Germline APC mutations in hepatoblastoma.
Pediatr Blood Cancer
; 65(4)2018 04.
Article
en En
| MEDLINE
| ID: mdl-29251405
ABSTRACT
BACKGROUND:
Conflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB.METHODS:
An Institutional Review Board approved retrospective review of clinical data collected from patients with HB who received APC testing at our institution was conducted. All HB patients seen at Cincinnati Children's Hospital Medical Center were eligible for testing. Potential genotype/phenotype correlations were assessed.RESULTS:
As of July 2015, 29 patients with HB had received constitutional APC testing. Four (14%) were found to have APC pathogenic truncations of the APC protein and in addition two (7%) had APC missense variants of unknown clinical significance. Two patients (7%) had family histories indicative of familial adenomatous polyposis (FAP). Response to chemotherapy tracked differently in APC pathogenic cases, with a slower imaging response despite an equivalent or slightly faster α-fetoprotein (AFP) response.CONCLUSION:
The prevalence of pathogenic APC variants in apparently sporadic HB may be higher than previously detected. Differences in time to imaging response, despite similar AFP response, may impact surgical planning. All patients with HB warrant germline APC mutation testing for underlying FAP.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Secuencia de Bases
/
Eliminación de Secuencia
/
Hepatoblastoma
/
Mutación de Línea Germinal
/
Mutación Missense
/
Proteína de la Poliposis Adenomatosa del Colon
/
Neoplasias Hepáticas
Tipo de estudio:
Risk_factors_studies
Límite:
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2018
Tipo del documento:
Article