title: 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 woman revealed a translocation between the long arms of chromosomes 12 and 21, with the karyotype 46,XX,t(12;21)(q15;q21.1). Involvement of the HMGA2 gene locus (12q15) was confirmed by fluorescence in situ hybridization 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 approximately q15 are considered recurrent in aggressive angiomyxoma, although reported in only five previous cases. Translocation partner chromosome 21 is unique to the present case.
authors.affiliation: Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198-3135, USA.
authors.forename: Neil J
authors.initials: NJ
authors.lastname: Rawlinson
authors.forename: William W
authors.initials: WW
authors.lastname: West
authors.forename: Marilu
authors.initials: M
authors.lastname: Nelson
authors.forename: Julia A
authors.initials: JA
authors.lastname: Bridge
mesh_terms: D000368:Aged; D002881:Chromosomes, Human, Pair 12; D002891:Chromosomes, Human, Pair 21; D005260:Female; D015321:Gene Rearrangement; D025743:HMGA2 Protein / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009232:Myxoma / Q000235:genetics* / Q000473:pathology; D012004:Rectal Neoplasms / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic
chemical_list: D025743:HMGA2 Protein