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Congenital Extrarenal Malignant Rhabdoid Tumor in an Infant With Distal 22q11.2 Deletion Syndrome: The Importance of SMARCB1

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

American Journal of Dermatopathology: August 2012 - Volume 34 - Issue 6 - p e77–e80
doi: 10.1097/DAD.0b013e31825793c3
Extraordinary Case Report

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.

Departments of *Pathology


Pediatric Dermatology

§Molecular and Medical Genetics and Pediatrics

Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR.

Reprints: Andrea L. Chakrapani, MD, Department of Pathology, Oregon Health and Science University (mailcode L113), 3181 SW Sam Jackson Park Road, Portland, OR 97239 (e-mail:

The authors declare no conflicts of interest.

© 2012 Lippincott Williams & Wilkins, Inc.