colorectum tube was significantly thickened.(C)The intestinal tube lining was smooth.(D)The length of the excised intestine was about 17 cm. Histologically, the tumor margin was extensive and invasive, and the tumor cells were irregularly serrated and linguoid. Many tumor nodules consisted of uniform, loose bundles of elliptical to fusiform tumor cells with slightly darker nuclei and sparse cytoplasm(Fig. 4 A). In this case, significant vascular infiltration was found (Fig. 4 B). Endometriosis can be seen in some diseased tissues (Fig. 4 C). Immunohistochemistry revealed that the tumor cells were diffusely and strongly positive for estrogen receptor (ER)(Fig. 4 D), progesterone receptor (PR)(Fig. 4 E), CD10(Fig. 4 F), WT1 and vimentin. The tumor cells were uniformly negative for HMB-45, Melan-A, Ber-ER4, EMA, pan-CK, D2-40, PaX-8, CD117, DOG-1, Calretinin, inhibin-a and CycinD1. The morphologic and immunohistochemical features, in addition to the absence of endometrial stromal lesions elsewhere, confirmed the diagnosis of primary low-grade EESS in the left ovary, left fallopian tube, omentum, and pelvic abdominal wall. Long-term oral administration of Letrozole (2.5mg/day) and (Farlutal, 500mg/day) was prescribed. During the follow-up of the patient, the pelvic peritoneal examination results were negative, and the patient remained disease-free at 48-months, with no signs or symptoms of recurrent or advanced disease. Signed written consent was obtained from the patient for this case report. (A)Low-grade EESS involving the colonic wall and protruding into the lumen; characteristic tongues of invasion are seen in the colonic wall(H&E,×100).(B)Vascular infiltration was observed in the lesion(H&E,×100).(C)Low-grade EESS can be seen in association with endometriosis(H&E,×100).Immunohistochemistry confirmed positive ER (D), and PR expression (E)and CD10 (F).(×100). Discussion and Conclusions EESS is a rare mesenchymal neoplasm of the uterus that is predominantly composed of endometrial stromal cells. Primary extrauterine EESS originates from extrauterine organs without intrauterine lesions. The site of primary extrauterine EESS most commonly involves the ovaries [ 2 ] , other pelvic organs, sigmoid rectum [ 3 ] , small intestine and vagina [ 4 , 5 ] , with a few cases occurring in the lungs [ 6 , 7 ] . In this case, the ovary, omentum, and colorectum were involved, making it a more serious and complicated condition of EESS. The clinical signs and symptoms of EESS depend on the affected sites [ 7 , 8 ] . When they occur in the external position of the uterus, non-gynecological signs and symptoms occur. Commonly reported affected sites are usually those where endometriosis occurs, including the abdominal pelvic area, especially the peritoneal surface, intestinal wall, ovaries, pelvis, vagina, bladder, retroperitoneal, lymph nodes, and fallopian tubes. Therefore, common symptoms often include abdominal/pelvic lumps and pain, abnormal vaginal bleeding, gastrointestinal symptoms (such as vomiting, constipation, bleeding, and small bowel obstruction), and urinary tract symptoms (such as hematuria, urgency to urinate, frequent urination, and incontinence) [ 9 ] . The patient's first symptom in this case report was diarrhea. The presence of different histological features and the lack of unique immunohistochemical features can create diagnostic dilemmas and lead to inaccurate diagnoses. In this case, the patient was examined several times and was considered to have intestinal carcinoma or endometriosis. The pathogenesis of primary EESS is still unclear, and there are several hypotheses to explain its pathogenesis. One speculation attributes EESS pathogenesis to an endometriosis malignancy, which is supported by many case reports where endometriosis lesions are found in tissues adjacent to tumors in EESS [ 7 , 10 , 11 ] . Son et al. explained that ESS has a high incidence in the rectum and sigmoid colon [ 3 ] . In our case, we found histological evidence of endometriosis in excised colorectal specimens, which may be associated with endometriosis malignancy. Another hypothesis is that EESS occurring in the fallopian tubes, ovaries, and peritoneum of the pelvis may develop from malignant degeneration of Muller cells, which are widely distributed in the pelvic cavity and peritoneum [ 12 , 13 ] . However, this hypothesis cannot be applied to EESS that originates from coelomic epithelium, such as the vagina, lung, liver, etc. Therefore, further accumulation of EESS cases is still needed for further research. Molecular-based hypothesis studies have shown that endometrial stromal sarcomas (ESS) can be genetically heterogeneous. The most common alteration carried by low-grade ESS is the t (7;17) (p15;q21) translocation, which produces the JAZF1–SUZ12 gene fusion (also known as JJAZ1) [ 14 ] . AmadorOrtiz et al. found that JAZF1 fusion occurrs in 33–80% of intrauterine ESS, but only in 1 out of 6 cases of extra-uterine ESS [ 15 ] . These findings suggest that the pathogenesis of ESS in utero and ESS originating outside of the uterus (EESS) may be different at the genetic level. Therefore, JAZF1 fusion detection by fluorescence in situ hybridization is of limited value when diagnosing low-grade EESS. In addition, CDKN1A-JAZF1 [ 16 ] , EPC2-PHF1 and EPC1-SUZ12 gene fusion also exist in in utero ESS [ 17 ] . Although molecular testing for the t (7;17) (p15;q21) and other associated gene fusions may be useful for confirming primary EESS, the low prevalence of these genetic aberrations in this subset of patients limits the clinical utility of the analysis [ 15 ] . Further