A rare istopathological diagnosis: Endometrioid adenocarcinoma localized in the rectum. A case report.

A rare istopathological diagnosis: Endometrioid adenocarcinoma localized in the rectum. 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 Research Article A rare istopathological diagnosis: Endometrioid adenocarcinoma localized in the rectum. A case report. Marco Pace, Giovanna Carillo, Marco Di Giovan Paolo, Francesco Stipa This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-3175783/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 24 Oct, 2023 Read the published version in SN Comprehensive Clinical Medicine → Version 1 posted 5 You are reading this latest preprint version Abstract Introduction : Endometriosis-associated intestinal tumours represent the malignant trasformation of gastrointestinal endometriosis. Clinical features are similar to a colon tumor with abdominal or pelvic pain, dyschezia or bloody stools. Intestinal occlusion or perforation have also been described as a first presentation. The diagnosis is often postoperative and it is based on specific immunohistochemical patterns (CK7+/CK20-). Case presentation : In this article we present a rare case of a woman with a malignant trasformation of an endometriotic lesion of the sigmoid colon, who underwent emergency surgery for intestinal occlusion. She underwent an exploratory laparotomy and Hartmann resection. The immunophenotypic analysis of the specimens revealed the following pattern: CK20-, CK7+, compatible with the diagnosis of endometrioid adenocarcinoma. Conclusions : Endometrioid carcinoma is a rare tumor, difficult to diagnose preoperatively because clinically it presents with symptoms similar to those of patients with sigmoid adenocarcinoma. A high index of suspicion in conjunction with careful histological and immunohistochemical examination (CK7, CK20, CDX2, CD10, ER, and PR) is important for establishing a correct diagnosis. endometrioid carcinoma emergency surgery ectopic endometriosis case report Figures Figure 1 Figure 2 Figure 3 INTRODUCTION Endometriosis represents a common gynecologic condition. It is defined as the presence of endometrial glands in extrauterine sites [ 1 ], like ovary, fallopian tubes, cervix, pouch of Douglas, small and large intestines, recto vaginal septum, and the appendix [ 2 ]. 5–15% of women with endometriosis could suffer intestinal endometriosis. Bowel endometriosis is located especially in the sigmoid colon and the rectum (90%) [ 3 ] and it can rarely turn into intestinal tumors [ 4 – 6 ]. In literature we found no more than 50 cases [ 7 ]. Hyperestrogenism is a possible risk factor for the development of cancer from endometriosis [ 8 ]. Endometriosis-associated intestinal tumors (EAITs) may present with non-specific symptoms or manifest with bowel obstruction, intussusception, or perforation [ 4 , 5 ]. The differential diagnosis includes any neoformation that invades the intestinal wall as well as colorectal carcinoma, especially in the presence of mucosal disruption. The definitive diagnosis is established by immunohistochemical analysis, which distinguish between endometrial adenocarcinoma (CK7+/CK20-) and intestinal adenocarcinoma (CK20+/CK7-) [ 9 ]. Five-year overall survival reaches 82–100% [ 10 ]. In this article we present a rare case of a woman with a malignant trasformation of an endometriotic lesion of the sigmoid colon, who underwent emergency surgery for intestinal occlusion. CASE REPORT A 54 years old nulliparous postmenopausal woman was admitted to our emergency room with acute and persistent abdominal pain, vomit and intestinal blockage lasting two days. The patient had a past medical history of asymptomatic endometriosis ovarian cyst and fibromatous uterus discovered only 2 months before the presented acute event. She had no past familiar history of malignancies. Clinical examination revealed diffuse abdominal tenderness meanly situated in the left iliac fossa. An urgent contrast enhanced-CT (Fig. 1 ) showed intestinal obstruction with concentric thickening of the sigma and severe proximal distention of the colon with air-fluid levels. A colonscopy was performed and revealed an edematous sigmoidal mucosa, situated above 35–40 cm from the anal margin without macroscopic lesions (Fig. 2 ). Endoscopic biopsies of this tract were negative for neoplastic cells. The patient was treated without surgery initially; after two days the clinical conditions worsened with an increase in abdominal pain, so exploratory laparotomy was performed. It pointed out severe intestinal distention above the stenosis of the sigma, that appear edematous and ischemic. No further lesions were observed in the uterine