Recent Progress and Challenges in the Diagnosis and Treatment of Gastrointestinal Stromal Tumors

• Main Authors: Toshirou Nishida, Shigetaka Yoshinaga, Tsuyoshi Takahashi, Yoichi Naito
• Format: Article
• Language: English
• Published: MDPI AG 2021-06-01
• Series: Cancers
• Subjects: gastrointestinal stromal tumor; submucosal tumor; subepithelial tumor; gene panel analysis; precision medicine
• Online Access: https://www.mdpi.com/2072-6694/13/13/3158

Gastrointestinal stromal tumors (GISTs) are the most frequent malignant mesenchymal tumors in the gastrointestinal tract. The clinical incidence of GISTs is estimated 10/million/year; however, the true incidence is complicated by frequent findings of tiny GISTs, of which the natural history is unknown. The initial work-up with endoscopy and endoscopic ultrasonography plays important roles in the differential diagnosis of GISTs. Surgery is the only modality for the permanent cure of localized GISTs. In terms of safety and prognostic outcomes, laparoscopy is similar to laparotomy for GIST treatment, including tumors larger than 5 cm. GIST progression is driven by mutations in <i>KIT</i> or <i>PDGFRA</i> or by other rare gene alterations, all of which are mutually exclusive. Tyrosine kinase inhibitors (TKIs) are the standard therapy for metastatic/recurrent GISTs. Molecular alterations are the most reliable biomarkers for TKIs and for other drugs, such as NTRK inhibitors. The pathological and genetic diagnosis prior to treatment has been challenging; however, a newly developed endoscopic device may be useful for diagnosis. In the era of precision medicine, cancer genome profiling by targeted gene panel analysis may enable potential targeted therapy even for GISTs without <i>KIT</i> or <i>PDGFRA</i> mutations.