Tumores del estroma gastrointestinal múltiples no metastásicos. Aspectos diferenciales / Multiple non-metastatic gastrointestinal stromal tumors. Differential features

Introducción: los tumores del estroma gastrointestinal (GIST)son neoplasias mesenquimales del tubo digestivo que generalmenteexpresan el receptor KIT (CD117) y muestran mutaciones enlos genes KIT o PDGFRA. Aunque la forma de presentación clínicahabitual es como una neoplasia mural solitaria, excepcionalmentepueden presentarse formas múltiples en el mismo o diferenteórgano.Objetivo: revisar las características morfológicas, inmunohistoquímicasy moleculares de las formas de GIST múltiples no metastásicos.Fuentes: revisión de la literatura en Medline y la propia experiencia.Conclusiones: los GIST múltiples pueden presentarse en trescontextos diferentes: lesiones espontáneas (del adulto o de la edadinfantil); síndrome familiar propio (transmitido con herencia autosómicadominante); y lesiones asociadas a síndromes específicos(tríada de Carney, síndrome de Carney-Stratakis, y neurofibromatosistipo I). Fuera de estos ámbitos, se interpreta que todo GISTmúltiple es el resultado de siembras tumorales metastásicas y, portanto, corresponde a enfermedad avanzada. Estas variantes debenser conocidas por el clínico dado las connotaciones pronósticas yterapéuticas que ello conlleva(AU)

Introduction: gastrointestinal stromal tumors (GISTs) are specific,generally KIT (CD117)-positive, mesenchymal tumors of thedigestive 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, immunohistochemicaland molecular features of multiple, non-metastatic forms ofGIST.Sources: review of the literature on Medline, and authors’own experience.Conclusions: multiples GISTs may occur in three differentcontexts: as spontaneous lesions (in both adults and children); dueto familial GIST syndrome (autosomal dominant inheritance); orin association with specific syndromes (e.g. Carney’s triad, Carney-Stratakis syndrome, type I neurofibromatosis). Outside thesecontexts, the existence of multiple GISTs is deemed to be the resultof tumor metastasis, and therefore indicative of advanced-stagedisease. Clinicians need to be aware of these variants, whoseprognosis and treatment differ(AU)

Multiple non-metastatic gastrointestinal stromal tumors. Differential features.

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.