Table 1.

Common Leiomyoma Mutations and Associated Phenotypes.

	Common leiomyoma mutations	Phenotypes	Mutation information
Somatic mutations	MED12	Small tumors made of SMC and fibroblasts	Most common mutation
	HMGA2	90% SMC, second most common mutation	Gene disrupted in fibroids with t(12;14)
	COL4A5, COL4A6	Rarely associated with diffuse leiomyomatosis/Alport syndrome which has X-linked inheritance	OMIM # 301050
Autosomally -dominant inherited or sporadic somatic mutations	Fumarate hydratase (FH)	Inherited mutations associated with HLRCC syndrome: cutaneous leiomyomas and renal cell cancer also atypical and cellular fibroids and increased risk of uterine sarcoma. Also gene responsible for syndrome previously described as Reed’s Syndrome	OMIM # 150800 Immunohistochemistry suggests alteration in FH in both inherited and somatic mutations.