1. Pediatric gastrointestinal stromal tumor: Report of two novel patients harboring germline variants in SDHB and SDHC genes
- Author
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Alessandro Crocoli, Emanuele Agolini, Martina Rinelli, Angela Di Giannatale, Pier Luigi Di Paolo, Rita De Vito, Giuseppe Milano, Antonio Novelli, and Ida Russo
- Subjects
Male ,SDH complex deficiency ,Cancer Research ,Adolescent ,Gastrointestinal Stromal Tumors ,SDHB ,Biopsy ,DNA Mutational Analysis ,Cancer predisposition syndrome ,Gastrointestinal stromal tumors ,SDH genes ,Succinate dehydrogenase ,PDGFRA ,Biology ,Germline ,03 medical and health sciences ,0302 clinical medicine ,Germline mutation ,Loss of Function Mutation ,Paraganglioma ,Positron Emission Tomography Computed Tomography ,Genetics ,medicine ,Humans ,Stromal tumor ,neoplasms ,Molecular Biology ,Germ-Line Mutation ,Gastrointestinal Neoplasms ,Gastrointestinal tract ,GiST ,Liver Neoplasms ,Stomach ,Membrane Proteins ,medicine.disease ,digestive system diseases ,Pedigree ,Succinate Dehydrogenase ,Liver ,Lymphatic Metastasis ,030220 oncology & carcinogenesis ,Cancer research ,Female - Abstract
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and rarely occur in pediatric patients. 85% of pediatric GISTs and 15% of adult GISTs lack of KIT or PDGFRA mutations. 40% of these “wild-type” GISTs present loss of function mutations in genes encoding for the subunits of the succinate dehydrogenase (SDH) complex. Germline mutations in SDH complex genes have been described in patients with the Carney–Stratakis syndrome (CSS), a rare inherited condition that predisposes to GIST and paraganglioma. We report two pediatric patients with multifocal GIST, harboring respectively a novel and a previously reported loss-of-function germline variant, in SDHC and SDHB genes.
- Published
- 2020
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