Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system
Pediatric Blood & Cancer2010Vol. 56(7), pp. 1026–1031
Citations Over TimeTop 17% of 2010 papers
Carol S. Bruggers, Steven B. Bleyl, Theodore J. Pysher, Philip Barnette, Zeinab Afify, Marion L. Walker, Jaclyn A. Biegel
Abstract
Children with F-AT/RT are younger, have more extensive disease, and are more likely to die from PD than children with S-AT/RT. Surgery, radiation, and chemotherapy were important in achieving long-term survival. Pedigree analysis supports autosomal dominant inheritance pattern with incomplete penetrance. Germline SMARCB1 mutation analysis is important in all patients diagnosed with AT/RT to (1) determine actual incidence of F-AT/RT, (2) determine penetrance of predisposing mutations, (3) provide appropriate genetic counseling, and (4) establish surveillance screening guidelines.
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