wall or in the left ovary. Left emicolectomy and colostomy were performed and the surgical resected specimens were sent to histological examination. Pathological specimens consisted of a stenosis lesion occupying about 2/3 of the lumen, extended for 3.5 cm. The histological specimens revealed the presence of a lesion, which microscopically involved the muscolaris propria and the pericolic adipose tissue. In addition, in the surrounding pericolic adipose tissue foci of endometriosis were observed. The immunophenotypic analysis revealed the following pattern: CK20-, CDX2-, PAX8+, CK7+, ER +/-, Vim+ (Fig. 3 ). These findings were compatible with endometrioid adenocarcinoma. Two of the 19 examined pericolic lymph nodes were metastatic. According to the best clinical practice for oncological patients, the case was discussed to Multi-Disciplinary Team (MDT). The patient received adjuvant chemotherapy consisting of Paclitaxel 175 mg/mq + AUC5 carboplatin. A CT-TB was performed after 6 months and it was negative for neoplastic lesions, therefore the patient underwent Hartmann Reversal and bilateral hysteroannessectomy, in order to remove any possible residual endometriosis focus. The final histological diagnosis after surgery was clear cells ovarian cancer, without uterine repetitions with the immunohistochemical pattern: PAX ì8N, CK7+, CK20-, CDX2-. According to the MDT, the patient did not require further cycles of chemotherapy and she started the follow up period. DISCUSSION Any extragonadal site of endometriosis can turn into malignancies. EAITs are most commonly found among women aged 30–60 years, earlier than most colorectal cancers [ 7 ]. Hyperestrogenism is considered a risk factor for the development of cancer from endometriosis [ 8 ]. The pelvic peritoneum, rectovaginal septum, vagina and colorectal serosa are the most common site. Among the EAITs, the rectosigmoid colon is the most common site, particularly in the antimesocolic border of the rectosigmoid colon [ 7 ]. The initial symptoms or signs are abdominal and/or pelvic pain, pelvic mass and vaginal bleeding [ 11 ]. It can also begin acutely with small or large bowel obstruction due to a mass or acute abdomen due to intussusception or perforation, as occurred in our case [ 7 ]. Endometrioid adenocarcinoma can simulate a colorectal carcinoma, as in the case of our patient. Analyzing the preoperative TC images (Fig. 1 ), it is very difficult distinguishing endometrioid carcinoma from adenocarcinoma. The diagnosis is based on histological and immunohistochemical analysis. In fact, primary colonic adenocarcinomas involved the mucosal layer and may be associated with precancerous lesions, like adenomatous changes or a neoplastic polyp. On the contrary, endometrioid adenocarcinomas usually show initial involvement of the outer layers of the colon; the mucosa is, therefore, frequently normal or shows only minimal changes endoscopically [ 12 ]. In our case, the mucosa of the sigmoid was edematous, without macroscopic lesions. Microscopically, squamous differentiation within a glandular neoplasm of the colon is a characteristic strongly suggesting the endometriotic origin of a tumor. Immunohistochemical staining for CK7 and CK20 is also useful in the differential diagnosis of some carcinomas of epithelial origin. Among primary colonic adenocarcinomas, 75–95% have a CK7- negative, CK20-positive phenotype, whereas 80–100% of endometrioid adenocarcinomas have a CK7-positive, CK20- negative phenotype [ 9 ]. Occasional cases of endometrioid adenocarcinoma of the ovary could be positive to CD 2. [ 13 ]. Regarding the treatment, there are no precise guidelines, and it is highly individualized. Patients who don’t manifest metastases, can undergo surgery with a complete resection of macroscopic disease. This was also the treatment selected in the case of our patient, since no dissemination of the disease was revealed during laparotomy. The therapeutic value of chemoradiation for metastatic EAIT is of unclear value. The situation is similar in the adjuvant setting after complete resection of disease because of only sporadic reports [ 14 ]. The prognosis of EAITs is associated with the stage of endometriosis. A 100% 5-year survival rate has been noted for malignant transformation in extragonadal endometriosis, confined to the site of origin. Disseminated intraperitoneal disease has a poor prognosis; the 5-year survival rate is only 12.5% [ 15 ]⁠. CONCLUSIONS In this article, we report a case of EAIT with clinical features simulating a primary colonic carcinoma, including occlusion and bowel perforation. These tumors can be diagnostically challenging because they can resemble common primary