C -kit en tumores estromales gastrointestinales y neoplasias asociadas: estudio en población con aislamiento genético / C-KIT in gastrointestinal stromal tumors and associated malignancies: A Study in a population with genetic isolation

INTRODUCCIÓN: Los tumores estromales gastrointestinales (GIST) son los tumores mesenquimales más frecuentes del tracto gastrointestinal. Han surgido numerosas publicaciones de GIST asociados con otras neoplasias. OBJETIVOS: El objetivo de este estudio fue investigar esta posible asociación en una población aislada genéticamente. MÉTODOS: Se realizó un estudio retrospectivo de pacientes con GIST en nuestro centro entre los años 2002-2009. Se compararon datos epidemiológicos, patológicos y familiares de pacientes con GIST sin neoplasias asociadas (grupo A) frente a pacientes con GIST y neoplasias asociadas (grupo B). Se investigó un posible mecanismo genético común entre GIST y las neoplasias asociadas mediante la detección, en todos los tumores, por el marcador inmunohistoquímico CD117. RESULTADOS: Se hallaron 22 pacientes con GIST, 10 del grupo A (45%) y 12 del grupo B (55%). En el grupo B, el tumor asociado fue maligno en 6 pacientes (50%) y benigno en otros 6 (50%). De 22 pacientes con GIST, 8 (36%) presentaron antecedentes familiares de neoplasia maligna. De estos 8 pacientes, 7 eran (87,5%) del grupo B (p = 0,03) y en 3 (37,5%) coincidieron el tipo anatomopatológico de neoplasia padecida por el paciente y su familiar. No hubo GIST en ningún familiar. Todos los GIST mostraron positividad para el CD117, mientras que las neoplasias asociadas fueron negativas para este marcador. CONCLUSIONES: No se ha demostrado positividad inmunohistoquímica para CD117 en las neoplasias asociadas. Dadas las especiales características de la población a estudio, la relación entre GIST y las neoplasias asociadas posiblemente sea casual

INTRODUCTION: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. Numerous studies have reported the association between GIST and other neoplasms. OBJECTIVES: The aim of this study was to investigate the possible association between GIST and other tumors in a genetically isolated population. METHODS: A retrospective study was conducted of patients with GIST between 2002 and 2009 at our center. Epidemiological, pathological and family data in patients with GIST alone (group A) were compared with those in patients with GIST associated with other neoplasms (group B). A possible common genetic mechanism was investigated between GIST and associated malignancies by testing the detection of the immunohistochemical marker, CD117, in all tumors. RESULTS: Twenty-two patients with GIST were identified, 10 in group A (45%) and 12 in group B (55%). In group B, the associated tumor was malignant in 6 patients (50%) and benign in another 6 (50%). Of the 22 patients with GIST, 8 (36%) had a family history of malignancies. Of these 8 patients, 7 (87.5%) were in group B (p = 0.03) and 3 (37.5%) showed the same pathological type of neoplasm as their relatives. All GIST were positive for CD117 whereas associated malignancies were negative for this marker. CONCLUSION: We did not find immunohistochemical positivity for CD117 in malignancies associated with GIST. Given the special characteristics of the study population, the association between GIST and associated malignancies may be incidental

[C-KIT in gastrointestinal stromal tumors and associated malignancies: A Study in a population with genetic isolation]. / C-kit en tumores estromales gastrointestinales y neoplasias asociadas: estudio en población con aislamiento genético.

INTRODUCTION: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. Numerous studies have reported the association between GIST and other neoplasms. OBJECTIVES: The aim of this study was to investigate the possible association between GIST and other tumors in a genetically isolated population. METHODS: A retrospective study was conducted of patients with GIST between 2002 and 2009 at our center. Epidemiological, pathological and family data in patients with GIST alone (group A) were compared with those in patients with GIST associated with other neoplasms (group B). A possible common genetic mechanism was investigated between GIST and associated malignancies by testing the detection of the immunohistochemical marker, CD117, in all tumors. RESULTS: Twenty-two patients with GIST were identified, 10 in group A (45%) and 12 in group B (55%). In group B, the associated tumor was malignant in 6 patients (50%) and benign in another 6 (50%). Of the 22 patients with GIST, 8 (36%) had a family history of malignancies. Of these 8 patients, 7 (87.5%) were in group B (p=0.03) and 3 (37.5%) showed the same pathological type of neoplasm as their relatives. All GIST were positive for CD117 whereas associated malignancies were negative for this marker. CONCLUSION: We did not find immunohistochemical positivity for CD117 in malignancies associated with GIST. Given the special characteristics of the study population, the association between GIST and associated malignancies may be incidental.