Characteristics and therapeutic strategies for familial gastrointestinal stromal tumors

Abstract

This editorial discusses Wang et al's article on familial gastrointestinal stromal tumors (GISTs). We read with great interest this article concerning the diagnosis, treatment, and post-treatment management of patients with familial GISTs. The actual incidence of GISTs may be underestimated due to diagnostic limitations and the long-term low-risk behavior of some GISTs. The molecular landscape of GISTs is primarily driven by mutations in the KIT and platelet-derived growth factor receptor alpha (PDGFRA) genes. A subset of GISTs without these mutations known as wild-type GISTs, may harbor other rare mutations, impacting their response to targeted therapies. Clinically, patients with GISTs present with non-specific symptoms, often leading to delayed diagnosis. Genetic predispositions in familial GISTs provide insights into the genetic architecture and extragastrointestinal manifestations of GISTs. Management has evolved from surgical interventions to molecular-based therapies using tyrosine kinase inhibitors. The management of GISTs, especially in familial cases, requires a multidisciplinary approach. Cases of different gene mutations were reported in the same family, suggesting that incorporating genetic testing into routine clinical practice is crucial for the early identification of high-risk individuals and the implementation of tailored surveillance programs.

Keywords: Gastrointestinal stromal tumors; KIT mutation; Platelet-derived growth factor receptor alpha mutation; Wild-type gastrointestinal stromal tumor; Tyrosine kinase inhibitors; Familial gastrointestinal stromal tumor syndromes; Molecular characteristics; Targeted therapy

Core Tip: The management of familial gastrointestinal stromal tumors (GISTs) depends on the conduct of genetic surveillance, with early screening for first-degree relatives being essential. Current treatment strategies are essentially the same as those used for sporadic GISTs, primarily consisting of surgery and tyrosine kinase inhibitor targeted therapy. For familial GISTs, additional experience and evidence are required for treatment, prognosis, and monitoring; therefore, it is advisable to adopt more proactive therapeutic and follow-up strategies.