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Article

Uterine PEComatosis With TSC1 Mutation in a Patient With Tuberous Sclerosis: Case Report and Literature Review.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists - 1 Sept 2022

Schechter Shula A, Udager Aaron M, Skala Stephanie L

Abstract excerpt

Uterine PEComatosis is a rare phenomenon characterized by the presence of multiple perivascular epithelioid cell tumors (PEComas) and/or microscopic proliferations of perivascular epithelioid cells. Herein, we report a case of PEComatosis arising in a 49-yr-old woman with a known history of tuberous sclerosis. Targeted next-generation sequencing revealed a TSC1 stopgain mutation (p.Q732X) in all tested nodules,...

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PMID: 34593703
DOI: 10.1097/PGP.0000000000000827

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