neoplasms of the gastrointestinal tract both clinically and pathologically. A high index of suspicion in conjunction with careful histological and immunohistochemical examination (CK7, CK20, CDX2, CD10, ER, and PR) is important for establishing a correct diagnosis. Declarations Funding The authors declare that they have no commercial interest in the subject of the study and they did not receive any financial support. Conflict of interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Ethics approval Procedures performed in the studies involving human participants were carried out in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Consent to partecipate Not applicable Consent for publication Written informed consent was obtained from the individual(s) for the publication of any potentially identifiable images or data included in this article. Availability of data and material The original contributions presented in the study are included in the supplementary material, further inquiries can be directed to the corresponding author. Code availability Not applicable Author’s contributions All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Giovanna Carillo, Marco Di Giovan Paolo and Francesco Stipa. The first draft of the manuscript was written by Marco Pace and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. References Sanchez Cifuentes A, Candel Arenas MF, Albarracín Marín-Blázquez A. Intestinal endometriosis. Our experience. Rev Esp Enferm Dig. 2016;108:524–5. 10.17235/reed.2016.4292/2016 . Verma R, Osborn S, Horgan K. Endometrioid Adenocarcinoma of Caecum Causing Intussusception. Case Rep Surg. 2013;2013:1–3. http://www.hindawi.com/journals/cris/2013/714126/ . Rodriguez-Lopez M, Bailon-Cuadrado M, Tejero-Pintor F, Choolani E, Fernandez-Perez G, Tapia-Herrero A. Ileocecal intussusception extending to left colon due to endometriosis. Ann R Coll Surg Engl. 2018;100(3):e62–3. Hoang CD, Boettcher AK, Jessurun J, Pambuccian SE, Bullard KM. An Unusual Rectosigmoid Mass: Endometrioid Adenocarcinoma Arising in Colonic Endometriosis: Case Report and Literature Review. Am Surg. 2005;71(8):694–7. Li N, Zhou W, Zhao L, Zhou J. Endometriosis-associated recto-sigmoid cancer: a case report. BMC Cancer. 2018;18(1):905. García-Marín JA, Pellicer-Franco EM, Soria-Aledo V, Mengual-Ballester M, Valero-Navarro G, Aguayo-Albasini JL. Malignant degeneration of rectal endometriosis. Rev Esp Enfermedades Dig. 2015;107(12):761–4. Palla V-V, Karaolanis G, Bliona T, Katafigiotis I, Anastasiou I, Hassiakos D. Endometrioid adenocarcinoma arising from colon endometriosis. SAGE Open Med Case Reports. 2017;5:2050313X1774520. Zanetta GM, Webb MJ, Li H, Keeney GL, Hyperestrogenism. A Relevant Risk Factor for the Development of Cancer from Endometriosis. Gynecol Oncol. 2000;79(1):18–22. https://linkinghub.elsevier.com/retrieve/pii/S0090825800959055 . Chu P, Wu E, Weiss LM. Cytokeratin 7 and Cytokeratin 20 Expression in Epithelial Neoplasms: A Survey of 435 Cases. Mod Pathol. 2000;13(9):962–72. Benoit L, Arnould L, Cheynel N, Diane B, Causeret S, Machado A, et al. Malignant extraovarian endometriosis: A review. Eur J Surg Oncol. 2006;32(1):6–11. Slavin RE, Krum R, Dinh T, Van. Endometriosis-associated intestinal tumors:A clinical and pathological study of 6 cases with a review of the literature. Hum Pathol. 2000;31(4):456–63. https://linkinghub.elsevier.com/retrieve/pii/S0046817705800310 . Chen KTK. Endometrioid Adenocarcinoma Arising from Colonic Endometriosis Mimicking Primary Colonic Carcinoma. Int J Gynecol Pathol. 2002;21(3):285–8. http://journals.lww.com/00004347-200207000-00014 . Kaimaktchiev V, Terracciano L, Tornillo L, Spichtin H, Stoios D, Bundi M, et al. The homeobox intestinal differentiation factor CDX2 is selectively expressed in gastrointestinal adenocarcinomas. Mod Pathol. 2004;17(11):1392–9. https://linkinghub.elsevier.com/retrieve/pii/S0893395222042491 . Yantiss RK, Clement PB, Young RH. Neoplastic and Pre-Neoplastic Changes in Gastrointestinal Endometriosis. Am J Surg Pathol. 2000;24(4):513–24. http://journals.lww.com/00000478-200004000-00005 . Heaps JM, Nieberg RK, Berek JS. Malignant neoplasms arising in endometriosis. Obstet Gynecol. 