A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family.
Rev Esp Enferm Dig
; 113(3): 179-182, 2021 Mar.
Article
em En
| MEDLINE
| ID: mdl-33213169
ABSTRACT
INTRODUCTION:
Gardner syndrome is a hereditary disease characterized by familial adenomatous polyposis (FAP), accompanied by soft tissue tumors. MATERIAL ANDMETHODS:
a Chinese FAP family was enrolled and followed-up for three years.RESULTS:
a novel large germline fragment deletion (EX10_16DEL) of the adenomatous polyposis coli (APC) gene was identified by multiplex ligation-dependent probe amplification (MLPA). An unexpected abdominal tumor grew two years after a subtotal colectomy of the proband. The immunohistochemistry study of the abdominal tumor showed SMA(focal+), calponin(+), ß-catenin(nucleus+) and CD34(focal+), CD117(-), which was consistent with a desmoid tumor.CONCLUSION:
when a FAP related desmoid tumor appears, the possibility of Gardner syndrome should be considered. This is the first largest deletion of the APC gene in the Chinese population associated with Gardner syndrome.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Gardner
/
Polipose Adenomatosa do Colo
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article