studies that elucidate the relationship between the pattern of fusion genes and the prognosis or therapeutic strategies in EESS is still necessary. Due to its rarity and inertia, EESS is difficult to study. At present, there is, not only no evidence-based medical evidence for treatment, but also a lack of prognostic analysis reports of large-scale cases. Current treatment options refer to guidelines for the treatment of uterine ESS. Tumor cell reduction is preferred for patients whose tumors can be completely removed; however, ovariectomy and combined staging including pelvic and paraaortic lymphadenectomy remain controversial [ 3 , 10 , 11 , 18 ] . Postoperative chemotherapy [ 19 ] , radiotherapy [ 20 ] or hormone therapy may be used. Low-grade EESS is a hormone-dependent low-grade malignant tumor with about 80% ER/PR expression [ 21 ] . For this reason, hormonal growth signals play a critical role in the development of this group of tumors [ 22 ] . Aromatase inhibitors (AIs) are the first-choice adjuvant therapy for patients with low grade uterine ESS. Other available drugs include progestins (megestrol acetate, medroxyprogesterone acetate, etc.) and gonadotropin releasing hormone (GnRH). Progesterone may play a relevant role in the treatment of uterine sarcomas [ 23 ] . Progesterone, when combined with PR, leads to anti-estrogen activity and the reduction of interstitial endometrial proliferation [ 24 ] . Megestrol acetate (MA) and medroxyprogesterone acetate (MPA) are the most frequently used progestins. In ER/PR-positive ESS patients, when treated with progesterone, tumor response was stable in most cases with an overall response rate of 86.9% [ 25 ] . AIs inhibit estrogen biosynthesis by blocking aromatase activity. Aromatase is an enzyme that catalyzes estrogen biosynthesis in androgens, which is determined by the CYP19 gene [ 26 ] . It has been reported that about 80% of ESS expresses aromatase within tumors [ 26 ] . On the other hand, third-generation AIs (Letrozole, Anastrozole and Exemestane) have an acceptable tolerance profile and can be administered orally [ 27 ] . Altal et al. [ 28 ] described complete remission of advanced low-grade ESS with extensive metastasis to the lung, bladder, ureteral orifice and iliac lymph nodes after surgery and hormonal therapy with Letrozole 2.5 mg daily. Ioffe et al. [ 29 ] suggested that AIs, due to their favorable side effect profile compared to progestins, as well as potential survival benefits, should be considered either as first-line or second-line treatments for low-grade ESS. The latest National Comprehensive Cancer Network (NCCN) guidelines recommend AIs as preferred therapeutic regimens for low-grade ESS [ 30 ] . GnRh-a (Leuprolide and Goserelin) inhibits the pituitary ovarian axis in premenopausal women, leading to the suppression of ovarian estrogen to a level comparable to the postmenopausal state [ 24 , 31 ] . Burke et al. [ 32 ] reported a case of ESS treated with GnRh-a, which controlled progression and reduced tumor size. In this case, the patient was considered to have endometriosis before surgery. After the application of GnRH-a, ovarian atrophy was observed during the operation, and the lesion was somewhat reduced, which proved that the drug was effective. After surgery, the patient took oral MPA combined with Letrozole for 48 months, and no recurrence was observed. In addition, most studies on the efficacy of hormone therapy have been retrospective analyses, case reports, or case series studies, so the role of endocrine therapy remains controversial [ 22 ] . Patients with low-grade EESS have a good prognosis and long-term survival, but there is a risk of late recurrence [ 33 ] , as indicated by multiple studies reporting a recurrence rate of about 50% [ 12 , 34 ] . Delayed recurrence of low-grade EESS highlights the need for disease-specific surveillance, including long-term, or possibly lifelong, monitoring of patients after treatment with low-grade EESS. In summary, we report a rare case of a primary EESS arising in the multiple organ invasion of a 46-year-old woman. EESS is a very rare disease without typical symptoms. By reporting our case, we wish to stress the necessity for a high degree of suspicion to diagnose this tumor. A prompt diagnosis and timely intervention are keys to improving patient survival. Further studies are needed because of the limited number of reported EESS cases. Abbreviations EESS extrauterine endometrioid stromal sarcoma GnRh-a Gonadotropin-releasing hormone analogues Declarations Acknowledgements Not applicable. Authors' contributions Yansong Liu designed the report. Jumin Niu and Xiaocui Nie collected and assembled the patient data. Yan Xu wrote the manuscript. All authors read and approved the final manuscript. Funding None Availability of data and materials All data generated or analyzed during this study are included in this published article. Ethics approval and consent to participate Not applicable Consent for publication Written informed consent for publication was obtained from the participant. Competing interests The authors declare that they have no competing interests. Authors' information 1 Department of Obstetrics and Gynecology, Shenyang Women’s and Children’s Hospital, No.87 Danan Street, Shenhe District, Shenyang 110000, China References Momeni-Boroujeni A, Chiang S. Uterine mesenchymal tumours: recent advances. Histopathology. 2020;76:64–75. Ho RS, Chan GC, HA SY, et al. Endometriosis-associated serous borderline tumor and endometrial stromal sarcoma of the ovary: a report of a rare lesion in an infant. Int J Gynecol Pathol. 