A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad

• Tipo: Artigo em Revista Científica Internacional
• Data: 2012

Autores

Ricardo Celestino (Autor) Outra; Jorge Lima (Autor) FMUP; Alexandra Faustino (Autor) Outra; Valdemar Maximo (Autor) FMUP; Antonio Gouveia (Autor) Outra; Joao Vinagre (Autor) Outra; Paula Soares (Autor) FMUP; Jose Manuel Lopes (Autor) FMUP

Revista

Título: Familial Cancer

Vol. 11

Páginas: 189-194

ISSN: 1389-9600

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 16 Citações

Scopus - 18 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-002-9GN

DOI: 10.1007/s10689-011-9499-x

Abstract (EN): Gastrointestinal stromal tumors (GISTs) are the most common mesenchyme neoplasms of the gastrointestinal tract. Gain-of-function somatic mutations of the KIT or PDGFRA genes represent the most prevalent molecular alterations in GISTs. In Carney-Stratakis dyad, patients portray germline mutations of the succinate dehydrogenase subunits B (SDHB), C (SDHC) and D (SDHD) and develop multifocal GISTs and multicentric paragangliomas (PGLs). We herein report a novel germline SDHB mutation (c.T282A-Ile44Asn) occurring in a 26 years-old patient diagnosed with a spindle cell intermediate risk GIST that did not present KIT/PDGFRA/BRAF gene mutations. Further analyses revealed loss of the wild-type SDHB allele and complete loss of SDHB expression in the tumor tissue. After genetic screening of other family members, we detected in the patient's mother a SDHB mutation without any clinical/laboratorial evidence of GIST or PGL. Altogether, our findings (germline SDHB mutation with absence of PGL in the index case and of GIST and/or PGL in his mother) raise the possibility that this familiar setting corresponds to an incomplete phenotype of the Carney-Stratakis dyad.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6