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Acta gastroenterol. latinoam ; 44(1): 9-15, 2014 Mar.
Artículo en Español | LILACS, BINACIS | ID: biblio-1157430

RESUMEN

Gastrointestinal stromal tumors (GIST) are the most common mesenchymatous neoplasms of the human digestive tract. They locate preferentially in stomach, duodenum or small bowel. Usually sporadic, familial cases unrelated to neurofibromatosis may be due to germline mutations in KIT or PDGFRA. We describe the first Argentine family with GIST in which we found, diffuse cutaneous melanosis, lentiginosis, and dysphagia. Dysphagia was not observed in the four families previously described with the same mutation. Histopathology resulted consistent with GIST, and tumor immunohistochemistry was likewise positive for DOG-1, CD117 (KIT) and CD34. The search for germline mutations identified the KIT c.1697T > C (p.559V > A) substitution in exon 11. Treatment with imatinib is furnishing positive results.


Asunto(s)
Melanosis/genética , Mutación de Línea Germinal/genética , Proteínas Proto-Oncogénicas c-kit/genética , Trastornos de Deglución/genética , Tumores del Estroma Gastrointestinal/genética , Adolescente , Adulto , Niño , Femenino , Humanos , Inmunohistoquímica , Linaje , Masculino , Melanosis/diagnóstico , Persona de Mediana Edad , Trastornos de Deglución/diagnóstico , Tumores del Estroma Gastrointestinal/diagnóstico
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