AUTHOR=Koufopoulos Nektarios , Pateras Ioannis S. , Koratzanis Christos , Gouloumis Alina-Roxani , Ieronimaki Argyro-Ioanna , Fotiou Alexandros , Panayiotides Ioannis G. , Vrachnis Nikolaos TITLE=Uterine collision tumor (PEComa and endometrioid carcinoma) in a tuberous sclerosis patient: a case report JOURNAL=Frontiers in Oncology VOLUME=13 YEAR=2023 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1244261 DOI=10.3389/fonc.2023.1244261 ISSN=2234-943X ABSTRACT=

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.