INTRODUCTION
Uterine leiomyomas (ULMs) are the most common benign tumors in the female reproductive system, and their occurrence often manifests as familial aggregation. Chromosomal abnormalities detected by routine cytogenetic analysis included structural alterations of chromosome 12, translocations between chromosomes 12 and 14, deletions of part of the long arm of chromosome 7, and rearrangement involving the short arm of chromosome 6[1]. From a genomic perspective, ULMs have at least four major non-overlapping classes, listed in roughly decreasing order of the main genetic drivers are mediator subcomplex 12 (MED12) point mutation or deletion, high mobility group protein AT-hook 2 gene (HMGA2) overexpression, fumarate hydratase (FH) inactivation, and COL4A6-COL4A5 deletion[2]. Among them FH encoded by the FH gene, is an enzyme that catalyzes the conversion of fumarate to malate in the Krebs cycle. Germline mutations in FH predispose women to early onset and multiple ULMs. Here we report a case with a novel FH mutation carriers suffer from ULMs.