Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development

Nat Commun. 2017 Aug 21;8(1):300. doi: 10.1038/s41467-017-00346-5.

Abstract

Germline mutations of the SMARCB1 gene predispose to two distinct tumor syndromes: rhabdoid tumor predisposition syndrome, with malignant pediatric tumors mostly developing in brain and kidney, and familial schwannomatosis, with adulthood benign tumors involving cranial and peripheral nerves. The mechanisms by which SMARCB1 germline mutations predispose to rhabdoid tumors versus schwannomas are still unknown. Here, to understand the origin of these two types of SMARCB1-associated tumors, we generated different tissue- and developmental stage-specific conditional knockout mice carrying Smarcb1 and/or Nf2 deletion. Smarcb1 loss in early neural crest was necessary to initiate tumorigenesis in the cranial nerves and meninges with typical histological features and molecular profiles of human rhabdoid tumors. By inducing Smarcb1 loss at later developmental stage in the Schwann cell lineage, in addition to biallelic Nf2 gene inactivation, we generated the first mouse model developing schwannomas with the same underlying gene mutations found in schwannomatosis patients. SMARCB1 mutations predispose to rhabdoid tumors and schwannomas but the mechanisms underlying the tumor type specificity are unknown. Here the authors present new mouse models and show that early Smarcb1 loss causes rhabdoid tumors whereas loss at later stages combined with Nf2 gene inactivation causes shwannomas.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Child
  • Disease Models, Animal
  • Female
  • Gene Expression Profiling / methods
  • Germ-Line Mutation
  • Humans
  • Kaplan-Meier Estimate
  • Male
  • Mice, Knockout
  • Mice, Transgenic
  • Neurilemmoma / genetics*
  • Neurilemmoma / metabolism
  • Neurilemmoma / pathology
  • Neurofibromin 2 / genetics*
  • Neurofibromin 2 / metabolism
  • Rhabdoid Tumor / genetics*
  • Rhabdoid Tumor / metabolism
  • Rhabdoid Tumor / pathology
  • SMARCB1 Protein / genetics*
  • SMARCB1 Protein / metabolism
  • Time Factors

Substances

  • Neurofibromin 2
  • SMARCB1 Protein