2012;31:98–102. Son HJ, Kim JH, Kang DW, et al. Primary extrauterine endometrial stromal sarcoma in the sigmoid colon. Ann Coloproctol. 2015;31:68–73. Zaza KJ, Arafah MA, Al-Badawi IA. Vulvar extrauterine endometrial stromal sarcoma: A case report and literature review. Hematol Oncol Stem Cell Ther. 2015;8:125–9. Tang Y, Chen Y, Tian L, et al. Vaginal low-grade endometrial stromal sarcoma: an extremely rare case report and review of the literature. Int J Gynecol Pathol. 2020;39:447–51. 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Complete remission of advanced low-grade endometrial stromal sarcoma after aromatase inhibitor therapy: a case report. J Med Case Rep. 2021;15:262. Ioffe YJ, Li AJ, Walsh CS, et al. Hormone receptor expression in uterine sarcomas: prognostic and therapeutic roles. Gynecol Oncol. 2009;115:466–71. Abu-Rustum NR, Yashar CM, Bradley K, et al. NCCN Guidelines® Insights: Uterine Neoplasms, Version 3.2021. J Natl Compr Canc Netw. 2021;19:888–95. Reich O, Regauer S. Hormonal therapy of endometrial stromal sarcoma. Curr Opin Oncol. 2007;19:347–52. Burke C, Hickey K. Treatment of endometrial stromal sarcoma with a gonadotropin-releasing hormone analogue. Obstet Gynecol. 2004;104(5 Pt 2):1182–4. Liu Z, Ding J, Li X, et al. Endometrial stromal sarcoma arising in vagina. Int J Clin Exp Pathol. 2013;6:2997–3002. Stewart LE, Beck TL, Giannakopoulos NV, et al. Impact of oophorectomy and hormone suppression in low grade endometrial stromal sarcoma: A multicenter review. Gynecol Oncol. 2018;149:297–300. Additional Declarations No competing interests reported. Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-3972555","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":275340254,"identity":"19b7ff39-dc57-46bd-8017-fb4f821df64c","order_by":0,"name":"Yan Xu","email":"","orcid":"","institution":"Shenyang Women’s and Children’s Hospital","correspondingAuthor":false,"prefix":"","firstName":"Yan","middleName":"","lastName":"Xu","suffix":""},{"id":275340255,"identity":"5584d0a2-3443-4ee3-826c-8c3bf97a3fd7","order_by":1,"name":"Jumin Niu","email":"","orcid":"","institution":"Shenyang Women’s and Children’s Hospital","correspondingAuthor":false,"prefix":"","firstName":"Jumin","middleName":"","lastName":"Niu","suffix":""},{"id":275340256,"identity":"d0635948-25c7-45c8-9277-42b1294cfb42","order_by":2,"name":"Yang Zhou","email":"","orcid":"","institution":"Sheng Jing Hospital","correspondingAuthor":false,"prefix":"","firstName":"Yang","middleName":"","lastName":"Zhou","suffix":""},{"id":275340257,"identity":"b9fcd961-e496-40bc-bfe9-44f054d0bb46","order_by":3,"name":"Xiaocui Nie","email":"","orcid":"","institution":"Shenyang Women’s and Children’s Hospital","correspondingAuthor":false,"prefix":"","firstName":"Xiaocui","middleName":"","lastName":"Nie","suffix":""},{"id":275340258,"identity":"24165d8b-4106-48de-b2b9-a9d9c7a30fea","order_by":4,"name":"Yansong Liu","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAy0lEQVRIiWNgGAWjYBACxvmPDz5I/CMhx8/eQKQW5oa0ZIOPDRbGkj0HiNTC3pCjJjmzoSJxw40EIrXwNpxhNubdIWEsOfPxxhsMNTbRBLVINvYefMx7BugX6bRiC4ZjabkNhLQYNvMlG/OwAW2ZnWMmwdhwmLAW+2M8ZtJALYkbbp4hUgtjD4+Z5Mw2oJYbPMRqmcGWbPDhDNBhPUC/JBDjF8YZzAcfJFTUAaPy8MYbH2psCGtBBgYSCaQoh2ghVccoGAWjYBSMDAAAAxBAvfx1DUgAAAAASUVORK5CYII=","orcid":"","institution":"Shenyang Women’s and Children’s Hospital","correspondingAuthor":true,"prefix":"","firstName":"Yansong","middleName":"","lastName":"Liu","suffix":""}],"badges":[],"createdAt":"2024-02-20 10:47:20","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-3972555/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-3972555/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":52029026,"identity":"a53eb889-8de8-41ff-871c-596436ba5073","added_by":"auto","created_at":"2024-03-05 16:16:18","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":344359,"visible":true,"origin":"","legend":"\u003cp\u003eContrast-enhanced CT showed showing the presence of multiple pelvic tumor lesions(A) and wall thickening of the colorectum(B).\u003c/p\u003e","description":"","filename":"fig1.png","url":"https://assets-eu.researchsquare.com/files/rs-3972555/v1/e23a1ff9ad37326f489f8e6b.png"},{"id":52029027,"identity":"e97a9456-6d3f-44c8-8dbc-2867446fe1f3","added_by":"auto","created_at":"2024-03-05 16:16:18","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":2083703,"visible":true,"origin":"","legend":"\u003cp\u003eLaparoscopic exploration of pelvic cavity.\u003c/p\u003e\n\u003cp\u003e(A)Both ovaries, fallopian tubes and colorectum were attached to the posterior wall of the uterus. (B)Part of the rectum and sigmoid colon were obviously thickened and stiff.\u003c/p\u003e","description":"","filename":"fig2.png","url":"https://assets-eu.researchsquare.com/files/rs-3972555/v1/6540101e581e78215937fae7.png"},{"id":52029029,"identity":"25a253eb-b3dc-4841-8f29-f611ee8d862d","added_by":"auto","created_at":"2024-03-05 16:16:19","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":33704871,"visible":true,"origin":"","legend":"\u003cp\u003eGross appearance of the resected specimens of the colorectum and uterus.\u003c/p\u003e\n\u003cp\u003e(A)The size of the uterus was about 6×6 cm, with a smooth endometrium. (B)The wall of the isolated colorectum tube was significantly thickened.(C)The intestinal tube lining was smooth.(D)The length of the excised intestine was about 17 cm.\u003c/p\u003e","description":"","filename":"fig3.png","url":"https://assets-eu.researchsquare.com/files/rs-3972555/v1/ffa23424b679f5aefb970606.png"},{"id":52029030,"identity":"1a9b55e1-b977-4f34-8af6-1a9d3ac9ae7b","added_by":"auto","created_at":"2024-03-05 16:16:19","extension":"png","order_by":4,"title":"Figure 4","display":"","copyAsset":false,"role":"figure","size":46492322,"visible":true,"origin":"","legend":"\u003cp\u003eHistopathological examination of the low-grade EESS.