Clinico-genetic aspects of a pediatric non-neurofibromatosis type 1 malignant triton tumor with loss of chromosome X

Pediatr Blood Cancer. 2012 Dec 15;59(7):1320-3. doi: 10.1002/pbc.24197. Epub 2012 May 18.

Abstract

Malignant triton tumor (MTT) is an aggressive peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Less than 100 cases have been described, being mostly male children with type 1 neurofibromatosis. We report a 6-year-old female with MTT and no diagnostic criteria for neurofibromatosis type 1. Cytogenetic analysis showed a 46,X,-X[4]/46,XX[16] karyotype. She underwent a transfemoral amputation and chemotherapy and is free of disease 15 months after diagnosis. The few cytogenetic studies of MTT described in the literature have been inconclusive. Further cytogenetic analyses are needed to understand the role of chromosome X monosomy in the pathogenesis of this rare tumor.

Publication types

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

MeSH terms

  • Child
  • Chromosomes, Human, X / genetics*
  • Cytogenetic Analysis
  • Female
  • Humans
  • Karyotype
  • Magnetic Resonance Imaging
  • Monosomy*
  • Neurilemmoma / diagnosis
  • Neurilemmoma / genetics*
  • Neurilemmoma / pathology
  • Thigh