Utility of STAT6 and 13q14 deletion in the classification of the benign spindle cell stromal tumors of the breast

Hum Pathol. 2018 Nov:81:55-64. doi: 10.1016/j.humpath.2018.06.015. Epub 2018 Jun 27.

Abstract

The boundaries of the benign spindle cell stromal tumors of the breast are still confusing. This is the reason why different names are interchangeably used for the same tumor and vice versa the same name for different tumors. Therefore, we studied the immunoexpression of easily available markers, such as CD34, α-smooth muscle actin, and desmin, with the addition of STAT6, as well as the chromosome 13q14 region by fluorescence in situ hybridization analysis in a series of 19 cases of benign spindle cell stromal tumors of the breast. Based on the morphologic and immunohistochemical findings, the following histotypes were identified: (i) tumors (10/19 cases) with the characteristic morphology of myofibroblastoma and stained with vimentin, CD34, desmin, and α-smooth muscle actin; (ii) fibroblastic benign spindle cell tumors (5/19 cases) composed of fibroblast-like cells stained only with vimentin and CD34; (iii) tumors (2/19 cases) with the typical morphologic features of solitary fibrous tumor and stained with vimentin, CD34, and STAT6; (iv) 1 case of spindle cell lipoma stained with vimentin and CD34; and (v) 1 case of fibroma composed of a paucicellular, diffusely hyalinized stroma with expression of vimentin and CD34. Notably most of the tumors, with the exception of solitary fibrous tumor, showed monoallelic deletion of FOXO1. This finding supports that myofibroblastoma, fibroblastic benign spindle cell tumor, spindle cell lipoma, and fibroma of the breast are histogenetically related lesions which belong to the same tumor entity.

Keywords: 13q14 deletion; Benign spindle cell tumors; Breast; STAT6; Stroma.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor* / analysis
  • Biomarkers, Tumor* / genetics
  • Breast Neoplasms / chemistry*
  • Breast Neoplasms / classification
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Breast Neoplasms, Male / chemistry
  • Breast Neoplasms, Male / genetics
  • Breast Neoplasms, Male / pathology
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Female
  • Fibroma / chemistry
  • Fibroma / genetics
  • Fibroma / pathology
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Lipoma / chemistry
  • Lipoma / genetics
  • Lipoma / pathology
  • Male
  • Middle Aged
  • Neoplasms, Connective and Soft Tissue / chemistry*
  • Neoplasms, Connective and Soft Tissue / classification
  • Neoplasms, Connective and Soft Tissue / genetics*
  • Neoplasms, Connective and Soft Tissue / pathology
  • Neoplasms, Muscle Tissue / chemistry
  • Neoplasms, Muscle Tissue / genetics
  • Neoplasms, Muscle Tissue / pathology
  • Phenotype
  • Predictive Value of Tests
  • STAT6 Transcription Factor / analysis*
  • Solitary Fibrous Tumors / chemistry
  • Solitary Fibrous Tumors / genetics
  • Solitary Fibrous Tumors / pathology
  • Stromal Cells / chemistry*
  • Stromal Cells / pathology

Substances

  • Biomarkers, Tumor
  • STAT6 Transcription Factor
  • STAT6 protein, human