Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: the importance of SMARCB1.
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.
Department of Pathology, Oregon Health and Science University, Portland, OR 97239, USA. Laueran@ohsu.edu
SourceThe American Journal of dermatopathology 34:6 2012 Aug pg e77-80
Chromosomal Proteins, Non-Histone
Chromosomes, Human, Pair 22
Combined Modality Therapy
Pub Type(s)Case Reports