{"paper_id":"9cb67d56-a173-4b38-a562-9d871d351bd3","body_text":"Vol.:(0123456789)\nSN Comprehensive Clinical Medicine (2023) 5:254 \nhttps://doi.org/10.1007/s42399-023-01589-8\nCASE REPORT\nA Rare Histopathological Diagnosis: Endometrioid Adenocarcinoma \nLocalized in the Rectum: a Case Report\nMarco Pace1  · Giovanna Carillo1  · Marco Di Giovan Paolo2 · Francesco Stipa2 \nAccepted: 11 October 2023 / Published online: 24 October 2023 \n© The Author(s) 2023\nAbstract\nEndometriosis-associated intestinal tumors represent malignant transformation of gastrointestinal endometriosis. Clini-\ncal features are similar to colon tumor with abdominal or pelvic pain, dyschezia, or bloody stools. Intestinal occlusion or \nperforation has also been described as a first presentation. The diagnosis is often postoperative, and it is based on specific \nimmunohistochemical patterns (CK7+/CK20−). We present a rare case of a woman with a malignant transformation of an \nendometriotic lesion of the sigmoid colon, who underwent emergency surgery for intestinal occlusion. She underwent an \nexploratory laparotomy and Hartmann resection. The immunophenotypic analysis of the specimens revealed the following \npattern: CK20−, CK7+, compatible with the diagnosis of endometrioid adenocarcinoma. Endometrioid carcinoma is a rare \ntumor, difficult to diagnose preoperatively because of similar symptoms of sigmoid carcinoma. A high index of suspicion \nin conjunction with careful histological and immunohistochemical examination (CK7, CK20, CDX2, CD10, ER, and PR) \nis important for establishing a correct diagnosis.\nKeywords Endometrioid carcinoma · Emergency surgery · Ectopic endometriosis · Case report\nIntroduction\nEndometriosis represents a common gynecologic condition. \nIt is defined as the presence of endometrial glands in extrau-\nterine sites [1], like ovary, fallopian tubes, cervix, pouch of \nDouglas, small and large intestines, recto vaginal septum, \nand the appendix [2]. 5–15% of women with endometriosis \ncould suffer intestinal endometriosis. Bowel endometriosis \nis located especially in the sigmoid colon and the rectum \n(90%) [3], and it can rarely turn into intestinal tumors [4–6]. \nIn literature, we found no more than 50 cases [7 ]. Hypere-\nstrogenism is a possible risk factor for the development of \ncancer from endometriosis [ 8]. Endometriosis-associated \nintestinal tumors (EAITs) may present with non-specific \nsymptoms or manifest with bowel obstruction, intussuscep-\ntion, or perforation [4, 5]. The differential diagnosis includes \nany neoformation that invades the intestinal wall as well as \ncolorectal carcinoma, especially in the presence of mucosal \ndisruption. The definitive diagnosis is established by immu-\nnohistochemical analysis, which distinguishes between \nendometrial adenocarcinoma (CK7+/CK20−) and intesti -\nnal adenocarcinoma (CK20+/CK7−) [9 ]. Five-year overall \nsurvival reaches 82—100% [10]. In this article, we present a \nrare case of a woman with a malignant transformation of an \nendometriotic lesion of the sigmoid colon, who underwent \nemergency surgery for intestinal occlusion.\nCase Report\nA 54-year-old nulliparous postmenopausal woman was \nadmitted to our emergency room with acute and persistent \nabdominal pain, vomiting, and intestinal blockage lasting \ntwo days. The patient had a past medical history of asymp-\ntomatic endometriosis ovarian cyst and fibromatous uterus \ndiscovered only 2 months before the presented acute event. \nShe had no past familiar history of malignancies. Clinical \nThis article is part of the Topical Collection on  Surgery\n * Giovanna Carillo \n giovanna.carillo@uniroma1.it\n1 Department of Medical and Surgical Sciences \nand Translational Medicine, St. Andrea University Hospital, \nGeneral Surgery Unit, Sapienza University of Rome, Rome, \nItaly\n2 General Surgery Department, M.G. Vannini Hospital, \n00177 Rome, Italy\n\n SN Comprehensive Clinical Medicine (2023) 5:254\n254 Page 2 of 4\nexamination revealed diffuse abdominal tenderness mainly \nsituated in the left iliac fossa. An urgent contrast enhanced-\nCT (Fig.  1) showed intestinal obstruction with concentric \nthickening of the sigma and severe proximal distention of \nthe colon with air-fluid levels. A colonoscopy was performed \nand revealed an edematous sigmoidal mucosa, situated above \n35–40 cm from