Case Report

Virchows Archiv

, Volume 449, Issue 2, pp 244-247

First online:

Extramammary myofibroblastoma is genetically related to spindle cell lipoma

  • Francesca MaggianiAffiliated withDepartment of Morphology and Molecular Pathology, University Hospital, Catholic University Leuven
  • , Maria Debiec-RychterAffiliated withHuman Genetics, University Hospital, Catholic University Leuven
  • , Guy VerbeeckAffiliated withDepartment of Pathology, St. Elisabeth Hospital
  • , Raf SciotAffiliated withDepartment of Morphology and Molecular Pathology, University Hospital, Catholic University LeuvenDepartment of Pathology, University Hospital St. Rafaël Email author 

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Abstract

Extramammary-type myofibroblastoma is a rare, benign spindle cell lesion, strictly resembling the breast counterpart, but occurring in extramammary sites, mainly in the inguinal/groin area. In this paper, we describe an extramammary-type myofibroblastoma in the groin of a 37-year-old male patient. The tumor showed a typical morphological and immunophenotypical profile, including staining for both CD34 and desmin. Dual-color interphase florescent in situ hybridization analysis revealed losses of RB/13q14 and FKHR/13q14 loci within tumor cells. The chromosome 13 rearrangements associated with the loss of the 13q14 chromosomal region are typically seen in spindle cell lipoma, and have been previously recognized in mammary myofibroblastoma, providing strong evidence for a pathogenetic link between these lesions.

Keywords

Mammary-type myofibroblastoma Spindle cell lipoma Immunohistochemistry Cytogenetics Chromosome 13