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

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

Research output: Contribution to journalArticle

5 Citations (Scopus)

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)
JournalAmerican Journal of Dermatopathology
Volume34
Issue number6
DOIs
StatePublished - Aug 2012

Fingerprint

Rhabdoid Tumor
DiGeorge Syndrome
Chromosome Deletion
Skin
Carcinogenesis
Genes
Neoplasms

Keywords

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

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Dermatology

Cite this

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AU - Chakrapani, Andrea L.

AU - White, Clifton

AU - Korcheva, Veselina

AU - White, Kevin

AU - Lofgren, Sabra

AU - Zonana, Jonathan (Jon)

AU - Moore, Stephen

AU - Krol, Alfons

AU - Mansoor, Atiya

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AB - 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.

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