uterine leiomyoma
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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
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
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