Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation / Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X
Rev. esp. enferm. dig
; 104(3): 146-150, mar. 2012. ilus
Artigo
em Inglês
| IBECS
| ID: ibc-154271
Biblioteca responsável:
ES1.1
Localização: BNCS
ABSTRACT
Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors (AU)
RESUMEN
No disponible
Texto completo:
Disponível
Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Mutação em Linhagem Germinativa
/
Fibromatose Agressiva
/
Polipose Adenomatosa do Colo
/
Mutação
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Rev. esp. enferm. dig
Ano de publicação:
2012
Tipo de documento:
Artigo
Instituição/País de afiliação:
Aristotle University of Thessaloniki/Greece
/
General Regional Hospital George Papanikolaou/Greece