Uterine leiomyoma occurs in about 20-30% of women over the age of 30, and is the most frequent benign tumor in gynecology.
Cytogenetics
Cytogenetic analysis of uterine leiomyomata (UL) shows that about 40% of these benign tumors have simple, clonal chromosomal rearrangements.
near-diploid karyotypes with del(1)(p11p36) (16320247)
- often associated with other aberrations, particularly loss of chromosomes 19 (19-) and/or 22 (22-)
- cellular UL
- hypercellularity and nuclear atypia
1q42 rearrangement (FH, fumarate hydratase) (15334541, 12419594)
10q22
- t(10;17) disrupts the histone acetyltransferase MORF (10q22) (monocytic leukemia zinc finger protein-related factor or MYST4). (15313893)
LOH and deletions
del(1)(p11p36) (16320247)
1q42 LOH and 1q42 deletions (FH, fumarate hydratase) (15334541, 12419594)
7p22
7q LOH (9%) (10484989, 9869453)
12q14 LOH (HMGA2)
15q26 LOH (15605361)
Molecular biology
allelotyping: 9869453
transcriptional profiling: 15101043
Variants
cellular uterine leiomyoma
References
Wang T, Zhang X, Obijuru L, Laser J, Aris V, Lee P, Mittal K, Soteropoulos P, Wei JJ. A micro-RNA signature associated with race, tumor size, and target gene activity in human uterine leiomyomas. Genes Chromosomes Cancer. 2007 Apr;46(4):336-47. PMID: 17243163
Quade BJ, Wang TY, Sornberger K, Dal Cin P, Mutter GL, Morton CC. Molecular pathogenesis of uterine smooth muscle tumors from transcriptional profiling. Genes Chromosomes Cancer. 2004 Jun;40(2):97-108. PMID: 15101043
Dal Cin P, Morton CC. 1q42 approximately q44 is rarely cytogenetically involved in sporadic uterine leiomyomata. Cancer Genet Cytogenet. 2002 Oct 1;138(1):92-3. PMID: 12419594