Cutaneous location of atypical teratoid/rhabdoid tumour

Acta Derm Venereol. 2014 Jul;94(4):454-6. doi: 10.2340/00015555-1716.

Abstract

Atypical teratoid/rhabdoid tumour is a rare and highly malignant tumour of the posterior fossae nervous system that occurs in children especially in the first few years of life. Cutaneous location is not previously reported. A newborn boy was referred for both aqueductal stenosis detected antenatally and skin tags mimicking hamartoma. The cerebral tumour increased in size during a few months leading to both skin and cerebral biopsies. Integrase Interactor-1 (INI-1) immunostaining and tumoural and leukocytes INI-1 gene sequencing confirmed the atypical teratoid/rhabdoid tumour nature of the cerebral tumour. INI-1 immunostaining in skin biopsy confirmed the dermal location of rhabdoid tumour. Thus, unusual cutaneous lesions may be part of atypical teratoid/rhabdoid tumour. The loss of Integrase INI-1 on immunohistochemical staining is characteristic.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics
  • Biopsy
  • Brain Neoplasms / chemistry
  • Brain Neoplasms / drug therapy
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology*
  • Chromosomal Proteins, Non-Histone / analysis
  • Chromosomal Proteins, Non-Histone / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / analysis
  • DNA-Binding Proteins / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Male
  • Mutation
  • Predictive Value of Tests
  • Rhabdoid Tumor / chemistry
  • Rhabdoid Tumor / drug therapy
  • Rhabdoid Tumor / genetics
  • Rhabdoid Tumor / secondary*
  • SMARCB1 Protein
  • Skin Neoplasms / chemistry
  • Skin Neoplasms / drug therapy
  • Skin Neoplasms / genetics
  • Skin Neoplasms / secondary*
  • Teratoma / chemistry
  • Teratoma / drug therapy
  • Teratoma / genetics
  • Teratoma / secondary*
  • Time Factors
  • Transcription Factors / analysis
  • Transcription Factors / genetics
  • Treatment Outcome

Substances

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

Supplementary concepts

  • Teratoid Tumor, Atypical