Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6

Am J Surg Pathol. 2010 Mar;34(3):341-54. doi: 10.1097/PAS.0b013e3181ce107b.

Abstract

Epithelioid and rhabdoid glioblastomas are rare entities that share some overlapping morphologic features, but remain poorly characterized at the immunohistochemical and genetic level. We report 10 examples: 8 epithelioid glioblastomas (E-GBMs) and 2 rhabdoid GBMs (R-GBMs). E-GBMs tended to be superficially located, circumscribed, supratentorial tumors composed of monotonous, discohesive sheets of small rounded cells that mimicked metastatic malignant melanoma. R-GBMs showed tumor with classic rhabdoid features arising as a subpopulation of an otherwise classic GBM, fitting the definition of composite extrarenal rhabdoid tumors. Polyphenotypic immunohistochemical expression and focal loss of INI-1 protein in the rhabdoid areas of R-GBMs distinguished them from E-GBMs. Monosomy 22 was identified in R-GBMs, but not E-GBMs. Immunostaining for claudin-6, a key component of tight junctions that we have earlier shown to be a positive cytoplasmic immunohistochemical marker for atypical teratoid or rhabdoid tumors (AT/RTs), was also conducted. None of the E-GBMs or R-GBMs showed claudin-6 cytoplasmic expression, including the focal areas in the 2 R-GBMs in which there was loss of INI-1 protein nuclear expression. Thus, in the CNS, claudin-6 expression may be a good discriminator of atypical teratoid or rhabdoid tumors from other CNS rhabdoid or epithelioid neoplasms.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biomarkers, Tumor / analysis*
  • Brain Neoplasms / chemistry
  • Brain Neoplasms / diagnosis*
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology
  • Child
  • Chromosomal Proteins, Non-Histone / analysis*
  • Chromosomes, Human, Pair 22*
  • Claudins
  • DNA-Binding Proteins / analysis*
  • Diagnosis, Differential
  • Epithelioid Cells / chemistry*
  • Epithelioid Cells / pathology
  • Female
  • Gene Expression Regulation, Neoplastic
  • Glioblastoma / chemistry
  • Glioblastoma / diagnosis*
  • Glioblastoma / genetics
  • Glioblastoma / pathology
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / analysis*
  • Monosomy*
  • Predictive Value of Tests
  • Rhabdoid Tumor / chemistry
  • Rhabdoid Tumor / diagnosis*
  • Rhabdoid Tumor / genetics
  • Rhabdoid Tumor / pathology
  • SMARCB1 Protein
  • Transcription Factors / analysis*
  • Young Adult

Substances

  • Biomarkers, Tumor
  • Chromosomal Proteins, Non-Histone
  • Claudins
  • DNA-Binding Proteins
  • Membrane Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors
  • claudin 6