Gastrointestinal stromal tumor in children

Abstract

Gastrointestinal stromal tumors (GIST) are the most frequent mesenchymal tumors in the digestive tract. Usually, they develop after the fourth decade of life and are particularly unusual in paediatric age.

The authors present the case of a 14-year old female patient admitted for symptomatic microcytic anemia. Upper gastrointestinal endoscopy showed a large gastric submucosal tumor. A diagnosis of GIST was made by histological and immunohistochemical (c-Kit) tests. Genetic assessment of c-Kit and PDGFRA mutations revealed the absence of both (wild-type tumor). The imagiologic staging showed peritumoral adenopathy and hepatic metastization. After surgical resection of the primitive tumor, imatinib therapy was started and later on replaced by sunitinib, due to disease progression. After 18 months of therapy with this drug the disease is stable but without regression.

When compared with GIST in adults, paediatric GISTs have multiple specificities. Based on the clinical case described below, the authors highlight these specific characteristics and their clinical implications.

Keywords: Gastrointestinal stromal tumor; Pediatrics; c-KIT

Paulo Freire a, Francisco Portela a, Bruno Graça b, Maria Augusta Cipriano c, Marta Urbano a, Emanuel Furtado d, Paula Lapa e, Gabriela Duque a, Paulo Andrade a, Carlos Sofia a,

a Serviço de Gastrenterologia, Hospitais da Universidade de Coimbra, Coimbra, Portugal
b Serviço de Imagiologia, Hospitais da Universidade de Coimbra, Coimbra, Portugal
c Serviço de Anatomia Patológica, Hospitais da Universidade de Coimbra, Coimbra, Portugal
d Serviço de Cirurgia II, Hospitais da Universidade de Coimbra, Coimbra, Portugal
e Serviço de Medicina Nuclear, Hospitais da Universidade de Coimbra, Coimbra, Portugal