1990;75(6):1023–8. http://www.ncbi.nlm.nih.gov/pubmed/2188180 . Cite Share Download PDF Status: Published Journal Publication published 24 Oct, 2023 Read the published version in SN Comprehensive Clinical Medicine → Version 1 posted Reviewers agreed at journal 17 Aug, 2023 Reviewers invited by journal 25 Jul, 2023 Editor assigned by journal 24 Jul, 2023 First submitted to journal 21 Jul, 2023 Editorial decision: Major revisions 20 Jul, 2023 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-3175783","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":221348442,"identity":"ef2c503e-9140-48cb-9acd-15fa7ec33b88","order_by":0,"name":"Marco Pace","email":"","orcid":"","institution":"University of Rome La Sapienza: Universita degli Studi di Roma La Sapienza","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Marco","middleName":"","lastName":"Pace","suffix":""},{"id":221348443,"identity":"f77d340b-80ee-4cbb-bcbc-a5e373dee146","order_by":1,"name":"Giovanna Carillo","email":"data:image/png;base64,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","orcid":"https://orcid.org/0009-0002-5731-0379","institution":"Sapienza University of Rome: Universita degli Studi di Roma La Sapienza","correspondingAuthor":true,"submittingAuthor":false,"prefix":"","firstName":"Giovanna","middleName":"","lastName":"Carillo","suffix":""},{"id":221348444,"identity":"55852ad6-468b-4f2e-b2c6-10995d259c75","order_by":2,"name":"Marco Di Giovan Paolo","email":"","orcid":"","institution":"Istituto Figlie di San Camillo Ospedale Vannini: Ospedale Generale di Zona Madre Giuseppina Vannini","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Marco","middleName":"Di Giovan","lastName":"Paolo","suffix":""},{"id":221348445,"identity":"5ca0f7fe-71bc-48d9-9033-e0ac67450354","order_by":3,"name":"Francesco Stipa","email":"","orcid":"","institution":"Istituto Figlie di San Camillo Ospedale Vannini: Ospedale Generale di Zona Madre Giuseppina Vannini","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Francesco","middleName":"","lastName":"Stipa","suffix":""}],"badges":[],"createdAt":"2023-07-16 19:39:05","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-3175783/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-3175783/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1007/s42399-023-01589-8","type":"published","date":"2023-10-24T15:01:25+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":40725229,"identity":"73761b46-086d-4867-abc3-48d903cdcfd3","added_by":"auto","created_at":"2023-07-28 14:28:21","extension":"jpeg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":37705,"visible":true,"origin":"","legend":"\u003cp\u003eContrast enhanced-CT showed intestinal obstruction with concentric thickening of the sigma and severe proximal distention of the colon with air-fluid levels\u003c/p\u003e","description":"","filename":"Figure1.jpeg","url":"https://assets-eu.researchsquare.com/files/rs-3175783/v1/7d27759fdfe742e4cb351d4d.jpeg"},{"id":40725227,"identity":"2be7d978-8b12-44a6-bb6d-a0d0dd8872ae","added_by":"auto","created_at":"2023-07-28 14:28:21","extension":"jpeg","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":152307,"visible":true,"origin":"","legend":"\u003cp\u003eColonscopy images revealed an edematous sigmoidal mucosa without macroscopic lesions\u003c/p\u003e","description":"","filename":"Figure2.jpeg","url":"https://assets-eu.researchsquare.com/files/rs-3175783/v1/5f8fc777926a09b1ebddbdf7.jpeg"},{"id":40725226,"identity":"4c8a4856-d4c3-4b49-93c4-b35b8bcb844d","added_by":"auto","created_at":"2023-07-28 14:28:21","extension":"jpeg","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":41559,"visible":true,"origin":"","legend":"\u003cp\u003eImmunohistochemical examination show a CDX2 positive (a), a CK7 positive (b) and a CK20 negative (c) phenotype\u003c/p\u003e","description":"","filename":"Figure3.jpeg","url":"https://assets-eu.researchsquare.com/files/rs-3175783/v1/b7e05c84fa7b42aab56cb45b.jpeg"},{"id":45453699,"identity":"edd64341-094e-4ac9-8cb8-2ac54e79b554","added_by":"auto","created_at":"2023-10-30 15:03:29","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":327226,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-3175783/v1/5bc4fecf-0b39-4115-9bb2-496fa2bcc03b.pdf"}],"financialInterests":"","formattedTitle":"A rare istopathological diagnosis: Endometrioid adenocarcinoma localized in the rectum. A case report.","fulltext":[{"header":"INTRODUCTION","content":"\u003cp\u003eEndometriosis represents a common gynecologic condition. It is defined as the presence of endometrial glands in extrauterine sites [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e], like ovary, fallopian tubes, cervix, pouch of Douglas, small and large intestines, recto vaginal septum, and the appendix [\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. 