Home LiteratureArticle Details
PMID: 42416402 Published · epublish English

Why precision oncology works: lessons from gastrointestinal stromal tumours.

Exploration of targeted anti-tumor therapy ·Vol. 7

Ho SYA, Tok AHS, Han HQMK, Samol J, Shelat VG

Abstract

Gastrointestinal stromal tumours (GISTs) are the clearest solid-tumour model of precision oncology because diagnosis, prognosis, and treatment are strongly shaped by molecular genotype. The discovery of activating mutations in KIT proto-oncogene receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor alpha (PDGFRA) transformed management by enabling genotype-directed use of tyrosine kinase inhibitors (TKIs) across localized and advanced disease. This review summarizes how molecular classification informs contemporary GIST care, from diagnostic work-up and risk stratification to neoadjuvant, adjuvant, and metastatic treatment planning. KIT exon 11 mutations generally predict sensitivity to standard-dose imatinib, whereas KIT exon 9 tumours may benefit from dose escalation. PDGFRA D842V confers primary resistance to imatinib but sensitivity to avapritinib, illustrating the clinical value of mutation-specific therapy. We also review KIT/PDGFRA-wild-type GISTs, including succinate dehydrogenase (SDH)-deficient, neurofibromin 1 (NF1)-associated, B-Raf proto-oncogene (BRAF)-mutant, and neurotrophic tyrosine receptor kinase (NTRK)-rearranged subtypes, where extended molecular testing is increasingly important. Surgery remains central in localized disease, but operative timing, extent of resection, and use of neoadjuvant therapy should be individualized according to tumour site, rupture risk, technical feasibility, and genotype. In advanced disease, sequential use of imatinib, sunitinib, regorafenib, ripretinib, and selected mutation-specific agents reflects evolving resistance biology and the need for ongoing molecular interpretation. Emerging tools such as broader genomic profiling and liquid biopsy may further refine treatment selection. GIST therefore demonstrates that precision oncology is most effective when molecular diagnostics, surgery, systemic therapy, and multidisciplinary decision-making are integrated across the full disease course.

Keywords
GIST KIT mutation PDGFRA mutation molecular classification targeted therapy treatment sequencing tyrosine kinase inhibitors
Article Info
Journal
Exploration of targeted anti-tumor therapy
Abbr.
Explor Target Antitumor Ther
ISSN
2692-3114
Language
English
Country/Region
United States
NLM ID
101770662
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com