\u003c/p\u003e\n\u003cp\u003e(A)Low-grade EESS involving the colonic wall and protruding into the lumen; characteristic tongues of invasion are seen in the colonic wall(H\u0026amp;E,×100).(B)Vascular infiltration was observed in the lesion(H\u0026amp;E,×100).(C)Low-grade EESS can be seen in association with endometriosis(H\u0026amp;E,×100).Immunohistochemistry confirmed positive ER (D), and PR expression (E)and CD10 (F).(×100).\u003c/p\u003e","description":"","filename":"fig4.png","url":"https://assets-eu.researchsquare.com/files/rs-3972555/v1/9eda623a945e2f79ee19a53a.png"},{"id":52224939,"identity":"39750118-f76e-46be-86e8-d23bf8c1c6d7","added_by":"auto","created_at":"2024-03-08 04:59:13","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":5494350,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-3972555/v1/e22e2b40-28c6-4a6e-b76e-fd13a9fe962d.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Primary extrauterine endometrial stromal sarcoma with multiple organ invasion: A case report","fulltext":[{"header":"Background","content":"\u003cp\u003eLow-grade endometrial stromal sarcoma is a malignant tumor originating from endometrial stromal tissue, accounting for about 0.2% of all uterine malignancies\u003csup\u003e[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]\u003c/sup\u003e. Primary low-grade extrauterine endometrial stromal sarcomas (EESS) are even rarer tumors that arise de novo at extrauterine sites, with no uterine involvement. We report a case of primary pelvic and colorectal ESS and review relevant literature to summarize its etiology, pathogenesis, and treatment.\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eA 47-year-old woman, who complained of diarrhea with yellow mucus-like or elongated stools for more than 2 months, came to our hospital. There was no relevant family history and no history of other significant diseases. Laboratory analysis was not significant except for a slight increase in CA-125 of 65.4 U/mL (normal range, 2.5\u0026ndash;30 U/mL).\u003c/p\u003e \u003cp\u003eColonoscopy biopsy at an external hospital showed inflammatory polyps, while peritoneal puncture biopsy in the omentum showed endometriosis, but low-grade endometrioid stromal sarcoma was not completely excluded. Subsequent contrast-enhanced CT revealed thickened intestinal walls of the sigmoid colon and rectum(Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003eA-B), as well as multiple irregular soft tissues in the abdomen and pelvis, leading to suspicion of colorectal cancer with multiple metastases. Based on these findings, colorectal cancer with metastases could not be excluded. A second colonoscopy and biopsy were performed according to the CT findings and pathological results indicated that the sigmoid lesions were endometriosis. According to pathological results, the patient was diagnosed with intestinal endometriosis and was given a subcutaneous injection of Gonadotropin-releasing hormone analogues (GnRh-a). After medication, she had 2.3 bowel movements per day, with normal characteristics.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eLaparoscopic exploration\u003c/strong\u003e \u003cp\u003eDiffuse miliary nodules were found on the surface of the pelvic peritoneum, with yellow-white and brittle characteristics. Inflammatory follicular-like changes were seen on the surface of the anterior wall of the uterus. Both sides of the ovaries, fallopian tubes and colorectum were attached to the posterior wall of the uterus (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003eA). The adhesion of the posterior wall of the uterus to the double adnexa and surface of the rectum was yellowish-white, poor brittle, and relatively loose, resembling necrosis. Both ovaries had atrophic changes, and miliary nodules were observed on the surface that were about 2 cm in diameter. Part of the sigmoid colon and rectum were obviously thickened and stiff with a hard texture, and the surface was covered with multiple yellowish-white brittle necrotic tissues(Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003eB). A contracture of the greater omentum appeared as a nodule. Cytoreductive surgery was performed that included removal of the uterus, bilateral fallopian tubes, bilateral ovaries, part of the rectum colon, omentum majus, and metastatic lesions.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e(A)Both ovaries, fallopian tubes and colorectum were attached to the posterior wall of the uterus. (B)Part of the rectum and sigmoid colon were obviously thickened and stiff .\u003c/p\u003e \u003cp\u003e \u003cstrong\u003ePathological observations of specimens\u003c/strong\u003e \u003cp\u003eThe size of the uterus was about 6\u0026times;6 cm, with a smooth endometrium(Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003eA). The wall of the isolated colorectum tube was significantly thickened and yellowish white(Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003eB). The intestinal tube lining was smooth, with a slightly convex local part(Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003eC). The length of the excised intestine was about 17 cm(Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003eD).\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e(A)The size of the uterus was about 6\u0026times;6 cm, with a smooth endometrium. (B)The wall of the isolated colorectum tube was significantly thickened.