{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T12:39:59Z","timestamp":1781008799159,"version":"3.54.1"},"reference-count":40,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>Perivascular epithelioid cell tumors are very rare mesenchymal neoplasms arising in various locations, such as the female genital tract, kidney, lung, prostate, bladder, pancreas, soft tissues, and bone. They possess a unique immunophenotype, co-expressing myogenic and melanocytic markers; molecular findings include mutations of tuberous sclerosis complex and translocations of transcription factor E3, a member of the microphthalmia transcription factor gene family. We herewith report a uterine collision tumor consisting of a perivascular epithelioid cell tumor and a moderately differentiated endometrial endometrioid carcinoma in a patient with genetically proven tuberous sclerosis; two leiomyomas were also found in contact with the tumor. Although two such cases one with a benign and another with a malignant perivascular epithelioid cell tumor have previously been reported, ours is, to our knowledge, the first reported in a tuberous sclerosis patient.<\/jats:p>","DOI":"10.3389\/fonc.2023.1244261","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T13:20:45Z","timestamp":1691587245000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Uterine collision tumor (PEComa and endometrioid carcinoma) in a tuberous sclerosis patient: a case report"],"prefix":"10.3389","volume":"13","author":[{"given":"Nektarios","family":"Koufopoulos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis S.","family":"Pateras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Koratzanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina-Roxani","family":"Gouloumis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Argyro-Ioanna","family":"Ieronimaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Fotiou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis G.","family":"Panayiotides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Vrachnis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anndiagpath.2015.06.003","article-title":"PEComa: morphology and genetics of a complex tumor family","volume":"19","author":"Thway","year":"2015","journal-title":"Ann Diagn pathol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1111\/j.1365-2559.2005.02316.x","article-title":"PEComa: what do we know so far","volume":"48","author":"Hornick","year":"2006","journal-title":"Histopathology"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3880360","article-title":"Primary extrapulmonary sugar tumor (PEST): a report of four cases","volume":"14","author":"Tazelaar","year":"2001","journal-title":"Modern Pathol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200009000-00007","article-title":"Clear cell myomelanocytic tumor of the falciform ligament\/ligamentum teres: a novel member of the perivascular epithelioid clear cell family of tumors with a predilection for children and young adults","volume":"24","author":"Folpe","year":"2000","journal-title":"Am J Surg pathol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/00000478-200201000-00001","article-title":"Perivascular epithelioid cell tumor (PEComa') of the uterus: a subset of HMB-45-positive epithelioid mesenchymal neoplasms with an uncertain relationship to pure smooth muscle tumors","volume":"26","author":"Vang","year":"2002","journal-title":"Am J Surg pathol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1097\/PAS.0000000000001119","article-title":"Uterine PEComas: a morphological, immunohistochemical, and molecular analysis of 32 tumors","volume":"42","author":"Bennett","year":"2018","journal-title":"Am J Surg pathol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22908","article-title":"Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract","volume":"60","author":"Bennett","year":"2021","journal-title":"Genes Chromosomes cancer."},{"key":"B8","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1097\/PAP.0b013e31802e0dc4","article-title":"Perivascular epithelioid cell tumor (PEComa) in the genitourinary tract","volume":"14","author":"Martignoni","year":"2007","journal-title":"Adv anatomic pathol"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.prp.2013.10.003","article-title":"A huge Malignant perivascular epithelioid cell tumor (PEComa) of the uterine cervix and vagina","volume":"210","author":"Natella","year":"2014","journal-title":"Pathol Res practice."},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1097\/PGP.0000000000000512","article-title":"Issues in the differential diagnosis of uterine low-grade endometrioid carcinoma, including mixed endometrial carcinomas: recommendations from the International Society of Gynecological Pathologists","volume":"38","author":"Rabban","year":"2019","journal-title":"Int J Gynecological Pathol"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2015.139","article-title":"Practical issues in uterine pathology from banal to bewildering: the remarkable spectrum of smooth muscle neoplasia","volume":"29","author":"Oliva","year":"2016","journal-title":"Modern Pathol"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.15425","article-title":"Metastatic thyroid osteosarcoma with concomitant multifocal papillary carcinoma presenting as a collision tumor","volume":"13","author":"Koufopoulos","year":"2021","journal-title":"Cureus"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.3207","article-title":"Synchronous colonic adenocarcinoma and metastatic lobular carcinoma in a colectomy specimen: A rare finding","volume":"10","author":"Koufopoulos","year":"2018","journal-title":"Cureus"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-z","article-title":"Identification and characterization of the tuberous sclerosis gene on chromosome 16","volume":"75","author":"Consortium","year":"1993","journal-title":"Cell"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805","article-title":"Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34","volume":"277","author":"Slegtenhorst","year":"1997","journal-title":"Science"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20080281","article-title":"The TSC1\u2013TSC2 complex: a molecular switchboard controlling cell growth","volume":"412","author":"Huang","year":"2008","journal-title":"Biochem J"},{"key":"B17","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1590\/1678-4685-gmb-2015-0321","article-title":"TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review","volume":"40","author":"Rosset","year":"2017","journal-title":"Genet Mol