Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant

Pediatr Blood Cancer. 2016 Aug;63(8):1451-3. doi: 10.1002/pbc.25996. Epub 2016 Apr 19.

Abstract

We report the successful use of multiplex ligation-dependent probe amplification (MLPA) to detect heterozygous loss of SMARCB1/INI1/SNF5 in the germ line of an infant with a huge posterior fossa tumor. MLPA and Sanger sequencing of the SMARCB1 gene in the germ line may be useful for the initial diagnosis in a defined subgroup of infants with rhabdoid tumors, in which biopsies cannot be performed.

Keywords: AT/RT; infants; rhabdoid tumor predisposition syndrome.

Publication types

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

MeSH terms

  • Central Nervous System Neoplasms / diagnosis*
  • Central Nervous System Neoplasms / genetics*
  • Central Nervous System Neoplasms / mortality
  • Gene Deletion
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Multiplex Polymerase Chain Reaction
  • Rhabdoid Tumor / diagnosis*
  • Rhabdoid Tumor / genetics*
  • Rhabdoid Tumor / mortality
  • SMARCB1 Protein / genetics*

Substances

  • SMARCB1 Protein
  • SMARCB1 protein, human