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.