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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:
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.

Author Information

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.