{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:09:15Z","timestamp":1787846955811,"version":"build-2784847793"},"reference-count":36,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T00:00:00Z","timestamp":1753920000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background and Clinical Significance: Endometriosis is a common gynecological disease that can occasionally be associated with malignant transformation. The most common site of malignant transformation is the ovary, but there can also be rare extragonadal endometriosis-associated malignancy sites, such as the intestines, rectovaginal septum, and abdominal wall. A low number of malignant degenerations of rectal endometriosis are described in the literature. However, the majority of these cases report endometrioid adenocarcinoma as the most frequent histopathological type of tumor. On the other hand, M\u00fcllerian clear cell carcinoma is sporadic. Case Presentation: We present the case of a 43-year-old woman with clear cell carcinoma of the rectum, which developed on an endometriosis nodule, and the surgical outcome. Imaging of the case was performed by MRI. The patient was offered curative surgery. The pathology report confirmed a clear cell carcinoma developed on an endometriosis lesion, and immunochemistry helped in the characterization of the tumor. The patient developed a rectovaginal fistula. An ileostomy and surgical repair of the fistulous opening were performed, with a favorable postoperative recovery. Conclusions: Malignant transformation of endometriosis lesions is possible and should be taken into consideration. M\u00fcllerian clear cell carcinoma development within rectovaginal endometriosis is extremely rare.<\/jats:p>","DOI":"10.3390\/diagnostics15151936","type":"journal-article","created":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T08:51:41Z","timestamp":1754038301000},"page":"1936","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Rectal Clear Cell Carcinoma Arising from Endometriosis: Case Report and Literature Review"],"prefix":"10.3390","volume":"15","author":[{"given":"Adriana Ioana","family":"Gaia-Oltean","sequence":"first","affiliation":[{"name":"Regina Maria Hospital, 400117 Cluj-Napoca, Romania"},{"name":"\u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6832-9898","authenticated-orcid":false,"given":"Dan","family":"Boitor-Borza","sequence":"additional","affiliation":[{"name":"\u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Department of Obstetrics and Gynecology, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Voicu Caius","family":"Simedrea","sequence":"additional","affiliation":[{"name":"Regina Maria Hospital, Endoinstitut, 300645 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vlad","family":"Braicu","sequence":"additional","affiliation":[{"name":"2nd Surgery Clinic of the County Hospital Timisoara, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5806-0220","authenticated-orcid":false,"given":"Laura-Ancuta","family":"Pop","sequence":"additional","affiliation":[{"name":"\u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Genomics Department, MEDFUTURE-Institute for Biomedical Research, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3228-7881","authenticated-orcid":false,"given":"Romeo","family":"Micu","sequence":"additional","affiliation":[{"name":"Regina Maria Hospital, 400117 Cluj-Napoca, Romania"},{"name":"\u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"International Working Group of AAGL, ESGE, ESHRE and WES., Tomassetti, C., Johnson, N.P., Petrozza, J., Abrao, M.S., Einarsson, J.I., Horne, A.W., Lee, T.T.M., Missmer, S., and Vermeulen, N. (2021). An international terminology for endometriosis, 2021. Hum. Reprod. Open, 2021, hoab029.","DOI":"10.1093\/hropen\/hoab029"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.2174\/092986712800269362","article-title":"Role of microRNAs in Gynecological Pathology","volume":"19","author":"Ramon","year":"2012","journal-title":"Curr. Med. Chem."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"446","DOI":"10.4103\/ijmr.IJMR_817_18","article-title":"A Systematic Review on the Prevalence of Endometriosis in Women","volume":"154","author":"Moradi","year":"2021","journal-title":"Indian J. Med. Res."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Martire, F.G., Giorgi, M., D\u2019Abate, C., Colombi, I., Ginetti, A., Cannoni, A., Fedele, F., Exacoustos, C., Centini, G., and Zupi, E. (2024). Deep Infiltrating Endometriosis in Adolescence: Early Diagnosis and Possible Prevention of Disease Progression. J. Clin. Med., 13.","DOI":"10.3390\/jcm13020550"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/ca.24059","article-title":"The implications of the anatomy of the nerves and vessels in the treatment of rectosigmoid endometriosis","volume":"37","author":"Centini","year":"2024","journal-title":"Clin. Anat."