Biol"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1097\/01.pas.0000173232.22117.37","article-title":"Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature","volume":"29","author":"Folpe","year":"2005","journal-title":"Am J Surg pathol"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2016-0092-RS","article-title":"Predicting the behavior of perivascular epithelioid cell tumors of the uterine corpus","volume":"141","author":"Acosta","year":"2017","journal-title":"Arch Pathol Lab Med"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1177\/1066896912441829","article-title":"p53 in pure epithelioid PEComa: an immunohistochemistry study and gene mutation analysis","volume":"20","author":"Bing","year":"2012","journal-title":"Int J Surg pathol"},{"key":"B21","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1186\/1477-7819-10-181","article-title":"Successful treatment with the mTOR inhibitor everolimus in a patient with perivascular epithelioid cell tumor","volume":"10","author":"Gennatas","year":"2012","journal-title":"World J Surg Oncol"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2016-312001","article-title":"Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role","volume":"102","author":"Cardis","year":"2017","journal-title":"Arch Dis Childhood."},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000133","article-title":"Perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: clinicopathologic and immunohistochemical characterization of 16 cases","volume":"38","author":"Schoolmeester","year":"2014","journal-title":"Am J Surg pathol"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.4065\/70.7.641","article-title":"Extrapulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex","volume":"70","author":"Torres","year":"1995","journal-title":"Mayo Clinic Proc"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.humpath.2009.05.011","article-title":"Perivascular epithelioid cell neoplasms: pathology and pathogenesis","volume":"41","author":"Folpe","year":"2010","journal-title":"Hum pathol"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1097\/PGP.0000000000000653","article-title":"PNL2: A useful adjunct biomarker to HMB45 in the diagnosis of uterine perivascular epithelioid cell tumor (PEComa)","volume":"39","author":"Valencia-Guerrero","year":"2020","journal-title":"Int J gynecological Pathol"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1111\/his.13369","article-title":"PNL2: an adjunctive biomarker for renal angiomyolipomas and perivascular epithelioid cell tumours","volume":"72","author":"Gulavita","year":"2018","journal-title":"Histopathology"},{"key":"B28","doi-asserted-by":"publisher","first-page":"e00459","DOI":"10.1016\/j.crwh.2022.e00459","article-title":"Plexiform tumorlet in a wOman with postmenopausal endometrioid endometrial carcinoma taking tamoxifen for breast cancer: A case report","volume":"36","author":"Koufopoulos","year":"2022","journal-title":"Case Rep Women's Health"},{"key":"B29","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/nature12113","article-title":"Mike 1 CGARNGscBIGGGSBCKLESASCL, Heather WUiSLKCDDFRFLK-VJMMDOLMS, California UoS, 22 Laird Peter W. 22 Shen Hui 22 JHBSBBMSLPHTJTJVDBDJWDJ, 23 IfSBRSMSI. Integrated genomic characterization of endometrial carcinoma","volume":"497","author":"Levine","year":"2013","journal-title":"Nature"},{"key":"B30","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1002\/path.4056","article-title":"Use of mutation profiles to refine the classification of endometrial carcinomas","volume":"228","author":"McConechy","year":"2012","journal-title":"J pathol"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2017.15","article-title":"CTNNB1 (beta-catenin) mutation identifies low grade, early stage endometrial cancer patients at increased risk of recurrence","volume":"30","author":"Kurnit","year":"2017","journal-title":"Modern Pathol"},{"key":"B32","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/bjc.2015.190","article-title":"A clinically applicable molecular-based classification for endometrial cancers","volume":"113","author":"Talhouk","year":"2015","journal-title":"Br J cancer."},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-018-0080-0","article-title":"Nuclear \u03b2-catenin localization and mutation of the CTNNB1 gene: a context-dependent association","volume":"31","author":"Kim","year":"2018","journal-title":"Modern Pathol"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.4132\/jptm.2016.04.20","article-title":"A case of Malignant PEComa of the uterus associated with intramural leiomyoma and endometrial carcinoma","volume":"50","author":"Choi","year":"2016","journal-title":"J Pathol Trans Med"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1080\/01443610410001722905","article-title":"Perivascular epithelioid cell tumour (PEComa) of the uterus associated with Malignant neoplasm of the female genital tract","volume":"24","author":"Gao","year":"2004","journal-title":"J obstetrics gynaecol"},{"key":"B36","article-title":"Uterine perivascular epithelioid cell neoplasms (PEComas): report of two cases and literature review","volume":"35","author":"Cossu","year":"2014","journal-title":"Eur J gynaecological Oncol"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1136\/ijgc-2020-001837","article-title":"Uterine rupture: an unusual presentation of a uterine perivascular epithelioid cell tumor (PEComa)","volume":"30","author":"Van Nguyen","year":"2020","journal-title":"Int J Gynecological Cancer."},{"key":"B38","doi-asserted-by":"publisher","first-page":"111","DOI":"10.14660\/2385-0868-024","article-title":"A very rare case of uterine PEComa HMB45 negative: primitive or relapse","volume":"27","author":"Pecorino","year":"2015","journal-title":"Ital J gynaecol obstetrics"},{"key":"B39","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ijsu.2015.05.002","article-title":"Perivascular epithelioid cell neoplasm (PEComa) of the uterus: A systematic review","volume":"19","author":"Musella","year":"2015","journal-title":"Int J surgery."},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.21.01728","article-title":"nab-Sirolimus for patients with Malignant perivascular epithelioid cell tumors","volume":"39","author":"Wagner","year":"2021","journal-title":"J Clin Oncol"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2023.1244261\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T13:20:49Z","timestamp":1691587249000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2023.1244261\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,9]]},"references-count":40,"alternative-id":["10.3389\/fonc.2023.1244261"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2023.1244261","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,9]]},"article-number":"1244261"}}