leiomyomatoses
Localization
cutaneous leiomyomatosis
digestive leiomyomatosis
- oesophageal leiomyomatosis
intraveinous leiomyomatosis
peritoneal leiomyomatosis
Predisposition (familial leiomyomatosis)
mutation in the gene encoding fumarate hydratase (FH) (MIM.136850)
- hereditary multiple cutaneous leiomyoma mutation in the gene encoding fumarate hydratase (FH) (MIM.136850)
- hereditary leiomyomatosis and renal cell cancer syndrome (MIM.605839)
in multiple endocrine neoplasia type 1 (MEN1) (83% of 11q13 LOH) (#11549605#)
- multiple leiomyomas of the esophagus, lung, and uterus
COL4A6 deletions in diffuse leiomyomatosis (MIM.308940) with X-linked Alport syndrome at Xq22.3 (MIJM.301050)
Cytogenetics
t(12; 14)(q15;q24) (12q15 and 14q24) (#11904348#)
- three copies of HMGIC (alias HMGA2), two on the normal chromosomes 12 at 12q15, as well as another on the der(14) in the breakpoint region, suggesting that the 12q breakpoint occurred 5’ (centromeric) to HMGIC (HMGA2) (#11904348#)
monosomy 22 (-22) (#11904348#)
cytogenetic abnormalities involving chromosomes 7, 12, and 18 (#9176406#)
References
Quade BJ, Dal Cin P, Neskey DM, Weremowicz S, Morton CC. Intravenous leiomyomatosis: molecular and cytogenetic analysis of a case. Mod Pathol. 2002 Mar;15(3):351-6. PMID: #11904348#
Quade BJ, McLachlin CM, Soto-Wright V, Zuckerman J, Mutter GL, Morton CC. Disseminated peritoneal leiomyomatosis. Clonality analysis by X chromosome inactivation and cytogenetics of a clinically benign smooth muscle proliferation. Am J Pathol. 1997 Jun;150(6):2153-66. PMID: #9176406#
Mark J, Havel G, Dahlenfors R, Wedell B. Cytogenetics of multiple uterine leiomyomas, parametrial leiomyoma and disseminated peritoneal leiomyomatosis. Anticancer Res. 1991 Jan-Feb;11(1):33-9. PMID: #2018368#