Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor

Pediatr Blood Cancer. 2015 May;62(5):897-900. doi: 10.1002/pbc.25412. Epub 2015 Feb 7.

Abstract

We report on how MLPA and Sequencing of SMARCB1/INI1/SNF5 might be applied for initial diagnosis of rhabdoid tumor patients. These techniques were successfully used to detect loss of SMARCB1 in tumor cells of the ascites in a 3-month-old patient in which tumor biopsy could not initially be made due to life threatening intraabdominal bleedings.

Keywords: ATRT; chemotherapy; infants; radiation; rhabdoid tumors.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abdominal Neoplasms / diagnosis*
  • Abdominal Neoplasms / genetics
  • Abdominal Neoplasms / metabolism
  • Ascites / genetics
  • Ascites / metabolism
  • Ascites / pathology*
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism*
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosomal Proteins, Non-Histone / metabolism*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Female
  • Humans
  • Immunoenzyme Techniques
  • In Situ Hybridization, Fluorescence
  • Infant
  • Nucleic Acid Amplification Techniques
  • Polymerase Chain Reaction
  • Prognosis
  • Rhabdoid Tumor / diagnosis*
  • Rhabdoid Tumor / genetics
  • Rhabdoid Tumor / metabolism
  • SMARCB1 Protein
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*

Substances

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