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Revista Española de Enfermedades Digestivas

Print version ISSN 1130-0108


DIAZ DELGADO, M. et al. Multiple non-metastatic gastrointestinal stromal tumors: Differential features. Rev. esp. enferm. dig. [online]. 2010, vol.102, n.8, pp.489-497. ISSN 1130-0108.

Introduction: gastrointestinal stromal tumors (GISTs) are specific, generally KIT (CD117)-positive, mesenchymal tumors of the digestive tract displaying KIT or PDGFRA gene mutations. Clinically, they tend to present as solitary tumors of the intestinal wall; more rarely, multiple tumors may occur in one or more organs. Objective: to review the morphological, immunohistochemical and molecular features of multiple, non-metastatic forms of GIST. Sources: review of the literature on Medline, and authors' own experience. Conclusions: multiples GISTs may occur in three different contexts: as spontaneous lesions (in both adults and children); due to familial GIST syndrome (autosomal dominant inheritance); or in association with specific syndromes (e.g. Carney's triad, Carney-Stratakis syndrome, type I neurofibromatosis). Outside these contexts, the existence of multiple GISTs is deemed to be the result of tumor metastasis, and therefore indicative of advanced-stage disease. Clinicians need to be aware of these variants, whose prognosis and treatment differ.

Keywords : Gastrointestinal stromal tumors; GIST; Carney's triad; Carney-Stratakis syndrome; Type I neurofibromatosis; Familial GIST syndrome; Pediatric GIST.

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