Atypical fibrous histiocytoma of the skin with CD30 and p80/ALK1 positivity and ALK gene rearrangement

J Cutan Pathol. 2014 Sep;41(9):715-9. doi: 10.1111/cup.12352. Epub 2014 Jun 25.

Abstract

We report the case of a two patients who presented with a solitary, asymptomatic, angiomatoid nodule on the right thigh. Histopathological finding showed a poorly circumscribed lesion, located in the dermis. The morphological aspect strongly suggested the diagnosis of atypical fibrous histiocytoma (AFH), but surprisingly, the neoplastic cells were diffusely CD30+, with a membrane staining devoid of paranuclear dot. The lesions were tested for p80/ALK1 expression. Surprisingly, we found a diffuse cytoplasmic positivity. Interestingly, using break-apart fluorescent in situ hybridization (FISH), we evidenced an ALK rearrangement in nearly 50% of the neoplastic cells. The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibility of three diagnoses: a primary cutaneous anaplastic large cell lymphoma (ALCL), a cutaneous inflammatory myofibroblastic tumor (IMT), an AFH of the skin associated with ALK gene rearrangement and CD30 positivity. The three hypotheses were discussed and finally, although p80/ALK1 expression and cytogenetic abnormalities in fibrous histiocytoma (FH) are not yet reported to the best of our knowledge, we favored the diagnosis of AFH.

Keywords: ALK rearrangement; atypical fibrous histiocytoma; inflammatory myofibroblastic tumor; p80/ALK1 expression.

Publication types

  • Case Reports

MeSH terms

  • Activin Receptors, Type II / genetics
  • Activin Receptors, Type II / metabolism*
  • Adult
  • Diagnosis, Differential
  • Female
  • Gene Rearrangement*
  • Histiocytoma, Benign Fibrous / genetics
  • Histiocytoma, Benign Fibrous / metabolism
  • Histiocytoma, Benign Fibrous / pathology*
  • Humans
  • Ki-1 Antigen / metabolism*
  • Male
  • Skin / metabolism
  • Skin / pathology
  • Skin Neoplasms / genetics
  • Skin Neoplasms / metabolism
  • Skin Neoplasms / pathology*
  • Thigh / pathology
  • Young Adult

Substances

  • Ki-1 Antigen
  • ACVRL1 protein, human
  • Activin Receptors, Type II