the anal margin without macroscopic lesions \n(Fig.  2). Endoscopic biopsies of this tract were negative for \nneoplastic cells. The patient was treated without surgery ini-\ntially; after two days, the clinical conditions worsened with \nan increase in abdominal pain. Exploratory laparotomy was \nperformed. It showed severe intestinal distention due to a \nstenosis of sigma, which appeared edematous and ischemic. \nNo further lesions were observed in the uterine wall or in \nthe left ovary. Left hemicolectomy and colostomy were per-\nformed, and the surgical resected specimens were sent to his-\ntological examination. Pathological specimens consisted of a \nstenosis lesion occupying about 2/3 of the lumen, extended \nfor 3.5 cm. The histological specimens revealed the presence \nof a lesion, which microscopically involved the muscularis \npropria and the pericolic adipose tissue. In addition, in the \nsurrounding pericolic adipose tissue, foci of endometriosis \nwere observed. The immunophenotypic analysis revealed \nthe following pattern: CK20−, CDX2−, PAX8+, CK7+, \nER +/−, Vim+ (Fig.  3). These findings were compatible \nwith endometrioid adenocarcinoma. Two of the 19 examined \npericolic lymph nodes were metastatic. The patient received \nadjuvant chemotherapy consisting of paclitaxel 175 mg/mq \n+ AUC5 carboplatin. A staging CT was performed after 6 \nmonths, and it was negative for neoplastic lesions; therefore, \nthe patient underwent Hartmann reversal and bilateral hys-\nteroannessectomy, in order to remove any possible residual \nFig. 1  Contrast-enhanced CT showed intestinal obstruction with con-\ncentric thickening of the sigma and severe proximal distention of the \ncolon with air-fluid levels\nFig. 2  Colonoscopy images revealed an edematous sigmoidal mucosa without macroscopic lesions\n\nSN Comprehensive Clinical Medicine (2023) 5:254 \n Page 3 of 4 254\nendometriosis focus. The final histological diagnosis after \nsurgery was clear cells ovarian cancer, without uterine rep-\netitions and foci of endometriosis, unlike the histological \nanalysis performed on the first surgery and with the immu-\nnohistochemical pattern: PAX ì8N, CK7+, CK20−, and \nCDX2−. Therefore, the two tumors were considered as two \ndifferent primary tumors: the first one was an EAIT and the \nsecond one was an ovarian cancer.\nDiscussion\nAny extragonadal site of endometriosis can turn into malig-\nnancies. EAITs (endometriosis-associated intestinal tumor) \nare most commonly found among women aged 30–60 years, \nearlier than most colorectal cancers [7 ]. Hyperestrogenism \nis considered a risk factor for the development of cancer \nfrom endometriosis [8]. The pelvic peritoneum, rectovaginal \nseptum, vagina, and colorectal serosa are the most common \nsite. Among the EAITs, the rectosigmoid colon is the most \ncommon site, particularly in the anti-mesocolic border of \nthe rectosigmoid colon [7 ]. The initial symptoms or signs \nare abdominal and/or pelvic pain, pelvic mass, and vaginal \nbleeding [11]. It can also begin acutely with small or large \nbowel obstruction due to a mass or acute abdomen due to \nintussusception or perforation, as occurred in our case [7 ].\nEndometrioid adenocarcinoma can simulate a colorectal \ncarcinoma, as in the case of our patient. Analyzing the pre-\noperative CT images (Fig.  1), it is very difficult distinguish-\ning endometrioid carcinoma from adenocarcinoma. The \ndiagnosis is based on histological and immunohistochemical \nanalysis. In fact, primary colonic adenocarcinomas involved \nthe mucosal layer and may be associated with precancerous \nlesions, like adenomatous changes or a neoplastic polyp. \nOn the contrary, endometrioid adenocarcinomas usually \nshow initial involvement of the outer layers of the colon; \nthe mucosa is frequently normal or shows only minimal \nchanges endoscopically [12]. In this case, the mucosa of \nthe sigmoid was edematous, without macroscopic lesions. \nMicroscopically, squamous differentiation within a glandular \nneoplasm of the colon is a characteristic strongly suggesting \nthe endometriotic origin of a tumor. Immunohistochemical \nstaining for CK7 and CK20 is also useful in the differential \ndiagnosis of some carcinomas of epithelial origin. Among \nprimary colonic adenocarcinomas, 75–95% have a CK7-\nnegative and CK20-positive phenotype, whereas 80–100% \nof