Fibro-osseous pseudotumor of digits - Expanding the spectrum of clonal transient neoplasms harboring USP6 rearrangement

Ann Diagn Pathol. 2018 Aug:35:53-55. doi: 10.1016/j.anndiagpath.2018.05.003. Epub 2018 May 12.

Abstract

Fibro-osseous pseudotumors of the digits (FOPD) is a rare self-limiting lesion composed of bland looking hypercellular fibrous tissue and bone. USP6 rearrangement is a consistent genetic finding in aneurysmal bone cyst, nodular fasciitis, myositis ossificans and giant cell lesions of small bones. We report herein the occurrence of USP6 rearrangement in fibro-osseous pseudotumors of the digits using fluorescence in situ hybridization analysis (FISH). Of the five patients included, three were female and two were male. The age ranged from 33 to 72 years (mean 48 years). Lesions arose in the palm (n = 2), thenar (n = 1), middle finger (n = 1) and great toe (n = 1). All patients underwent resection. Four cases (80%) harbored USP6 rearrangements showing that fibro-osseous pseudotumors of digits belongs to the spectrum of clonal transient neoplasms including aneurysmal bone cyst, nodular fasciitis, myositis ossificans and giant cell lesion of small bones.

Keywords: Fibro-osseous pseudotumor of digits; Soft tissue tumors; USP6 rearrangement.

MeSH terms

  • Adult
  • Aged
  • Diagnosis, Differential
  • Fasciitis / genetics*
  • Fasciitis / pathology
  • Female
  • Fingers / pathology*
  • Gene Rearrangement*
  • Humans
  • Male
  • Middle Aged
  • Proto-Oncogene Proteins / genetics*
  • Soft Tissue Neoplasms / genetics*
  • Soft Tissue Neoplasms / pathology
  • Ubiquitin Thiolesterase / genetics*

Substances

  • Proto-Oncogene Proteins
  • USP6 protein, human
  • Ubiquitin Thiolesterase