5\u0026ndash;15% of women with endometriosis could suffer intestinal endometriosis. Bowel endometriosis is located especially in the sigmoid colon and the rectum (90%) [\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e] and it can rarely turn into intestinal tumors [\u003cspan additionalcitationids=\"CR5\" citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e]. In literature we found no more than 50 cases [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]. Hyperestrogenism is a possible risk factor for the development of cancer from endometriosis [\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]. Endometriosis-associated intestinal tumors (EAITs) may present with non-specific symptoms or manifest with bowel obstruction, intussusception, or perforation [\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e, \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]. The differential diagnosis includes any neoformation that invades the intestinal wall as well as colorectal carcinoma, especially in the presence of mucosal disruption. The definitive diagnosis is established by immunohistochemical analysis, which distinguish between endometrial adenocarcinoma (CK7+/CK20-) and intestinal adenocarcinoma (CK20+/CK7-) [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]. Five-year overall survival reaches 82\u0026ndash;100% [\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e]. In this article we present a rare case of a woman with a malignant trasformation of an endometriotic lesion of the sigmoid colon, who underwent emergency surgery for intestinal occlusion.\u003c/p\u003e"},{"header":"CASE REPORT","content":"\u003cp\u003eA 54 years old nulliparous postmenopausal woman was admitted to our emergency room with acute and persistent abdominal pain, vomit and intestinal blockage lasting two days. The patient had a past medical history of asymptomatic endometriosis ovarian cyst and fibromatous uterus discovered only 2 months before the presented acute event. She had no past familiar history of malignancies. Clinical examination revealed diffuse abdominal tenderness meanly situated in the left iliac fossa. An urgent contrast enhanced-CT (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e) showed intestinal obstruction with concentric thickening of the sigma and severe proximal distention of the colon with air-fluid levels. A colonscopy was performed and revealed an edematous sigmoidal mucosa, situated above 35\u0026ndash;40 cm from the anal margin without macroscopic lesions (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e). Endoscopic biopsies of this tract were negative for neoplastic cells. The patient was treated without surgery initially; after two days the clinical conditions worsened with an increase in abdominal pain, so exploratory laparotomy was performed. It pointed out severe intestinal distention above the stenosis of the sigma, that appear edematous and ischemic. No further lesions were observed in the uterine wall or in the left ovary. Left emicolectomy and colostomy were performed and the surgical resected specimens were sent to histological examination. Pathological specimens consisted of a stenosis lesion occupying about 2/3 of the lumen, extended for 3.5 cm. The histological specimens revealed the presence of a lesion, which microscopically involved the muscolaris propria and the pericolic adipose tissue. In addition, in the surrounding pericolic adipose tissue foci of endometriosis were observed. The immunophenotypic analysis revealed the following pattern: CK20-, CDX2-, PAX8+, CK7+, ER +/-, Vim+ (Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e). These findings were compatible with endometrioid adenocarcinoma. Two of the 19 examined pericolic lymph nodes were metastatic. According to the best clinical practice for oncological patients, the case was discussed to Multi-Disciplinary Team (MDT). The patient received adjuvant chemotherapy consisting of Paclitaxel 175 mg/mq\u0026thinsp;+\u0026thinsp;AUC5 carboplatin. A CT-TB was performed after 6 months and it was negative for neoplastic lesions, therefore the patient underwent Hartmann Reversal and bilateral hysteroannessectomy, in order to remove any possible residual endometriosis focus. The final histological diagnosis after surgery was clear cells ovarian cancer, without uterine repetitions with the immunohistochemical pattern: PAX \u0026igrave;8N, CK7+, CK20-, CDX2-. According to the MDT, the patient did not require further cycles of chemotherapy and she started the follow up period.