VOLUME 3, ISSUE 2, P174, JUNE 01, 2022
Authors:
Greysha Rivera-Cruz, M.D., Baris Boyraz, M.D., Ph.D., John C. Petrozza, M.D.
Abstract:
We appreciate the interest and comments of Drs. Punjabi and Thomas in our publication entitled “How a woman’s myomectomy saved her father’s life: evidence of fumarate hydratase-deficient uterine leiomyoma and early detection of germline variants in fumarate hydratase” where we identified a woman with fumarate hydratase–deficient leiomyomas with the characteristic morphological features, immunohistochemistry confirmation, and molecular testing, which revealed a pathogenic germline variant in FH, gene encoding fumarate hydratase. This set of events resulted in familial risk assessment, screening, and early identification of renal carcinoma in the patient’s father (1). We understand the points Drs. Punjabi and Thomas presented and partially agree.
