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

• Type: Article in International Scientific Journal
• Date: 2012

Authors

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

Journal

Title: Familial Cancer

Vol. 11

Pages: 189-194

ISSN: 1389-9600

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 16 Citations

Scopus - 18 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6