Mammary and vaginal myofibroblastomas are genetically related lesions: Fluorescence in situ hybridization analysis shows deletion of 13q14 region

Gaetano Magro, Alberto Righi, Laura Casorzo, Torrisi Antonietta, Lucia Salvatorelli, Denisa Kacerovská, Dmitry Kazakov, Michal Michal

Research output: Contribution to journalArticle

Abstract

Partial monosomy 13q, a chromosomal alteration originally reported in spindle cell lipoma, has also been documented in a few cases of mammary myofibroblastoma. Subsequently, a monoallelic loss of RB1 and FOXO1, located on 13q14, was identified in some cases of cellular angiofibroma, a benign stromal tumor of the lower female genital tract. This cytogenetic finding and the overlapping morphologic and immunohistochemical features shared by spindle cell lipoma, mammary myofibroblastoma, and cellular angiofibroma strongly suggest a histogenetic link among these tumors. Recently, we have emphasized morphologic and immunohistochemical similarities between mammary and vulvovaginal myofibroblastoma. The aim of the present study was to asses if these 2 tumors share the same chromosomal alteration. We studied the chromosome 13q14 region by fluorescence in situ hybridization analysis in a series of mammary and vaginal myofibroblastomas, with a readable signal in 7 of 13 mammary myofibroblastomas and 5 of 7 cases of vaginal myofibroblastomas. Despite histologic variation, most of the mammary (5/7) and vaginal (3/5) myofibroblastomas showed monoallelic deletion of FOXO1 in more than 22% of the cell populations. Our findings confirm that mammary myofibroblastoma is a tumor that exhibits chromosome abnormalities associated with the loss of the 13q14 region. In addition, we show for the first time that myofibroblastoma of the lower female genital tract also exhibits the same chromosomal abnormality, supporting the hypothesis that both tumors are in the spectrum of a single entity, likely arising from a common precursor cell.

Original languageEnglish
Pages (from-to)1887-1893
Number of pages7
JournalHuman Pathology
Volume43
Issue number11
DOIs
Publication statusPublished - Nov 2012

Keywords

  • 13q14 deletion
  • Breast
  • FISH
  • Myofibroblastoma
  • Vagina

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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