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003c/p\u003e"},{"header":"DISCUSSION","content":"\u003cp\u003eAny extragonadal site of endometriosis can turn into malignancies. EAITs are most commonly found among women aged 30\u0026ndash;60 years, earlier than most colorectal cancers [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]. Hyperestrogenism is considered a risk factor for the development of cancer from endometriosis [\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]. The pelvic peritoneum, rectovaginal septum, vagina and colorectal serosa are the most common site. Among the EAITs, the rectosigmoid colon is the most common site, particularly in the antimesocolic border of the rectosigmoid colon [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]. The initial symptoms or signs are abdominal and/or pelvic pain, pelvic mass and vaginal bleeding [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e]. It can also begin acutely with small or large bowel obstruction due to a mass or acute abdomen due to intussusception or perforation, as occurred in our case [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eEndometrioid adenocarcinoma can simulate a colorectal carcinoma, as in the case of our patient. Analyzing the preoperative TC images (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e), it is very difficult distinguishing endometrioid carcinoma from adenocarcinoma. The diagnosis is based on histological and immunohistochemical analysis. In fact, primary colonic adenocarcinomas involved the mucosal layer and may be associated with precancerous lesions, like adenomatous changes or a neoplastic polyp. On the contrary, endometrioid adenocarcinomas usually show initial involvement of the outer layers of the colon; the mucosa is, therefore, frequently normal or shows only minimal changes endoscopically [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e]. In our case, the mucosa of the sigmoid was edematous, without macroscopic lesions. Microscopically, squamous differentiation within a glandular neoplasm of the colon is a characteristic strongly suggesting the endometriotic origin of a tumor. Immunohistochemical staining for CK7 and CK20 is also useful in the differential diagnosis of some carcinomas of epithelial origin. Among primary colonic adenocarcinomas, 75\u0026ndash;95% have a CK7- negative, CK20-positive phenotype, whereas 80\u0026ndash;100% of endometrioid adenocarcinomas have a CK7-positive, CK20- negative phenotype [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]. Occasional cases of endometrioid adenocarcinoma of the ovary could be positive to CD 2. [\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]. Regarding the treatment, there are no precise guidelines, and it is highly individualized. Patients who don\u0026rsquo;t manifest metastases, can undergo surgery with a complete resection of macroscopic disease. This was also the treatment selected in the case of our patient, since no dissemination of the disease was revealed during laparotomy. The therapeutic value of chemoradiation for metastatic EAIT is of unclear value. The situation is similar in the adjuvant setting after complete resection of disease because of only sporadic reports [\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e]. The prognosis of EAITs is associated with the stage of endometriosis. A 100% 5-year survival rate has been noted for malignant transformation in extragonadal endometriosis, confined to the site of origin. Disseminated intraperitoneal disease has a poor prognosis; the 5-year survival rate is only 12.5% [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]⁠.\u003c/p\u003e"},{"header":"CONCLUSIONS","content":"\u003cp\u003eIn this article, we report a case of EAIT with clinical features simulating a primary colonic carcinoma, including occlusion and bowel perforation. These tumors can be diagnostically challenging because they can resemble common primary neoplasms of the gastrointestinal tract both clinically and pathologically. A high index of suspicion in conjunction with careful histological and immunohistochemical examination (CK7, CK20, CDX2, CD10, ER, and PR) is important for establishing a correct diagnosis.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they have no commercial interest in the subject of the study and they did not receive any financial support.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConflict of interest\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics approval\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eProcedures performed in the studies involving human participants were carried out in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent to partecipate\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 was obtained from the individual(s) for the publication of any potentially identifiable images or data included in this article.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and material\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe original contributions presented in the study are included in the supplementary material, further inquiries can be directed to the corresponding author.