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JNCI Journal of the National Cancer Institute 2000 92(8):648-650; doi:10.1093/jnci/92.8.648
© 2000 by Oxford University Press
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Journal of the National Cancer Institute, Vol. 92, No. 8, 648-650, April 19, 2000
© 2000 Oxford University Press

BRIEF COMMUNICATIONS

Mutations of the hSNF5/INI1 Gene in Renal Rhabdoid Tumors With Second Primary Brain Tumors

Jayshree Savla, Tina T.-Y. Chen, Nancy R. Schneider, Charles F. Timmons, Olivier Delattre, Gail E. Tomlinson

Affiliations of authors: J. Savla, T. T.-Y. Chen (Hamon Center for Therapeutic Oncology Research), N. R. Schneider, C. F. Timmons (Department of Pathology), G. E. Tomlinson (Department of Pediatrics and Hamon Center for Therapeutic Oncology Research), The University of Texas Southwestern Medical Center, Dallas; O. Delattre, Institut Curie, Paris, France.

Correspondence to: Gail E. Tomlinson, M.D., Ph.D., Department of Pediatrics and Hamon Center for Therapeutic Oncology Research, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75235-8593 (e-mail: tomlinson@simmons.swmed.edu).

Rhabdoid tumor of the kidney is a rare and aggressive childhood cancer (1). Although the infant kidney is the most common site of rhabdoid tumors, these tumors occasionally occur at other sites and in older children and adults (2,3). Less than 25% of infants and young children with rhabdoid tumor of the kidney survive (4,5). Rhabdoid tumor is defined histologically by large cells, which may resemble benign or malignant skeletal muscle cells, with vesicular nuclei, prominent nucleoli, and abundant cytoplasm containing intermediate filaments. The cell of origin is unknown.

About 10%–15% of rhabdoid tumors of the kidney in young infants are associated with separate primary tumors of the central nervous system (CNS) (1,6). The . . . [Full Text of this Article]

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