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1016\/j.annpat.2015.11.014","article-title":"Rectal endometriosis: An exceptional etiology of acute intestinal occlusion","volume":"36","author":"Doh","year":"2016","journal-title":"Ann. Pathol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1093\/humupd\/dmaa045","article-title":"Endometriosis and cancer: A systematic review and meta-analysis","volume":"27","author":"Kvaskoff","year":"2021","journal-title":"Hum. Reprod. Update"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/jcu.23407","article-title":"Malignant Transformation of Rectal Endometriosis: Preoperative Diagnosis by Endorectal Ultrasound Guided Biopsy","volume":"51","author":"Liang","year":"2023","journal-title":"J. Clin. Ultrasound"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1053\/hp.2000.6712","article-title":"Endometriosis-Associated Intestinal Tumors:A Clinical and Pathological Study of 6 Cases with a Review of the Literature","volume":"31","author":"Slavin","year":"2000","journal-title":"Hum. Pathol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1309\/LMJCTYEH9S22VQXW","article-title":"Clear Cell Adenocarcinoma of the Colon Arising in the Background of Endometriosis: A Case Report and Diagnostic Approach","volume":"41","author":"Finkelstein","year":"2010","journal-title":"Lab. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1159\/000525071","article-title":"Right Colon Clear Cell Carcinoma of M\u00fcllerian Type","volume":"16","author":"Khefacha","year":"2022","journal-title":"Case Rep. Gastroenterol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.prp.2017.02.013","article-title":"Clear Cell Colorectal Carcinoma: Time to Clarify Diagnosis","volume":"213","author":"Remo","year":"2017","journal-title":"Pathol. Res. Pract."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Li, B., Wang, Y., Wang, Y., Li, S., and Liu, K. (2022). Deep infiltrating endometriosis malignant invasion of cervical wall and rectal wall with Lynch syndrome: A rare case report and review of literature. Front. Oncol., 12.","DOI":"10.3389\/fonc.2022.832228"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/his.13970","article-title":"Endometriosis-related pathology: A discussion of selected uncommon benign, premalignant and malignant lesions","volume":"76","author":"McCluggage","year":"2020","journal-title":"Histopathology"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1078\/0344-0338-00198","article-title":"Clear cell carcinoma arising in endometriosis of the rectum following progestin therapy","volume":"198","author":"Pokieser","year":"2002","journal-title":"Pathol. Res. Pract."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/den.12008","article-title":"Primary clear cell adenocarcinoma arising from rectal endometriosis","volume":"25","author":"Min","year":"2013","journal-title":"Dig. Endosc."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1016\/j.ijscr.2014.10.034","article-title":"A case of clear cell adenocarcinoma arising from endometriosis of the rectum treated by laparoscopic surgery","volume":"5","author":"Okazawa","year":"2014","journal-title":"Int. J. Surg. Case Rep."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1007\/s00428-024-03864-y","article-title":"M\u00fcllerian clear cell carcinoma arising from rectal endometriosis with pericolonic lymph node metastasis","volume":"486","author":"Lochner","year":"2025","journal-title":"Virchows Arch."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1111\/jog.14244","article-title":"Cancers associated with extraovarian endometriosis at less common\/rare sites: A nationwide survey in Japan","volume":"46","author":"Mandai","year":"2020","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.jviscsurg.2020.08.015","article-title":"Crude Complication Rate Is Not an Accurate Marker of a Surgeon\u2019s Skill: A Single Surgeon Retrospective Series of 1060 Procedures for Colorectal Endometriosis","volume":"158","author":"Roman","year":"2021","journal-title":"J. Visc. Surg."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1093\/humupd\/dmz047","article-title":"Cancer-associated mutations in endometriosis: Shedding light on the pathogenesis and pathophysiology","volume":"26","author":"Guo","year":"2020","journal-title":"Hum. Reprod. Update"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Saavalainen, L., Lassus, H., But, A., Gissler, M., Heikinheimo, O., and Pukkala, E. (2021). Incidence of extraovarian clear cell cancers in women with surgically diagnosed endometriosis: A cohort study. