Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.
J Pediatr Hematol Oncol
; 38(5): e154-7, 2016 07.
Article
en En
| MEDLINE
| ID: mdl-26840078
ABSTRACT
The proportion and clinical characteristics of Gardner fibromas (GAFs) that are sporadic versus familial adenomatous polyposis (FAP)-associated have not been clearly established. We report on 7 patients diagnosed with GAF who underwent APC sequencing and duplication/deletion testing. Three (43%) were found to have underlying APC germline perturbations consistent with FAP; these patients had multifocal (1) or large; unresectable (2) GAFs. The 4 patients with negative APC testing each had a single resectable GAF. ß-catenin reactivity was noted in all FAP-associated GAFs and in 1/4 APC wild-type cases. FAP-associated GAFs may be less common than sporadic GAFs and can demonstrate clinically distinct features.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Gardner
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Genes APC
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Mutación de Línea Germinal
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Fibroma
Tipo de estudio:
Observational_studies
/
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:
J Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2016
Tipo del documento:
Article