Nodular fasciitis of the breast: Report of two cases illustrating the diagnostic implications for USP6 gene rearrangement and brief review of the literature

Exp Mol Pathol. 2021 Dec:123:104690. doi: 10.1016/j.yexmp.2021.104690. Epub 2021 Sep 28.

Abstract

Nodular fasciitis is a benign, self-limited, pseudosarcomatous neoplasm that is cytogenetically characterized by recurrent USP6 gene rearrangement. Involvement of the breast by nodular fasciitis is very rare with only a few documented cases. It can clinically, radiologically and histologically mimic a malignancy, posing significant diagnostic challenges to clinicians, radiologists, and pathologists. In this study, we report 2 cases of nodular fasciitis occurring in the female breast, reviewing the literature and emphasizing the application of fluorescence in situ hybridization analysis of USP6 gene rearrangement in its diagnosis and differential diagnosis.

Keywords: Nodular fasciitis. Breast. USP6 rearrangement.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast / diagnostic imaging
  • Breast / metabolism*
  • Breast / pathology
  • Diagnosis, Differential
  • Fasciitis / diagnosis*
  • Fasciitis / genetics
  • Fasciitis / pathology
  • Female
  • Gene Rearrangement / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Middle Aged
  • Neoplasms / diagnosis*
  • Neoplasms / genetics
  • Neoplasms / pathology
  • Ubiquitin Thiolesterase / genetics*
  • Ubiquitin Thiolesterase / isolation & purification

Substances

  • USP6 protein, human
  • Ubiquitin Thiolesterase