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCode availability\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor’s contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Giovanna Carillo, Marco Di Giovan Paolo and Francesco Stipa. The first draft of the manuscript was written by Marco Pace and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eSanchez Cifuentes A, Candel Arenas MF, Albarrac\u0026iacute;n Mar\u0026iacute;n-Bl\u0026aacute;zquez A. Intestinal endometriosis. Our experience. Rev Esp Enferm Dig. 2016;108:524\u0026ndash;5. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.17235/reed.2016.4292/2016\u003c/span\u003e\u003cspan address=\"10.17235/reed.2016.4292/2016\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eVerma R, Osborn S, Horgan K. Endometrioid Adenocarcinoma of Caecum Causing Intussusception. Case Rep Surg. 2013;2013:1\u0026ndash;3. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttp://www.hindawi.com/journals/cris/2013/714126/\u003c/span\u003e\u003cspan address=\"http://www.hindawi.com/journals/cris/2013/714126/\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRodriguez-Lopez M, Bailon-Cuadrado M, Tejero-Pintor F, Choolani E, Fernandez-Perez G, Tapia-Herrero A. Ileocecal intussusception extending to left colon due to endometriosis. Ann R Coll Surg Engl. 2018;100(3):e62\u0026ndash;3.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHoang CD, Boettcher AK, Jessurun J, Pambuccian SE, Bullard KM. An Unusual Rectosigmoid Mass: Endometrioid Adenocarcinoma Arising in Colonic Endometriosis: Case Report and Literature Review. Am Surg. 2005;71(8):694\u0026ndash;7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLi N, Zhou W, Zhao L, Zhou J. Endometriosis-associated recto-sigmoid cancer: a case report. BMC Cancer. 2018;18(1):905.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eGarc\u0026iacute;a-Mar\u0026iacute;n JA, Pellicer-Franco EM, Soria-Aledo V, Mengual-Ballester M, Valero-Navarro G, Aguayo-Albasini JL. Malignant degeneration of rectal endometriosis. Rev Esp Enfermedades Dig. 2015;107(12):761\u0026ndash;4.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003ePalla V-V, Karaolanis G, Bliona T, Katafigiotis I, Anastasiou I, Hassiakos D. Endometrioid adenocarcinoma arising from colon endometriosis. SAGE Open Med Case Reports. 2017;5:2050313X1774520.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eZanetta GM, Webb MJ, Li H, Keeney GL, Hyperestrogenism. A Relevant Risk Factor for the Development of Cancer from Endometriosis. Gynecol Oncol. 2000;79(1):18\u0026ndash;22. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://linkinghub.elsevier.com/retrieve/pii/S0090825800959055\u003c/span\u003e\u003cspan address=\"https://linkinghub.elsevier.com/retrieve/pii/S0090825800959055\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eChu P, Wu E, Weiss LM. Cytokeratin 7 and Cytokeratin 20 Expression in Epithelial Neoplasms: A Survey of 435 Cases. Mod Pathol. 2000;13(9):962\u0026ndash;72.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eBenoit L, Arnould L, Cheynel N, Diane B, Causeret S, Machado A, et al. Malignant extraovarian endometriosis: A review. Eur J Surg Oncol. 2006;32(1):6\u0026ndash;11.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eSlavin RE, Krum R, Dinh T, Van. Endometriosis-associated intestinal tumors:A clinical and pathological study of 6 cases with a review of the literature. Hum Pathol. 2000;31(4):456\u0026ndash;63. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://linkinghub.elsevier.com/retrieve/pii/S0046817705800310\u003c/span\u003e\u003cspan address=\"https://linkinghub.elsevier.com/retrieve/pii/S0046817705800310\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eChen KTK. Endometrioid Adenocarcinoma Arising from Colonic Endometriosis Mimicking Primary Colonic Carcinoma. Int J Gynecol Pathol. 2002;21(3):285\u0026ndash;8. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttp://journals.lww.com/00004347-200207000-00014\u003c/span\u003e\u003cspan address=\"http://journals.lww.com/00004347-200207000-00014\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eKaimaktchiev V, Terracciano L, Tornillo L, Spichtin H, Stoios D, Bundi M, et al. The homeobox intestinal differentiation factor CDX2 is selectively expressed in gastrointestinal adenocarcinomas. Mod Pathol. 2004;17(11):1392\u0026ndash;9. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://linkinghub.elsevier.com/retrieve/pii/S0893395222042491\u003c/span\u003e\u003cspan address=\"https://linkinghub.elsevier.com/retrieve/pii/S0893395222042491\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eYantiss RK, Clement PB, Young RH. Neoplastic and Pre-Neoplastic Changes in Gastrointestinal Endometriosis. Am J Surg Pathol. 