(C)The intestinal tube lining was smooth.(D)The length of the excised intestine was about 17 cm.\u003c/p\u003e \u003cp\u003eHistologically, the tumor margin was extensive and invasive, and the tumor cells were irregularly serrated and linguoid. Many tumor nodules consisted of uniform, loose bundles of elliptical to fusiform tumor cells with slightly darker nuclei and sparse cytoplasm(Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003eA). In this case, significant vascular infiltration was found (Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003eB). Endometriosis can be seen in some diseased tissues (Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003eC). Immunohistochemistry revealed that the tumor cells were diffusely and strongly positive for estrogen receptor (ER)(Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003eD), progesterone receptor (PR)(Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003eE), CD10(Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003eF), WT1 and vimentin. The tumor cells were uniformly negative for HMB-45, Melan-A, Ber-ER4, EMA, pan-CK, D2-40, PaX-8, CD117, DOG-1, Calretinin, inhibin-a and CycinD1. The morphologic and immunohistochemical features, in addition to the absence of endometrial stromal lesions elsewhere, confirmed the diagnosis of primary low-grade EESS in the left ovary, left fallopian tube, omentum, and pelvic abdominal wall.\u003c/p\u003e \u003cp\u003eLong-term oral administration of Letrozole (2.5mg/day) and (Farlutal, 500mg/day) was prescribed. During the follow-up of the patient, the pelvic peritoneal examination results were negative, and the patient remained disease-free at 48-months, with no signs or symptoms of recurrent or advanced disease. Signed written consent was obtained from the patient for this case report.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e(A)Low-grade EESS involving the colonic wall and protruding into the lumen; characteristic tongues of invasion are seen in the colonic wall(H\u0026amp;E,\u0026times;100).(B)Vascular infiltration was observed in the lesion(H\u0026amp;E,\u0026times;100).(C)Low-grade EESS can be seen in association with endometriosis(H\u0026amp;E,\u0026times;100).Immunohistochemistry confirmed positive ER (D), and PR expression (E)and CD10 (F).(\u0026times;100).\u003c/p\u003e"},{"header":"Discussion and Conclusions","content":"\u003cp\u003eEESS is a rare mesenchymal neoplasm of the uterus that is predominantly composed of endometrial stromal cells. Primary extrauterine EESS originates from extrauterine organs without intrauterine lesions. The site of primary extrauterine EESS most commonly involves the ovaries\u003csup\u003e[\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]\u003c/sup\u003e, other pelvic organs, sigmoid rectum\u003csup\u003e[\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]\u003c/sup\u003e, small intestine and vagina\u003csup\u003e[\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e, \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]\u003c/sup\u003e, with a few cases occurring in the lungs\u003csup\u003e[\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]\u003c/sup\u003e. In this case, the ovary, omentum, and colorectum were involved, making it a more serious and complicated condition of EESS.\u003c/p\u003e \u003cp\u003eThe clinical signs and symptoms of EESS depend on the affected sites\u003csup\u003e[\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]\u003c/sup\u003e. When they occur in the external position of the uterus, non-gynecological signs and symptoms occur. Commonly reported affected sites are usually those where endometriosis occurs, including the abdominal pelvic area, especially the peritoneal surface, intestinal wall, ovaries, pelvis, vagina, bladder, retroperitoneal, lymph nodes, and fallopian tubes. Therefore, common symptoms often include abdominal/pelvic lumps and pain, abnormal vaginal bleeding, gastrointestinal symptoms (such as vomiting, constipation, bleeding, and small bowel obstruction), and urinary tract symptoms (such as hematuria, urgency to urinate, frequent urination, and incontinence)\u003csup\u003e[\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]\u003c/sup\u003e. The patient's first symptom in this case report was diarrhea. The presence of different histological features and the lack of unique immunohistochemical features can create diagnostic dilemmas and lead to inaccurate diagnoses. In this case, the patient was examined several times and was considered to have intestinal carcinoma or endometriosis.\u003c/p\u003e \u003cp\u003eThe pathogenesis of primary EESS is still unclear, and there are several hypotheses to explain its pathogenesis. One speculation attributes EESS pathogenesis to an endometriosis malignancy, which is supported by many case reports where endometriosis lesions are found in tissues adjacent to tumors in EESS\u003csup\u003e[\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e, \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e]\u003c/sup\u003e. Son et al. explained that ESS has a high incidence in the rectum and sigmoid colon\u003csup\u003e[\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]\u003c/sup\u003e. In our case, we found histological evidence of endometriosis in excised colorectal specimens, which may be associated with endometriosis malignancy. Another hypothesis is that EESS occurring in the fallopian tubes, ovaries, and peritoneum of the pelvis may develop from malignant degeneration of Muller cells, which are widely distributed in the pelvic cavity and