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0253270"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Amro, B., Ramirez Aristondo, M.E., Alsuwaidi, S., Almaamari, B., Hakim, Z., Tahlak, M., Wattiez, A., and Koninckx, P.R. (2022). New Understanding of Diagnosis, Treatment and Prevention of Endometriosis. Int. J. Environ. Res. Public Health, 19.","DOI":"10.3390\/ijerph19116725"},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Santandrea, G., Piana, S., Valli, R., Zanelli, M., Gasparini, E., De Leo, A., Mandato, V.D., and Palicelli, A. (2021). Immunohistochemical Biomarkers as a Surrogate of Molecular Analysis in Ovarian Carcinomas: A Review of the Literature. Diagnostics, 11.","DOI":"10.3390\/diagnostics11020199"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"751571","DOI":"10.1155\/2015\/751571","article-title":"The Association between Endometriomas and Ovarian Cancer: Preventive Effect of Inhibiting Ovulation and Menstruation during Reproductive Life","volume":"2015","author":"Grandi","year":"2015","journal-title":"BioMed Res. Int."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Koppolu, A., Maksym, R.B., Paskal, W., Machnicki, M., Rak, B., P\u0119pek, M., Garbicz, F., Pe\u0142ka, K., Ku\u015bmierczyk, Z., and Jacko, J. (2021). Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes. Cells, 10.","DOI":"10.3390\/cells10040749"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"De Leo, A., Santini, D., Ceccarelli, C., Santandrea, G., Palicelli, A., Acquaviva, G., Chiarucci, F., Rosini, F., Ravegnini, G., and Pession, A. (2021). What Is New on Ovarian Carcinoma: Integrated Morphologic and Molecular Analysis Following the New 2020 World Health Organization Classification of Female Genital Tumors. Diagnostics, 11.","DOI":"10.3390\/diagnostics11040697"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"243","DOI":"10.3892\/etm.2021.9674","article-title":"Ovarian endometriosis, a precursor of ovarian cancer: Histological aspects, gene expression and microRNA alterations","volume":"21","author":"Braicu","year":"2021","journal-title":"Exp. Ther. Med."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Adilbayeva, A., and Kunz, J. (2024). Pathogenesis of Endometriosis and Endometriosis-Associated Cancers. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25147624"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Smolarz, B., Szy\u0142\u0142o, K., and Romanowicz, H. (2021). Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms221910554"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Kurose, S., Nakayama, K., Razia, S., Ishikawa, M., Ishibashi, T., Yamashita, H., Sato, S., Sakiyama, A., Yoshioka, S., and Kobayashi, M. (2021). Whole-Exome Sequencing of Rare Site Endometriosis-Associated Cancer. Diseases, 9.","DOI":"10.3390\/diseases9010014"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"hoac009","DOI":"10.1093\/hropen\/hoac009","article-title":"ESHRE Endometriosis Guideline Group. ESHRE guideline: Endometriosis","volume":"2022","author":"Becker","year":"2022","journal-title":"Hum. Reprod. Open"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1210\/jc.2018-01464","article-title":"Plasma miRNAs display limited potential as diagnostic tools for endometriosis","volume":"104","author":"Nisenblat","year":"2019","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1210\/endrev\/bnad020","article-title":"Epigenetic Dysregulation in Endometriosis: Implications for Pathophysiology and Therapeutics","volume":"44","author":"Marquardt","year":"2023","journal-title":"Endocr. Rev."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Wang, J., Liu, Z., Xu, Y., Wang, Y., Wang, F., Zhang, Q., Ni, C., Zhen, Y., Xu, R., and Liu, Q. (2022). Enterobacterial LPS-inducible LINC00152 is regulated by histone lactylation and promotes cancer cells invasion and migration. Front. Cell. Infect. Microbiol., 12.","DOI":"10.3389\/fcimb.2022.913815"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1111\/his.13975","article-title":"The 2019 WHO Classification of Tumours of the Digestive System","volume":"76","author":"Nagtegaal","year":"2020","journal-title":"Histopathology"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/15\/1936\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:20:27Z","timestamp":1760034027000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/15\/1936"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,31]]},"references-count":36,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["diagnostics15151936"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15151936","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,31]]}}}