endometrioid adenocarcinomas have a CK7-positive and \nCK20-negative phenotype [9]. Occasional cases of endome-\ntrioid adenocarcinoma of the ovary could be positive to CD \n2. [13]. Regarding treatment, there are no precise guidelines, \nand it is highly individualized. Patients who do not mani-\nfest metastases can undergo surgery with a complete resec-\ntion of macroscopic disease. This was also the treatment \nselected in this case, because dissemination of the tumor \nwas not revealed during laparotomy. The therapeutic value \nof chemoradiation for metastatic EAIT is of unclear value. \nThe situation is similar in the adjuvant setting after com-\nplete resection of disease because of only sporadic reports \n[14]. The prognosis of EAITs is associated with the stage of \nendometriosis. A 100% 5-year survival rate has been noted \nfor malignant transformation in extragonadal endometriosis, \nconfined to the site of origin. Disseminated intraperitoneal \ndisease has a poor prognosis; the 5-year survival rate is only \n12.5% [15]⁠.\nConclusions\nIn this article, we report a case of EAIT with clinical features \nsimulating a primary colonic carcinoma, including occlusion \nand bowel perforation. These tumors can be diagnostically \nchallenging because they can resemble common primary \nneoplasms of the gastrointestinal tract clinically and path-\nologically. A high index of suspicion in conjunction with \ncareful histological and immunohistochemical examination \n(CK7, CK20, CDX2, CD10, ER, and PR) is important for \nestablishing a correct diagnosis.\nAuthor Contribution All authors contributed to the study conception \nand design. Material preparation, data collection, and analysis were \nperformed by G.C., M.D.G.P., and F.S. The first draft of the manuscript \nFig. 3  Immunohistochemical examination show a CDX2 positive (a), a CK7 positive (b), and a CK20 negative (c) phenotype\n\n SN Comprehensive Clinical Medicine (2023) 5:254\n254 Page 4 of 4\nwas written by M.P., and all authors commented on previous versions \nof the manuscript. All authors read and approved the final manuscript.\nFunding Open access funding provided by Università degli Studi di \nRoma La Sapienza within the CRUI-CARE Agreement.\nData Availability  The original contributions presented in the study \nare included in the supplementary material; further inquiries can be \ndirected to the corresponding author.\nCode Availability Not applicable.\nDeclarations \nEthics Approval Procedures performed in the studies involving human \nparticipants were carried out in accordance with the ethical standards \nof the institutional and/or national research committee and with the \n1964 Helsinki declaration and its later amendments or comparable \nethical standards.\nConsent to Participate Not applicable.\nConsent for Publication Written informed consent was obtained from \nthe individual(s) for the publication of any potentially identifiable \nimages or data included in this article.\nConflict of Interest The authors declare no competing interests.\nOpen Access This article is licensed under a Creative Commons Attri-\nbution 4.0 International License, which permits use, sharing, adapta-\ntion, distribution and reproduction in any medium or format, as long \nas you give appropriate credit to the original author(s) and the source, \nprovide a link to the Creative Commons licence, and indicate if changes \nwere made. The images or other third party material in this article are \nincluded in the article’s Creative Commons licence, unless indicated \notherwise in a credit line to the material. If material is not included in \nthe article’s Creative Commons licence and your intended use is not \npermitted by statutory regulation or exceeds the permitted use, you will \nneed to obtain permission directly from the copyright holder. To view a \ncopy of this licence, visit http://creativecommons.org/licenses/by/4.0/.\nReferences\n 1. Sanchez Cifuentes A, Candel Arenas MF, Albarracín M-BA. \nIntestinal endometriosis. Our experience. Rev Esp Enferm Dig. \n2016;108:524–5. https:// doi. org/ 10. 17235/ reed. 2016. 4292/ 2016.\n 2. Verma R, Osborn S, Horgan K. Endometrioid adenocarcinoma of \ncaecum causing intussusception. Case Rep Surg. 2013;2013:1–3. \nhttp:// www. hinda wi. com/ journ als/ cris/ 2013/ 714126/\n 3. 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