title: Mammary and vaginal myofibroblastomas are genetically related lesions: fluorescence in situ hybridization analysis shows deletion of 13q14 region.
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.
authors.affiliation: G.F. Ingrassia Department, Section of Anatomic Pathology, Policlinico Universitario-Vittorio Emanuele, University of Catania, 95123 Catania, Italy. g.magro@unict.it
authors.forename: Gaetano
authors.initials: G
authors.lastname: Magro
authors.forename: Alberto
authors.initials: A
authors.lastname: Righi
authors.forename: Laura
authors.initials: L
authors.lastname: Casorzo
authors.forename: Torrisi
authors.initials: T
authors.lastname: Antonietta
authors.forename: Lucia
authors.initials: L
authors.lastname: Salvatorelli
authors.forename: Denisa
authors.initials: D
authors.lastname: Kacerovská
authors.forename: Dmitry
authors.initials: D
authors.lastname: Kazakov
authors.forename: Michal
authors.initials: M
authors.lastname: Michal
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D018322:Angiofibroma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D014408:Biomarkers, Tumor / Q000378:metabolism; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002467:Cell Nucleus / Q000378:metabolism / Q000473:pathology; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism; D056426:Genetic Loci; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008067:Lipoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009379:Neoplasms, Muscle Tissue / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D014625:Vaginal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor; C085126:FOXO1 protein, human; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors