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

Neil J. Rawlinson, William W. West, Marilu Nelson, Julia A. Bridge

Research output: Contribution to journalArticle

29 Scopus citations

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∼q15 are considered recurrent in aggressive angiomyxoma, although reported in only five previous cases. Translocation partner chromosome 21 is unique to the present case.

Original languageEnglish (US)
Pages (from-to)119-124
Number of pages6
JournalCancer genetics and cytogenetics
Volume181
Issue number2
DOIs
StatePublished - Mar 1 2008

    Fingerprint

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this