Aggressive angiomyxoma with t(12;21) and HMGA2 rearrangement: report of a case and review of the literature

Abstract

Conventional cytogenetic analysis of an aggressive angiomyxoma of the rectal wall of a 72-year-old female revealed a translocation between the long arms of chromosomes 12 and 21 [46,XX,t(12;21) (q15;q21.1)]. Involvement of the HMGA2 gene locus (12q15) was confirmed by fluorescence in situ hybridization (FISH) using an HMGA2 breakpoint flanking probe set performed on metaphase and interphase cells from an in situ culture of fresh lesional tissue. Karyotypic rearrangements of 12q13-15 are considered recurrent in aggressive angiomyxoma, although reported in only five previous cases. Translocation partner chromosome 21 is novel to the current case.

Mutation of an X chromosome in aggressive angiomyxoma: Report of a case and review of the literature

“…Cytogenetic abnormalities have been identified in twelve cases of aggressive angiomyxoma to date (Rawlinson et al, 2008). Abnormalities of chromosome X were detected in two of these cases.…”

A translocation t(6;14) in two cases of leiomyosarcoma: Molecular cytogenetic and array-based comparative genomic hybridization characterization

“…They are involved in the differentiation and proliferation of mesenchymal tissues during embryonic development (16). Some lipomas, angiomyxomas, and uterine leiomyomas harbor a translocation involving HMGA2, at 12q15, which leads to a chimeric fusion product with different partners (15,(17)(18)(19). Translocations involving HMGA1 are identified in a subset of lipomas and uterine leiomyomas, including benign uterine metastasizing leiomyoma, which results in an upregulated expression of the chimeric protein (16,(20)(21)(22).…”

A rare case of aggressive angiomyxoma of vulva since childhood

“…15 Chromosomal abnormalities like translocation 12-21[46,XX,t(12;21)(q15;q21.1)] and rearrangement of HMGA 2 gene were detected on cytological studies. 8 Cytogenetic studies help to differentiate it from its less aggressive histological mimics.…”