2000;24(4):513\u0026ndash;24. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttp://journals.lww.com/00000478-200004000-00005\u003c/span\u003e\u003cspan address=\"http://journals.lww.com/00000478-200004000-00005\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHeaps JM, Nieberg RK, Berek JS. Malignant neoplasms arising in endometriosis. Obstet Gynecol. 1990;75(6):1023\u0026ndash;8. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttp://www.ncbi.nlm.nih.gov/pubmed/2188180\u003c/span\u003e\u003cspan address=\"http://www.ncbi.nlm.nih.gov/pubmed/2188180\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"sn-comprehensive-clinical-medicine","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"sncm","sideBox":"Learn more about [SN Comprehensive Clinical Medicine](https://www.springer.com/journal/42399)","snPcode":"42399","submissionUrl":"https://submission.nature.com/new-submission/42399/3","title":"SN Comprehensive Clinical Medicine","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"endometrioid carcinoma, emergency surgery, ectopic endometriosis, case report","lastPublishedDoi":"10.21203/rs.3.rs-3175783/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-3175783/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e \u003cb\u003eIntroduction\u003c/b\u003e: Endometriosis-associated intestinal tumours represent the malignant trasformation of gastrointestinal endometriosis. Clinical features are similar to a colon tumor with abdominal or pelvic pain, dyschezia or bloody stools. Intestinal occlusion or perforation have also been described as a first presentation. The diagnosis is often postoperative and it is based on specific immunohistochemical patterns (CK7+/CK20-).\u003c/p\u003e \u003cp\u003e \u003cb\u003eCase presentation\u003c/b\u003e: In this article we present a rare case of a woman with a malignant trasformation of an endometriotic lesion of the sigmoid colon, who underwent emergency surgery for intestinal occlusion. She underwent an exploratory laparotomy and Hartmann resection. The immunophenotypic analysis of the specimens revealed the following pattern: CK20-, CK7+, compatible with the diagnosis of endometrioid adenocarcinoma.\u003c/p\u003e \u003cp\u003e \u003cb\u003eConclusions\u003c/b\u003e: Endometrioid carcinoma is a rare tumor, difficult to diagnose preoperatively because clinically it presents with symptoms similar to those of patients with sigmoid adenocarcinoma. A high index of suspicion in conjunction with careful histological and immunohistochemical examination (CK7, CK20, CDX2, CD10, ER, and PR) is important for establishing a correct diagnosis.\u003c/p\u003e","manuscriptTitle":"A rare istopathological diagnosis: Endometrioid adenocarcinoma localized in the rectum. A case report.","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2023-07-28 14:28:17","doi":"10.21203/rs.3.rs-3175783/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"reviewerAgreed","content":"","date":"2023-08-17T09:43:58+00:00","index":0,"fulltext":""},{"type":"reviewersInvited","content":"","date":"2023-07-25T07:51:42+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2023-07-24T04:56:18+00:00","index":"","fulltext":""},{"type":"submitted","content":"SN Comprehensive Clinical Medicine","date":"2023-07-21T15:22:21+00:00","index":"","fulltext":""},{"type":"decision","content":"Major revisions","date":"2023-07-20T04:25:05+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"sn-comprehensive-clinical-medicine","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"sncm","sideBox":"Learn more about [SN Comprehensive Clinical Medicine](https://www.springer.com/journal/42399)","snPcode":"42399","submissionUrl":"https://submission.nature.com/new-submission/42399/3","title":"SN Comprehensive Clinical Medicine","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"f33ccd0a-7aed-4a51-b621-458c0436ceb4","owner":[],"postedDate":"July 28th, 2023","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2023-10-30T15:02:57+00:00","versionOfRecord":{"articleIdentity":"rs-3175783","link":"https://doi.org/10.1007/s42399-023-01589-8","journal":{"identity":"sn-comprehensive-clinical-medicine","isVorOnly":false,"title":"SN Comprehensive Clinical Medicine"},"publishedOn":"2023-10-24 15:01:25","publishedOnDateReadable":"October 24th, 2023"},"versionCreatedAt":"2023-07-28 14:28:17","video":"","vorDoi":"10.1007/s42399-023-01589-8","vorDoiUrl":"https://doi.org/10.1007/s42399-023-01589-8","workflowStages":[]},"version":"v1","identity":"rs-3175783","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-3175783","identity":"rs-3175783","version":["v1"]},"buildId":"ehx78VzkSd0WSzXnipQa-","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}