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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Journal of Clinical Oncology, 2024.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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42(3_suppl): p. 748-748.This reference is of outstanding importance because it reports that ripretinib has the similar effcicay with sunitinib as a second line therapy drug for GIST patients after imatinib failure.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Ripretinib has better safety profile than sunitinib.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference is of outstanding importance because it reports that ripretinib has the similar effcicay with sunitinib as a second line therapy drug for GIST patients after imatinib failure.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Ripretinib has better safety profile than sunitinib.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Zhou, Y., et al., Activity of Anlotinib in the Second-Line Therapy of Metastatic Gastrointestinal Stromal Tumors: A Prospective, Multicenter, In Vitro Study.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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The Oncologist, 2023.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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28(4): p. e191-e197.This reference is of outstanding importance because it reports that anlotinib is a promising drug for GIST patients after imatinib failure.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference also implies that anlotinib may have similar efficacy to sunitinib.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Providing evidence that the development of new TKIs to overcome primary and secondary mutants is possible.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference is of outstanding importance because it reports that anlotinib is a promising drug for GIST patients after imatinib failure.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
This reference also implies that anlotinib may have similar efficacy to sunitinib.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
Providing evidence that the development of new TKIs to overcome primary and secondary mutants is possible.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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George, S., et al., Initial results from the phase (ph) 1 portion of a ph 1/2 study of THE-630 in patients (pts) with advanced gastrointestinal stromal tumor (GIST).
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Journal of Clinical Oncology, 2023.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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41(16_suppl): p. e23508-e23508.This reference is of outstanding importance because it reports that THE-630 is a promising drug for GIST patients after imatinib failure and ≥1 TKI treatment.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Providing evidence that the development of new TKI to overcome primary and secondary mutants is possible.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference is of outstanding importance because it reports that THE-630 is a promising drug for GIST patients after imatinib failure and ≥1 TKI treatment.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
Providing evidence that the development of new TKI to overcome primary and secondary mutants is possible.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Li, J., et al., Phase 1 study of NB003, a broad-spectrum KIT/PDGFRα inhibitor, in patients with advanced gastrointestinal stromal tumors (GIST).
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Journal of Clinical Oncology, 2024.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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42(16_suppl): p. 11518-11518.This reference is of importance because it reports that NB003 is a promising drug for GIST patients after imatinib failure.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
Providing evidence that the development of new TKIs to overcome primary and secondary mutants is possible.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
This reference is of importance because it reports that NB003 is a promising drug for GIST patients after imatinib failure.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
Providing evidence that the development of new TKIs to overcome primary and secondary mutants is possible.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Qiu, H., et al., Promising antitumor activity of olverembatinib (HQP1351) in patients (pts) with tyrosine kinase inhibitor- (TKI-) resistant succinate dehydrogenase- (SDH-) deficient gastrointestinal stromal tumor (GIST).
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Journal of Clinical Oncology, 2022.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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40(16_suppl): p. 11513-11513.This reference is of importance because it reports that olverembatinib is a promising drug for SDH-deficient GIST patients.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Providing evidence that the development of new TKI to treat this subtype of wild-type GIST patients is possible.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
This reference is of importance because it reports that olverembatinib is a promising drug for SDH-deficient GIST patients.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
Providing evidence that the development of new TKI to treat this subtype of wild-type GIST patients is possible.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Kurokawa, Y., et al., Pimitespib in patients with advanced gastrointestinal stromal tumor (CHAPTER-GIST-301): a randomized, double-blind, placebo-controlled phase III trial.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Annals of Oncology, 2022.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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33(9): p. 959-967.This reference is of importance because it reports that pimitespib is a promising drug for advanced GIST patients.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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The target of pimitespib is not the traditional KIT/PDGFRA mutants, it targets HSP90.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Providing evidence that development of new drug targeting non-authentic targets could help overcome drug resistance in advanced GIST patients.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference is of importance because it reports that pimitespib is a promising drug for advanced GIST patients.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
The target of pimitespib is not the traditional KIT/PDGFRA mutants, it targets HSP90.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
Providing evidence that development of new drug targeting non-authentic targets could help overcome drug resistance in advanced GIST patients.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Serrano, C., et al., 1489MO A phase Ib/II study of selinexor as single agent and in combination with imatinib in patients with advanced gastrointestinal stromal tumor (GIST): SeliGIST/GEIS-41 trial.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Annals of Oncology, 2022.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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33: p. S1228.This reference is of importance because it reports that selinexor is a promising drug for advanced GIST patients.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Unlike traditional KIT/PDGFRA mutant targets, selinexor targets the XPO1-mediated nuclear export of RNA.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Providing evidence that development of new drug targeting non-authentic targets is possible to overcome drug resistance in advanced GIST patients.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference is of importance because it reports that selinexor is a promising drug for advanced GIST patients.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Unlike traditional KIT/PDGFRA mutant targets, selinexor targets the XPO1-mediated nuclear export of RNA.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
|
Providing evidence that development of new drug targeting non-authentic targets is possible to overcome drug resistance in advanced GIST patients.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Ligon, J.A., et al., A Phase II Trial of Guadecitabine in Children and Adults with SDH-Deficient GIST, Pheochromocytoma, Paraganglioma, and HLRCC-Associated Renal Cell Carcinoma.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Clinical Cancer Research, 2023.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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29(2): p. 341-348.This reference is of importance because it reports that guadecitabine does not achive target response rate in SDH-deficient GIST patients.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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However, it provides preliminary result of targeting the hypermethylation process in SDH-deficient GIST.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference is of importance because it reports that guadecitabine does not achive target response rate in SDH-deficient GIST patients.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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However, it provides preliminary result of targeting the hypermethylation process in SDH-deficient GIST.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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George, S., et al., A Phase I, Multicenter, Open-Label, First-in-Human Study of DS-6157a in Patients with Advanced Gastrointestinal Stromal Tumor.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Clin Cancer Res, 2023.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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29(18): p. 3659-3667.This reference is of importance because it reports that antibody drug conjugate (DS-6157a) is a possible drug for wild-type GIST patients which are resistance to TKI therapy.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Providing evidence that antibody-drug conjugate is a possible drug format to overcome drug resistance for advanced GIST patients.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference is of importance because it reports that antibody drug conjugate (DS-6157a) is a possible drug for wild-type GIST patients which are resistance to TKI therapy.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Providing evidence that antibody-drug conjugate is a possible drug format to overcome drug resistance for advanced GIST patients.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Liao, Y., et al., The association between fasting blood glucose and prognosis in gastrointestinal stromal tumor patients after curable resection.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Updates in Surgery, 2023.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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75(5): p. 1219-1226.This reference is of importance because it reports that lower blood glucose concentration is beneficial for improving the therapy outcome.
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PMC11541409
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Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Signifying that linking the TKI therapy with inhibiting metabolism is possible to improve drug efficacy, overcome drug resistance.
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PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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This reference is of importance because it reports that lower blood glucose concentration is beneficial for improving the therapy outcome.
|
PMC11541409
|
Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.
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Signifying that linking the TKI therapy with inhibiting metabolism is possible to improve drug efficacy, overcome drug resistance.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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POPDC2 encodes the Popeye domain-containing protein 2, which has an important role in cardiac pacemaking and conduction, due in part to its cyclic AMP (cAMP)-dependent binding and regulation of TREK-1 potassium channels.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Loss of Popdc2 in mice results in sinus pauses and bradycardia, and morpholino-mediated knockdown of popdc2 in zebrafish results in atrioventricular (AV) block.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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We identified bi-allelic variants in POPDC2 in four families with a phenotypic spectrum consisting of sinus node dysfunction, AV conduction defects, and hypertrophic cardiomyopathy.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Using homology modeling, we show that the identified variants are predicted to diminish the ability of POPDC2 to bind cAMP.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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In in vitro electrophysiological studies, we demonstrated that, in contrast with wild-type POPDC2, variants found in affected individuals failed to increase TREK-1 current density.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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While muscle biopsy of an affected individual did not show clear myopathic disease, it showed significantly reduced abundance of both POPDC1 and POPDC2, suggesting that stability and/or membrane trafficking of the POPDC1-POPDC2 complex is impaired by pathogenic variants in either protein.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Single-cell RNA sequencing from human hearts demonstrated that co-expression of POPDC1 and POPDC2 was most prevalent in AV node, AV node pacemaker, and AV bundle cells.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Using population-level genetic data of more than 1 million individuals, we show that none of the familial variants were associated with clinical outcomes in heterozygous state, suggesting that heterozygous family members are unlikely to develop clinical manifestations and therefore might not necessitate clinical follow-up.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Our findings provide evidence for bi-allelic variants in POPDC2 causing a Mendelian autosomal recessive cardiac syndrome.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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The rhythmic contraction of the heart is orchestrated by the cardiac pacemaker and conduction system.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Electrical activity in the heart arises in the sinus node, located in the right atrium near the entrance of the superior vena cava.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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The electrical impulse then spreads through the atria to the atrioventricular (AV) node and is subsequently propagated through the bundle of His and bundle branches to the Purkinje fibers from where it spreads throughout the ventricles.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Cardiac conduction defects (CCDs; MIM: 115080) are primarily the consequence of age-related degeneration, structural heart disease, or post-operative complications.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Presentation of CCDs in the young should raise suspicion of a genetic disorder.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Rare variants in genes encoding cardiac ion channels (e.g., SCN5A, MIM: 600163; TRPM4, MIM: 606936; and HCN4, MIM: 605206), transcription factors (e.g., TBX5, MIM:601620; NKX2-5, MIM: 600584), constituents of the inner nuclear membrane (e.g., LMNA, MIM: 150330; EMD, MIM: 300384), gap junction proteins (e.g., GJC1, MIM: 608655), and others (e.g., GNB5, MIM: 604447; TNNI3K, MIM: 613932; PRKAG2, MIM: 602743) have been implicated in inherited CCD presenting in isolation or in presence of other cardiac or extracardiac features.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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However, many affected individuals with early-onset CCD remain genetically unexplained.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Bi-allelic variants in POPDC1 (also known as BVES, MIM: 604577), encoding the Popeye domain-containing protein 1, are associated with muscular dystrophy and AV block (MIM: 604577).
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
In mice, knockout of Popdc1 or Popdc2 resulted in stress-induced sinus pauses and sinus bradycardia.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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In zebrafish, morpholino knockdown of popdc1 or popdc2 resulted in second-degree AV block and bradycardia.
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PMC12256823
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
The TWIK-related potassium channel 1 (TREK-1, encoded by KCNK2; MIM: 603219) is an established interacting protein of POPDC2 (MIM: 605823) and co-expression of POPDC2 and TREK-1 has been shown to result in a 2-fold higher TREK-1 current in comparison to expression of TREK-1 alone.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Here, we provide evidence for bi-allelic loss-of-function (LOF) variants in POPDC2 as the cause of an autosomal recessive syndrome in four families, consisting of a phenotypic spectrum including sinus node disease and AV conduction defects with hypertrophic cardiomyopathy (HCM; MIM: 192600).
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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Family A was referred to the Department of Human Genetics of the Amsterdam UMC (Amsterdam, the Netherlands) for genetic testing and counseling for CCD and HCM.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
To follow up on the findings from exome sequencing in this family, we studied 78 individuals that were diagnosed with a similar clinical presentation to family A (i.e., CCDs and HCM, cohorts 1–3).
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
In addition, we studied 96 HCM individuals without CCDs (cohort 4).
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
In all 174 individuals, genetic testing had ruled out causative variants in established arrhythmia and/or cardiomyopathy genes.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
Families C and D were identified via a genetic and phenotypic match through DECIPHER and GeneMatcher, respectively.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
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The study protocol was approved by the Amsterdam University Medical Center Research Ethics Committee and the local Institutional Review Boards of contributing centers.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
Signed informed consent was obtained from the affected individuals or their parents.
|
PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
Details on case recruitment and DNA-sequencing methods for each family can be found in the supplemental information and Table S1.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
To ensure the privacy of the affected individuals and their families, (1) ages are presented as non-overlapping age ranges (i.e., 0–5, 6–10, and 11–15 years), (2) pedigrees were modified, (3) information related to ancestry/country or origin/nationality are not reported, and (4) clinical descriptions were minimized.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
The censoring undertaken for privacy reasons does not affect the ability to evaluate the presented data.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
Sex was not considered as a biological variable.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
Two homology models were generated using either SWISS-MODEL or AlphaFold2 Multimer.
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PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
The SWISS-MODEL web server used a cyclic AMP (cAMP)-regulatory protein from Yersinia pestis (6DT4) as a template to generate the homology model for the Popeye domain of POPDC2.
|
PMC12256823
|
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
|
A dimer of full-length POPDC2 was generated using AlphaFold Multimer, and the intrinsically disordered C-terminal residues 275–364 were deleted to simplify figure presentation.
|
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