The Waldo of fibroids under the microscope: fumarate hydratase–deficient leiomyomata

Letter to the Editor

VOLUME 3, ISSUE 2, P172-173, JUNE 01, 2022


Lavisha S. Punjabi, M.B.B.S., Anjula Thomas, F.R.C.P.A.


To the editor:
We read with interest the case report of Rivera-Cruz et al. (1) that illustrated the clinical implications of the identification of fumarate hydratase (FH)–deficient leiomyomata.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome, caused by heterozygous germline mutations of FH, an enzyme of the tricarboxylic acid cycle (also known as the Krebs cycle). Syndromic manifestations can be summarized by the triad of FH-deficient uterine leiomyomata, cutaneous (pilar) leiomyomata, and HLRCC-associated renal cell carcinoma (RCC). Other neoplasms that have been rarely described in this context include malignant paragangliomas and pheochromocytomas, testicular Leydig cell tumors, and breast and bladder carcinomas (2).

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