Immunohistochemical study as a tool in differential diagnosis of pediatric malignant rhabdoid tumor

Appl Immunohistochem Mol Morphol. 2010 Mar;18(2):150-8. doi: 10.1097/PAI.0b013e3181b91a51.

Abstract

Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression. INI1/BAF-47 showed negative protein nuclear expression in both cases, suggesting a diagnosis of MRT. An extensive immunohistochemical panel was performed to exclude pediatric tumors reminiscent of MRT. The genetic studies failed to detected MYCN amplification, 11q23 deletion, and EWS break-apart positivity. No alterations of 22q integrity were demonstrated with the probes used for the study (N25 Di George/22q11.2, 22qter, and EWS/22q12). We discuss the differential diagnosis in pediatric polyphenotypic tumors (Wilms tumor, neuroblastoma, desmoplastic small round cell tumor, and Ewing sarcoma). Analysis of INI1/BAF-47 expression can offer important clues in the diagnosis of pediatric tumors with rhabdoid phenotype. The integration of clinical, morphologic, immunohistochemical, and genetic data is required to approach a correct diagnosis of pediatric tumor in unusual location with atypical or undifferentiated morphology.

Publication types

  • Case Reports

MeSH terms

  • 12E7 Antigen
  • Antigens, CD
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Cell Adhesion Molecules
  • Chromosomal Proteins, Non-Histone / metabolism
  • Chromosome Aberrations
  • DNA-Binding Proteins / metabolism
  • Diagnosis, Differential
  • Drug Resistance, Neoplasm
  • Fatal Outcome
  • Female
  • Humans
  • Immunohistochemistry*
  • Infant
  • Infant, Newborn
  • Keratins / metabolism
  • Liver Neoplasms / diagnosis*
  • Liver Neoplasms / drug therapy
  • Liver Neoplasms / pathology
  • Liver Neoplasms / physiopathology
  • N-Myc Proto-Oncogene Protein
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / drug therapy
  • Neoplasms, Multiple Primary / pathology
  • Neoplasms, Multiple Primary / physiopathology
  • Nuclear Proteins / genetics
  • Oncogene Proteins / genetics
  • RNA-Binding Protein EWS / genetics
  • Rhabdoid Tumor / diagnosis*
  • Rhabdoid Tumor / drug therapy
  • Rhabdoid Tumor / physiopathology
  • Rhabdoid Tumor / secondary
  • SMARCB1 Protein
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / drug therapy
  • Skin Neoplasms / physiopathology
  • Skin Neoplasms / secondary
  • Transcription Factors / metabolism
  • Vimentin / metabolism

Substances

  • 12E7 Antigen
  • Antigens, CD
  • CD99 protein, human
  • Cell Adhesion Molecules
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins
  • RNA-Binding Protein EWS
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors
  • Vimentin
  • Keratins