peritoneum\u003csup\u003e[\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e, \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]\u003c/sup\u003e. However, this hypothesis cannot be applied to EESS that originates from coelomic epithelium, such as the vagina, lung, liver, etc. Therefore, further accumulation of EESS cases is still needed for further research. Molecular-based hypothesis studies have shown that endometrial stromal sarcomas (ESS) can be genetically heterogeneous. The most common alteration carried by low-grade ESS is the t (7;17) (p15;q21) translocation, which produces the JAZF1\u0026ndash;SUZ12 gene fusion (also known as JJAZ1)\u003csup\u003e[\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e]\u003c/sup\u003e. AmadorOrtiz et al. found that JAZF1 fusion occurrs in 33\u0026ndash;80% of intrauterine ESS, but only in 1 out of 6 cases of extra-uterine ESS\u003csup\u003e[\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]\u003c/sup\u003e. These findings suggest that the pathogenesis of ESS in utero and ESS originating outside of the uterus (EESS) may be different at the genetic level. Therefore, JAZF1 fusion detection by fluorescence in situ hybridization is of limited value when diagnosing low-grade EESS. In addition, CDKN1A-JAZF1\u003csup\u003e[\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e]\u003c/sup\u003e, EPC2-PHF1 and EPC1-SUZ12 gene fusion also exist in in utero ESS\u003csup\u003e[\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e]\u003c/sup\u003e. Although molecular testing for the t (7;17) (p15;q21) and other associated gene fusions may be useful for confirming primary EESS, the low prevalence of these genetic aberrations in this subset of patients limits the clinical utility of the analysis\u003csup\u003e[\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]\u003c/sup\u003e. Further studies that elucidate the relationship between the pattern of fusion genes and the prognosis or therapeutic strategies in EESS is still necessary.\u003c/p\u003e \u003cp\u003eDue to its rarity and inertia, EESS is difficult to study. At present, there is, not only no evidence-based medical evidence for treatment, but also a lack of prognostic analysis reports of large-scale cases. Current treatment options refer to guidelines for the treatment of uterine ESS. Tumor cell reduction is preferred for patients whose tumors can be completely removed; however, ovariectomy and combined staging including pelvic and paraaortic lymphadenectomy remain controversial\u003csup\u003e[\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e, \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]\u003c/sup\u003e. Postoperative chemotherapy\u003csup\u003e[\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e]\u003c/sup\u003e, radiotherapy\u003csup\u003e[\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e]\u003c/sup\u003e or hormone therapy may be used. Low-grade EESS is a hormone-dependent low-grade malignant tumor with about 80% ER/PR expression\u003csup\u003e[\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e]\u003c/sup\u003e. For this reason, hormonal growth signals play a critical role in the development of this group of tumors\u003csup\u003e[\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e]\u003c/sup\u003e. Aromatase inhibitors (AIs) are the first-choice adjuvant therapy for patients with low grade uterine ESS. Other available drugs include progestins (megestrol acetate, medroxyprogesterone acetate, etc.) and gonadotropin releasing hormone (GnRH). Progesterone may play a relevant role in the treatment of uterine sarcomas\u003csup\u003e[\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e]\u003c/sup\u003e. Progesterone, when combined with PR, leads to anti-estrogen activity and the reduction of interstitial endometrial proliferation\u003csup\u003e[\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e]\u003c/sup\u003e. Megestrol acetate (MA) and medroxyprogesterone acetate (MPA) are the most frequently used progestins. In ER/PR-positive ESS patients, when treated with progesterone, tumor response was stable in most cases with an overall response rate of 86.9%\u003csup\u003e[\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e]\u003c/sup\u003e. AIs inhibit estrogen biosynthesis by blocking aromatase activity. Aromatase is an enzyme that catalyzes estrogen biosynthesis in androgens, which is determined by the CYP19 gene\u003csup\u003e[\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e]\u003c/sup\u003e. It has been reported that about 80% of ESS expresses aromatase within tumors\u003csup\u003e[\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e]\u003c/sup\u003e. On the other hand, third-generation AIs (Letrozole, Anastrozole and Exemestane) have an acceptable tolerance profile and can be administered orally\u003csup\u003e[\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e]\u003c/sup\u003e. Altal et al.\u003csup\u003e[\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e]\u003c/sup\u003e described complete remission of advanced low-grade ESS with extensive metastasis to the lung, bladder, ureteral orifice and iliac lymph nodes after surgery and hormonal therapy with Letrozole 2.5 mg daily. Ioffe et al.