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Comparative Study
. 2011 Jul 1;56(7):1026-31.
doi: 10.1002/pbc.22757. Epub 2010 Sep 16.

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system

Carol S Bruggers  1 , Steven B Bleyl, Theodore Pysher, Philip Barnette, Zeinab Afify, Marion Walker, Jaclyn A Biegel
Affiliations
Comparative Study

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system

Carol S Bruggers et al. Pediatr Blood Cancer. .

Abstract

Background: Central nervous system (CNS) atypical teratoid/rhabdoid tumors (AT/RT) are aggressive tumors usually diagnosed in young children and characterized by SMARCB1 (INI1, hSNF5) gene abnormalities. Despite initial chemo-radiation responsiveness, most children die of progressive disease (PD). Little data regarding familial AT/RT clinical course exist. This study described and compared familial (F) versus sporadic (S) AT/RT and elucidated SMARCB1 mutations and inheritance patterns.

Methods: A retrospective chart review, pedigree, and SMARCB1 analysis were done.

Results: Between January 1989 and June 2009, 20 children with CNS AT/RT were diagnosed, 8-S and 12-F. Median age at diagnosis (months) of S and F patient were: 13 and 4.8, respectively. Median survival (months) was S-21, F4.5, and 8-all. Pedigree analyses showed unaffected parent carriers with multiple affected offspring.

Conclusions: 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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Conflict of interest statement

Conflict of interest: Nothing to declare.

Figures

Fig. 1
Fig. 1
Pedigrees for Families F1, F2, and F5.
See this image and copyright information in PMC

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References

    1. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: Definition of an entity. J Neurosurg. 1996;85:56–65. - PubMed
    1. Biegel JA, Rorke LB, Emanuel BS. Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. N Engl J Med. 1989;321:906. - PubMed
    1. Rorke LB, Packer R, Biegel J. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol. 1995;24:21–28. - PubMed
    1. Packer RJ, Biegel JA, Blaney S, et al. Atypical teratoid/rhabdoid tumor of the central nervous system: Report on workshop. J Pediatr Hematol Oncol. 2002;24:337–342. - PubMed
    1. Olson TA, Bayar E, Kosnik E, et al. Successful treatment of disseminated central nervous system malignant rhabdoid tumor. J Pediatr Hematol Oncol. 1995;17:71–75. - PubMed

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