Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: the importance of SMARCB1

Am J Dermatopathol. 2012 Aug;34(6):e77-80. doi: 10.1097/DAD.0b013e31825793c3.

Abstract

Extrarenal rhabdoid tumor is a rare malignancy of infants and children, typically presenting in the soft tissue of deep, axial locations. We describe a rare dermal presentation of congenital extrarenal rhabdoid tumor in the left paraspinal region of a 6-month-old girl with germline deletion of chromosome 22q11.21q11.23. This case demonstrates that like other rhabdoid tumors, the SMARCB1 gene is also responsible for cutaneous extrarenal rhabdoid tumor oncogenesis.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosomal Proteins, Non-Histone / physiology*
  • Chromosomes, Human, Pair 22 / genetics
  • Combined Modality Therapy
  • Comorbidity
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / physiology*
  • DiGeorge Syndrome / epidemiology
  • DiGeorge Syndrome / physiopathology*
  • Drug Therapy
  • Female
  • Germ-Line Mutation / genetics
  • Humans
  • Infant
  • Radiotherapy
  • Rhabdoid Tumor / congenital*
  • Rhabdoid Tumor / epidemiology
  • Rhabdoid Tumor / physiopathology*
  • SMARCB1 Protein
  • Skin / pathology
  • Skin Neoplasms / congenital*
  • Skin Neoplasms / epidemiology
  • Skin Neoplasms / physiopathology*
  • Transcription Factors / genetics
  • Transcription Factors / physiology*
  • Treatment Outcome

Substances

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