Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features

Am J Dermatopathol. 2016 Mar;38(3):226-30. doi: 10.1097/DAD.0000000000000421.

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a low-to-intermediate grade infiltrative dermal neoplasm with a predilection for the trunk and extremities. DFSP in the vulvar region is extremely rare, with fewer than 50 cases reported to date in the literature. The histologic diagnosis of this neoplasm is facilitated by the characteristic storiform pattern of spindle cells with infiltration into the subcutaneous fat in a "honeycomb" pattern. However, morphologic variants including the very rare myxoid DFSP have been recognized that pose significant diagnostic difficulties, especially when they occur at unusual sites. The authors describe a case of myxoid DFSP of the vulva in a 44-year-old woman that was initially misdiagnosed as a neurofibroma. Subsequent excision led to significant challenges in diagnosis due to lack of typical morphology and unusual immunohistochemical staining pattern. Presence of peripheral adipose tissue trapping was noted focally that led to suspicion of DFSP. The diagnosis was confirmed by the detection of the characteristic COL1A1/PDGFB fusion transcript by reverse-transcription polymerase chain reaction. This case underscores the diagnostic challenge presented by variants of DFSP presenting in unusual locations and the value of molecular confirmation of the diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biomarkers, Tumor / analysis
  • Dermatofibrosarcoma / pathology*
  • Diagnostic Errors
  • Female
  • Humans
  • Immunohistochemistry
  • Neurofibroma / diagnosis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Skin Neoplasms / pathology*
  • Vulvar Neoplasms / pathology*

Substances

  • Biomarkers, Tumor