\u003csup\u003e[\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e]\u003c/sup\u003e suggested that AIs, due to their favorable side effect profile compared to progestins, as well as potential survival benefits, should be considered either as first-line or second-line treatments for low-grade ESS. The latest National Comprehensive Cancer Network (NCCN) guidelines recommend AIs as preferred therapeutic regimens for low-grade ESS\u003csup\u003e[\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e]\u003c/sup\u003e. GnRh-a (Leuprolide and Goserelin) inhibits the pituitary ovarian axis in premenopausal women, leading to the suppression of ovarian estrogen to a level comparable to the postmenopausal state\u003csup\u003e[\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e, \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e]\u003c/sup\u003e. Burke et al.\u003csup\u003e[\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e]\u003c/sup\u003e reported a case of ESS treated with GnRh-a, which controlled progression and reduced tumor size. In this case, the patient was considered to have endometriosis before surgery. After the application of GnRH-a, ovarian atrophy was observed during the operation, and the lesion was somewhat reduced, which proved that the drug was effective. After surgery, the patient took oral MPA combined with Letrozole for 48 months, and no recurrence was observed. In addition, most studies on the efficacy of hormone therapy have been retrospective analyses, case reports, or case series studies, so the role of endocrine therapy remains controversial\u003csup\u003e[\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e]\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003ePatients with low-grade EESS have a good prognosis and long-term survival, but there is a risk of late recurrence\u003csup\u003e[\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e]\u003c/sup\u003e, as indicated by multiple studies reporting a recurrence rate of about 50%\u003csup\u003e[\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e, \u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e]\u003c/sup\u003e. Delayed recurrence of low-grade EESS highlights the need for disease-specific surveillance, including long-term, or possibly lifelong, monitoring of patients after treatment with low-grade EESS.\u003c/p\u003e \u003cp\u003eIn summary, we report a rare case of a primary EESS arising in the multiple organ invasion of a 46-year-old woman. EESS is a very rare disease without typical symptoms. By reporting our case, we wish to stress the necessity for a high degree of suspicion to diagnose this tumor. A prompt diagnosis and timely intervention are keys to improving patient survival. Further studies are needed because of the limited number of reported EESS cases.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cdiv class=\"DefinitionList\"\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eEESS\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eextrauterine endometrioid stromal sarcoma\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eGnRh-a\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eGonadotropin-releasing hormone analogues\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003c/div\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors' contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eYansong Liu designed the report. Jumin Niu and Xiaocui Nie collected and assembled the\u003c/p\u003e\n\u003cp\u003epatient data. Yan Xu wrote the manuscript. All authors read and approved\u003c/p\u003e\n\u003cp\u003ethe final manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNone\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll data generated or analyzed during this study are included in this\u003c/p\u003e\n\u003cp\u003epublished article.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWritten informed consent for publication was obtained from the participant.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests \u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors' information\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003csup\u003e1\u003c/sup\u003eDepartment of Obstetrics and Gynecology, Shenyang Women\u0026rsquo;s and Children\u0026rsquo;s Hospital, No.87 Danan Street, Shenhe District, Shenyang 110000, China\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eMomeni-Boroujeni A, Chiang S. Uterine mesenchymal tumours: recent advances. Histopathology. 2020;76:64\u0026ndash;75.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHo RS, Chan GC, HA SY, et al. Endometriosis-associated serous borderline tumor and endometrial stromal sarcoma of the ovary: a report of a rare lesion in an infant. Int J Gynecol Pathol. 2012;31:98\u0026ndash;102.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eSon HJ, Kim JH, Kang DW, et al. Primary extrauterine endometrial stromal sarcoma in the sigmoid colon. Ann Coloproctol. 2015;31:68\u0026ndash;73.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eZaza KJ, Arafah MA, Al-Badawi IA. Vulvar extrauterine endometrial stromal sarcoma: A case report and literature review. Hematol Oncol Stem Cell Ther. 2015;8:125\u0026ndash;9.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eTang Y, Chen Y, Tian L, et al. 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Taiwan J Obstet Gynecol. 2022;61:1082\u0026ndash;5.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAkaev I, Yeoh CC, Rahimi S. Update on endometrial stromal tumours of the uterus. Diagnostics (Basel). 2021;11(3).\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRoşca E, Venter A, Muţiu G, et al. Endometrial stromal sarcoma developed on outer endometriosis foci. Rom J Morphol Embryol. 2011;52:489\u0026ndash;92.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eBosincu L, Massarelli G, Cossu Rocca P, et al. Rectal endometrial stromal sarcoma arising in endometriosis: report of a case. Dis Colon Rectum. 2001;44:890\u0026ndash;2.