Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.
Pediatr Blood Cancer
; 56(7): 1026-31, 2011 Jul 01.
Article
en En
| MEDLINE
| ID: mdl-20848638
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Teratoma
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Neoplasias del Sistema Nervioso Central
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Tumor Rabdoide
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Predisposición Genética a la Enfermedad
Tipo de estudio:
Guideline
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Observational_studies
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Risk_factors_studies
Límite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos