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Ref Type Journal Article
PMID (35982969)
Authors Cao Y, Zhang X, Chen Q, Rao X, Qiu E, Wu G, Lin Y, Zeng Z, Zheng B, Li Z, Cai Z, Wang H, Han S
Title Patient-Derived Organoid Facilitating Personalized Medicine in Gastrointestinal Stromal Tumor With Liver Metastasis: A Case Report.
Journal Vol Issue Date Pages Journal Short Title
Frontiers in oncology 12 2022 920762 Front Oncol
URL
Abstract Text The gastrointestinal stromal tumors (GIST) are a rare gastrointestinal tract malignancy. The two primary mutation sites are found in KIT and platelet-derived growth factor receptor-α (PDGFR-α) genes. The current study reports on a point mutation within the exon 11 of KIT, named KIT p.V560E. Patient-derived organoids (PDOs) are potential 3D in vitro models of tissues that can be used to identify sensitivity toward specific targets in patients with tumors and allow for personalized medicine when drugs specific for newly identified genetic locus mutations are not yet available. This study describes a 68-year-old patient who complained of diffused abdominal pain and intermittent melena lasting more than 10 days. He has no other gastrointestinal abnormalities, prior abdominal surgery, or related family history. Surgery was conducted first to remove the lesions and ascertain the disease through histology and immunohistochemical stains of the mass. Immunohistochemistry revealed that the tumor was positive for CD117 and Dog-1. Based on the above findings, he was diagnosed with GISTs. Gene detection analysis and organoid culture were then performed to verify clinical decisions. KIT p.V560E and the reduced number of RB1 copies were identified as two obvious mutations, so the patient was administrated first-line treatment of imatinib 400 mg/d. However, progressive disease prompted us to switch to sunitinib, and his condition gradually improved. Meanwhile, organoid culture showed sensitivity to sunitinib and tolerance to imatinib with half-maximal inhibitory concentration (IC50) values of 0.89 and >20, respectively. In summary, to the best of our knowledge, this is the first time that the established organoid culture indicated that the GISTs organoid could identify the sensitivity to target therapies and facilitate individual-based treatment.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
KIT V560E missense unknown KIT V560E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V560E has been identified in the scientific literature (PMID: 25695690, PMID: 34250403, PMID: 35982969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V560E gastrointestinal stromal tumor conflicting Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V560E was resistant to Gleevec (imatinib) treatment, and in a preclinical study, a patient-derived organoid model was resistant to Gleevec (imatinib) treatment in culture (PMID: 35982969). 35982969
KIT V560E gastrointestinal stromal tumor predicted - sensitive Sunitinib Case Reports/Case Series Actionable In a clinical case study, Sutent (sunitinib) treatment resulted in a partial response and symptom improvement in a patient with gastrointestinal stromal tumor harboring KIT V560E, and in a preclinical study, Sutent (sunitinib) treatment decreased viability of the patient-derived organoid in culture (PMID: 35982969). 35982969