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Ref Type

PMID

(34250399)

Authors

Farouk Sait S, Gilheeney SW, Bale TA, Haque S, Dinkin MJ, Vitolano S, Rosenblum MK, Ibanez K, Prince DE, Spatz KH, Dunkel IJ, Karajannis MA

Title

Debio1347, an Oral FGFR Inhibitor: Results From a Single-Center Study in Pediatric Patients With Recurrent or Refractory FGFR-Altered Gliomas.

Journal	Vol	Issue	Date	Pages	Journal Short Title
JCO precision oncology	5		2021		JCO Precis Oncol

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Gene	Variant	Impact	Protein Effect	Variant Description	Associated with drug Resistance
FGFR1	V592M	missense	unknown	FGFR1 V592M (corresponds to V561M in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V592M has been identified in the scientific literature (PMID: 34250399), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).
FGFR1	K687E	missense	unknown	FGFR1 K687E (corresponds to K656E in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K687E has been identified in the scientific literature (PMID: 32622884, PMID: 34250399, PMID: 35952322), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).
FGFR1	E765G	missense	unknown	FGFR1 E765G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). E765G has been identified in the scientific literature (PMID: 34250399), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).

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Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
FGFR1 V592M FGFR1 K687E	glioblastoma	predicted - sensitive	Zoligratinib	Case Reports/Case Series	Actionable	In a clinical case study, Debio 1347 treatment resulted in a near complete response with a 96.3% maximal tumor reduction after 2 months of therapy in a pediatric patient with spinal cord glioblastoma harboring FGFR1 V592M and FGFR1 K687E, and the response was maintained for 11 months (PMID: 34250399).	34250399
FGFR1 V592M FGFR1 K687E	pilomyxoid astrocytoma	predicted - sensitive	Zoligratinib	Case Reports/Case Series	Actionable	In a clinical case study, Debio 1347 treatment resulted in a significant clinical improvement and sustained stable disease at 14 months with a 12.2% maximal tumor reduction in a pediatric patient with optic pathway pilomyxoid astrocytoma harboring FGFR1 V592M and FGFR1 K687E (PMID: 34250399).	34250399

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