Genomic imbalances in benign metastasizing leiomyoma: characterization by conventional karyotypic, fluorescence in situ hybridization, and whole genome SNP array analysis.

Bowen JM, Cates JM, Kash S, Itani D, Gonzalez A, Huang D, Oliveira A, Bridge JA
Cancer Genet. 2012 205 (5): 249-54

PMID: 22682624 · PMCID: PMC3582220 · DOI:10.1016/j.cancergen.2012.04.005

Benign metastasizing leiomyoma, a rare condition of controversial origin, is characterized by the occurrence of extrauterine smooth muscle tumors primarily affecting the lungs of women with a history of uterine leiomyomas. Numerous genetic studies of uterine leiomyoma with rearrangements of the HMGA2 and HMGA1 loci defined in prominent subgroups have been conducted. In contrast, cytogenetic and molecular descriptions of benign metastasizing leiomyoma are few, and, in particular, this entity has not been previously subjected to single nucleotide polymorphism (SNP) array analysis. In this study, conventional karyotypic, and/or molecular cytogenetic, and SNP array characterization of a pleuropulmonary benign mestasizing leiomyoma and a synchronous deep soft tissue leiomyoma of the thigh, which arose in a 56-year-old female with a remote history of uterine leiomyomata, revealed rearrangement of the HMGA1 (6p21) locus and nearly identical genomic profiles, including loss of chromosome 7 material in both lesions. These findings suggest that both the deep soft tissue and pleuropulmonary lesions were derived from the same abnormal clone and are genetically related to uterine leiomyomata.

Copyright © 2012 Elsevier Inc. All rights reserved.

MeSH Terms (15)

Chromosome Deletion Chromosomes, Human, Pair 7 Female Gene Rearrangement Humans In Situ Hybridization, Fluorescence Karyotyping Leiomyoma Lung Neoplasms Middle Aged Muscle Neoplasms Oligonucleotide Array Sequence Analysis Polymorphism, Single Nucleotide Thigh Uterine Neoplasms

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