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Gene | FGFR2 |
Variant | H167_N173del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 H167_N173del results in the deletion of seven amino acids in the Ig-like C2-type domain 2 of the Fgfr2 protein from amino acids 167 to 173 (UniProt.org). H167_N173del results in cell transformation (J Clin Oncol 38, 2020 (suppl 4; abstr 567), PMID: 33926920), anchorage-independent growth, constitutive activation of Fgfr2 kinase activity in culture, and tumor formation in an in vivo model (PMID: 33926920). |
Associated Drug Resistance |
Transcript | NM_000141.4 |
gDNA | chr10:g.121551396_121551416del21 |
cDNA | c.499_519del21 |
Protein | p.H167_N173del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144914.1 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121551396_121551416del21 | c.499_519del21 | p.H167_N173del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 H167_N173del | intrahepatic cholangiocarcinoma | predicted - sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Futibatinib (TAS-120) inhibited growth of an intrahepatic cholangiocarcinoma cell line expressing FGFR2 H167_N173del in culture (PMID: 33926920). | 33926920 |
FGFR2 H167_N173del | intrahepatic cholangiocarcinoma | predicted - sensitive | Debio 1347 | Case Reports/Case Series | Actionable | In a Phase I trial, Debio 1347 treatment led to 51% tumor reduction and a progression-free survival of 13 months in an intrahepatic cholangiocarcinoma patient harboring FGFR2 H167_N173del, which was consistent with inhibition of growth in an intrahepatic cholangiocarcinoma cell line expressing FGFR2 H167_N173del in culture (PMID: 33926920; NCT01948297). | 33926920 |
FGFR2 H167_N173del | intrahepatic cholangiocarcinoma | predicted - sensitive | Debio 1347 | Case Reports/Case Series | Actionable | In a clinical study, Debio 1347 treatment resulted in durable partial response of 11 months in 2 patients with intrahepatic cholangiocarcinoma harboring FGFR2 H167_N173del (J Clin Oncol 38, 2020 (suppl 4; abstr 567)). | detail... |
FGFR2 H167_N173del | marginal zone B-cell lymphoma | predicted - sensitive | Debio 1347 | Preclinical - Cell culture | Actionable | In a clinical case study, Debio 1347 treatment in a marginal zone lymphoma patient harboring FGFR2 H167_N173del, who had previously been treated with several lines of therapy, led to a partial response and 36% decrease in tumor burden associated with lymphadenopathy and lung and liver lesions at 16 weeks, with continued response after 7 months (PMID: 33926920). | 33926920 |
FGFR2 H167_N173del FGFR2 L617F | intrahepatic cholangiocarcinoma | predicted - resistant | Debio 1347 | Case Reports/Case Series | Actionable | In a clinical study, a patient with intrahepatic cholangiocarcinoma harboring FGFR2 H167_N173del developed resistance to Debio 1347 treatment after initial response, FGFR2 L617F was identified as an acquired mutation at disease progression (J Clin Oncol 38, 2020 (suppl 4; abstr 567)). | detail... |
FGFR2 H167_N173del FGFR2 L618F | intrahepatic cholangiocarcinoma | predicted - resistant | Debio 1347 | Case Reports/Case Series | Actionable | In a Phase I trial, an intrahepatic cholangioncarcinoma patient who progressed in Debio 1347 was found to have acquired FGFR2 L618F, and co-expression of FGFR2 H167_N173del and FGFR2 L618F an intrahepatic cholangiocarcinoma cell line led to a reduced response to Debio 1347 treatment compared to cells expressing wild-type FGFR2 in culture (PMID: 33926920). | 33926920 |
FGFR2 H167_N173del FGFR2 L618F | intrahepatic cholangiocarcinoma | predicted - sensitive | Futibatinib | Case Reports/Case Series | Actionable | In a Phase I trial, Futibatinib (TAS-120) treatment led to a partial response with 61% tumor reduction and response duration of 17 months in an intrahepatic cholangiocarcinoma patient harboring FGFR2 H167_N173del and FGFR2 L618F, which was consistent with inhibition of growth in an intrahepatic cholangiocarcinoma cell line expressing FGFR2 H167_N173del and FGFR2 L618F in culture (PMID: 33926920). | 33926920 |
BRAF L597Q FGFR2 H167_N173del FGFR2 L618F | intrahepatic cholangiocarcinoma | predicted - resistant | Futibatinib | Case Reports/Case Series | Actionable | In a clinical case study, acquisition of BRAF L597Q was identified in an intrahepatic cholangiocarcinoma patient harboring FGFR2 H167_N173del and FGFR2 L618F who developed resistance to treatment with Futibatinib (TAS-120) (PMID: 33926920). | 33926920 |
BRAF L597Q FGFR2 H167_N173del FGFR2 L618F | intrahepatic cholangiocarcinoma | no benefit | LY3214996 | Case Reports/Case Series | Actionable | In a clinical case study, LY3214996 treatment led to progressive disease after 2 months in an intrahepatic cholangiocarcinoma patient harboring BRAF L597Q, FGFR2 H167_N173del, and FGFR2 L618F (PMID: 33926920). | 33926920 |
BRAF L597Q FGFR2 H167_N173del FGFR2 N550K FGFR2 L618F NRAS Q61K | intrahepatic cholangiocarcinoma | predicted - resistant | LY3214996 | Case Reports/Case Series | Actionable | In a clinical case study, acquired NRAS Q61K and FGFR2 N550K mutations were identified following progression on LY3214996 in an intrahepatic cholangiocarcinoma patient harboring BRAF L597Q, FGFR2 H167_N173del, and FGFR2 L618F (PMID: 33926920). | 33926920 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 H167_N173del | gain of function | |
FGFR2 H167_N173del FGFR2 L617F | ||
FGFR2 H167_N173del FGFR2 L618F | ||
BRAF L597Q FGFR2 H167_N173del FGFR2 L618F | ||
BRAF L597Q FGFR2 H167_N173del FGFR2 N550K FGFR2 L618F NRAS Q61K |