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

Andrea L. Chakrapani, Clifton R. White, Veselina Korcheva, Kevin White, Sabra Lofgren, Jonathan Zonana, Stephen Moore, Alfons Krol, Atiya Mansoor

Research output: Contribution to journalArticle

5 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)e77-e80
JournalAmerican Journal of Dermatopathology
Volume34
Issue number6
DOIs
StatePublished - Aug 1 2012

Keywords

  • SMARCB1 gene
  • chromosome 22q11.2
  • rhabdoid tumor

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Dermatology

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