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eYantiss RK, Clement PB, Young RH. Neoplastic and pre-neoplastic changes in gastrointestinal endometriosis: a study of 17 cases. Am J Surg Pathol. 2000;24:513\u0026ndash;24.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eGorostiaga I, Perez-Rodriguez A, G\u0026oacute;mez-Mateo MC, et al. Low-grade extrauterine endometrial stromal sarcoma of the peritoneum: A case report and literature review. Rev Esp Patol. 2021;54:201\u0026ndash;5.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eFerrandina G, Aristei C, Biondetti PR et al. Italian consensus conference on management of uterine sarcomas on behalf of S.I.G.O. (Societa' italiana di Ginecologia E Ostetricia). Eur J Cancer. 2020; 139:149\u0026thinsp;\u0026ndash;\u0026thinsp;68.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAmant F, Coosemans A, Debiec-Rychter M, et al. Clinical management of uterine sarcomas. Lancet Oncol. 2009;10:1188\u0026ndash;98.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eThanopoulou E, Judson I. Hormonal therapy in gynecological sarcomas. Expert Rev Anticancer Ther. 2012;12:885\u0026ndash;94.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003ePannier D, Cordoba A, Ryckewaert T, et al. Hormonal therapies in uterine sarcomas, aggressive angiomyxoma, and desmoid-type fibromatosis. Crit Rev Oncol Hematol. 2019;143:62\u0026ndash;6.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eGao C, Wang Y, Tian W, et al. The therapeutic significance of aromatase inhibitors in endometrial carcinoma. Gynecol Oncol. 2014;134:190\u0026ndash;5.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMaccaroni E, Lunerti V, AGOSTINELli V et al. New Insights into Hormonal Therapies in Uterine Sarcomas [J]. Cancers (Basel). 2022;14(4).\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAltal OF, Al Sharie AH, Halalsheh OM, et al. Complete remission of advanced low-grade endometrial stromal sarcoma after aromatase inhibitor therapy: a case report. J Med Case Rep. 2021;15:262.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eIoffe YJ, Li AJ, Walsh CS, et al. Hormone receptor expression in uterine sarcomas: prognostic and therapeutic roles. Gynecol Oncol. 2009;115:466\u0026ndash;71.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAbu-Rustum NR, Yashar CM, Bradley K, et al. NCCN Guidelines\u0026reg; Insights: Uterine Neoplasms, Version 3.2021. J Natl Compr Canc Netw. 2021;19:888\u0026ndash;95.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eReich O, Regauer S. Hormonal therapy of endometrial stromal sarcoma. Curr Opin Oncol. 2007;19:347\u0026ndash;52.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eBurke C, Hickey K. Treatment of endometrial stromal sarcoma with a gonadotropin-releasing hormone analogue. Obstet Gynecol. 2004;104(5 Pt 2):1182\u0026ndash;4.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLiu Z, Ding J, Li X, et al. Endometrial stromal sarcoma arising in vagina. Int J Clin Exp Pathol. 2013;6:2997\u0026ndash;3002.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eStewart LE, Beck TL, Giannakopoulos NV, et al. Impact of oophorectomy and hormone suppression in low grade endometrial stromal sarcoma: A multicenter review. Gynecol Oncol. 2018;149:297\u0026ndash;300.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"endometrial stromal sarcoma, extrauterine, rectum, colon","lastPublishedDoi":"10.21203/rs.3.rs-3972555/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-3972555/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eBackground: Primary extrauterine endometrioid stromal sarcoma (EESS) are rarer tumors that occur outside the uterus and do not involve the uterus.\u003c/p\u003e\n\u003cp\u003eCase presentation: We report a case of \u0026nbsp;low-grade extrauterine endometrial stromal sarcoma of the pelvic and colorectum. A 46-year-old woman, who complained of diarrhea with yellow mucus-like or elongated stools for more than 2 months, came to our hospital with colonoscopy and CT results that raised suspicion of colorectal cancer but also pathological examination results indicative of endometriosis. As the intraoperative pathology of the omentum and ovary revealed endometrial stromal sarcoma, and part of the sigmoid and rectum were obviously thickened and stiff, we performed cytoreductive surgery including removal of the uterus, bilateral fallopian tubes, bilateral ovaries, part of the colorectum, omentum majus, and metastatic lesions. Postoperative pathology revealed that the pelvic mass and segments from the colorectum were consistent with low-grade endometrial stromal sarcoma. Long-term oral administration of Letrozole, 2.5mg/day and Farlutal, 500mg/day was prescribed. During follow-up of the patient, the pelvic peritoneal examination results were negative, and has remained disease-free at 48-months post-surgery.\u003c/p\u003e\n\u003cp\u003eConclusion: We report a rare case of simultaneous endometrial stromal sarcoma of the pelvic and colorectum.\u003c/p\u003e","manuscriptTitle":"Primary extrauterine endometrial stromal sarcoma with multiple organ invasion: A case report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-03-05 16:16:13","doi":"10.21203/rs.3.rs-3972555/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"958d4d93-76b5-4ef1-aea1-66ad88f7b343","owner":[],"postedDate":"March 5th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2024-03-08T04:51:06+00:00","versionOfRecord":[],"versionCreatedAt":"2024-03-05 16:16:13","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-3972555","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-3972555","identity":"rs-3972555","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}