Molecular Profile Detail

Profile Name ETV6-FGFR4
Gene Variant Detail

ETV6 ETV6 - FGFR4 (gain of function)

Relevant Treatment Approaches

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6-RUNX1 acute lymphocytic leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, the ETV6-RUNX1 fusion was associated with a favorable prognosis in acute lymphocytic leukemia patients (PMID: 8609706, PMID: 10086740, PMID: 11432885, Guidelines). 11432885 detail... 8609706 10086740
ETV6-RUNX1 acute lymphocytic leukemia not applicable N/A Clinical Study Diagnostic ETV6-RUNX1 is used in the diagnosis of acute lymphocytic leukemia (PMID: 26711002, PMID: 15704129, PMID: 8609706, Guidelines). 15704129 8609706 detail... 26711002
ETV6-JAK2 hematologic cancer sensitive NS-108 Preclinical - Cell culture Actionable In a preclinical study, cells expressing ETV6-JAK2 were sensitive to treatment with NS-108, demonstrating inhibition of cell growth in culture (PMID: 22829185). 22829185
ETV6 - JAK2 JAK2 Y918H hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the Y918H mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6 - JAK2 JAK2 P1057S hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the P1057S mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6 - JAK2 JAK2 E864K hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the E864K mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6-JAK2 JAK2 R975G hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the R975G mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6-JAK2 JAK2 N909K hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the N909K mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6 - JAK2 JAK2 M929I hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the M929I mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6 - JAK2 JAK2 G935R hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the G935R mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6-JAK2 JAK2 V881A hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the V881A mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6 - JAK2 JAK2 G831R hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the G831R mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6 - JAK2 JAK2 R1127K hematologic cancer resistant Pyridone 6 Preclinical Actionable In a preclinical study, immune cells expressing ETV6-JAK2 with the R1127K mutation demonstrated resistance to Pyridone 6 (CMP6) in culture (PMID: 22916261). 22916261
ETV6-NTRK1 Advanced Solid Tumor predicted - sensitive Entrectinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ETV6-NTRK1 were sensitive to Entrectinib (RXDX-101) as demonstrated by reduced proliferation relative to cells expressing an empty vector in culture (PMID: 26884591). 26884591
ETV6 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ETV6 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
ETV6 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, ETV6 mutations were associated with a shorter overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 21877899, PMID: 26769228). 21877899 26769228 21714648
ETV6-FGFR4 Advanced Solid Tumor sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, treatment with AZD4547 decreased Myc expression and inhibited growth of transformed cells expressing ETV6-FGFR4 (TEL-FGFR4) in culture (PMID: 27401245). 27401245
ETV6 inact mut acute lymphocytic leukemia not applicable N/A Clinical Study Risk Factor In multiple clinical studies, ETV6 inactivating germline mutations were shown to be a risk factor for the development of acute lymphocytic leukemia (PMID: 26522332, PMID: 26102509, PMID: 25807284). 25807284 26102509 26522332
ETV6-ABL1 chronic myeloid leukemia predicted - sensitive Nilotinib Clinical Study Actionable In a clinical case study, Tasigna (nilotinib) treatment resulted in a complete haematological response after 4 weeks of treatment and sustained complete cytogenetic response and major molecular response at 22 months from diagnosis in a patient with chronic myeloid leukemia harboring ETV6-ABL1, whose disease progressed while on Gleevec (imatinib mesylate) at 6 months from diagnosis (PMID: 24053143). 24053143
ETV6-ABL1 chronic myeloid leukemia predicted - resistant Imatinib Clinical Study Actionable In a clinical case study, a patient with chronic myeloid leukemia harboring ETV6-ABL1 achieved a complete haematological response after 4 weeks of Gleevec (imatinib mesylate) treatment, but the disease progressed at 6 months (PMID: 24053143). 24053143
ETV6-ALK Advanced Solid Tumor sensitive Entrectinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ETV6-ALK demonstrated sensitivity to Entrectinib (RXDX-101) in culture (PMID: 26939704). 26939704
ETV6-FGFR3 Advanced Solid Tumor sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, treatment with AZD4547 decreased Myc expression and inhibited growth of transformed cells expressing ETV6-FGFR3 (TEL-FGFR3) in culture (PMID: 27401245). 27401245
ETV6-NTRK3 small intestine neuroendocrine neoplasm sensitive Entrectinib Clinical Study Actionable In a clinical study, Entrectinib (RXDX-101) treatment resulted in rapid response and tumor necrosis in a patient with small intestine neuroendocrine tumor who harbored a ETV6-NTRK3 fusion (PMID: 29118225). 29118225
ETV6-NTRK3 congenital fibrosarcoma sensitive Larotrectinib Phase I Actionable In a Phase I clinical trial, treatment with Vitrakvi (larotrectinib) resulted in a partial response in a pediatric patient with infantile fibrosarcoma harboring ETV6-NTRK3 (PMID: 27093299). 27093299
ETV6-NTRK3 congenital fibrosarcoma sensitive Larotrectinib Phase Ib/II Actionable In a Phase I/II trial, Vitrakvi (larotrectinib) treatment resulted in complete response in 33.3% (2/6) and partial response in 66.7% (4/6) of pediatric patients with congenital fibrosarcoma harboring ETV6-NTRK3 fusions (PMID: 29606586; NCT02637687). 29606586
ETV6-NTRK3 congenital fibrosarcoma sensitive Larotrectinib Clinical Study Actionable In a clinical case study, a patient with congenital fibrosarcoma harboring ETV6-NTRK3 demonstrated tumor regression by 90% when treated with Vitrakvi (larotrectinib) (PMID: 28578312). 28578312
ETV6-NTRK3 Advanced Solid Tumor sensitive Entrectinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ETV6-NTRK3 were sensitive to Entrectinib (RXDX-101), resulting in inhibition of cell proliferation in culture (PMID: 26939704). 26939704
ETV6-NTRK3 Advanced Solid Tumor sensitive Entrectinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ETV6-NTRK3 were sensitive to Entrectinib (RXDX-101) as demonstrated by reduced proliferation relative to cells expressing an empty vector in culture (PMID: 26884591). 26884591
ETV6-NTRK3 melanoma sensitive DS-6051a Preclinical - Cell culture Actionable In a preclinical study, DS-6051a inhibited MAPK, PI3K, and PLCgamma-1 signaling in transformed melanocytes expressing ETV6-NTRK3 in culture (PMID: 27477320). 27477320
ETV6-NTRK3 Advanced Solid Tumor sensitive Lestaurtinib Preclinical Actionable In a preclinical study, transformed cells expressing the fusion, ETV6-NTRK3, were treated with Lestaurtinib (CEP-701), which resulted in inhibition of ETV6-NTRK3 autophosphorylation and restoration of Tgf-b1 signaling (PMID: 16258068). 16258068
ETV6-NTRK3 acute myeloid leukemia sensitive Larotrectinib Preclinical Actionable In a preclinical study, Vitrakvi (larotrectinib) inhibited cell growth and downstream signaling in acute myeloid leukemia cells harboring ETV6-NTRK3 in culture and xenografts (PMID: 26216294). 26216294
ETV6-NTRK3 head and neck squamous cell carcinoma sensitive Merestinib Preclinical - Pdx Actionable In a preclinical study, a head and neck squamous cell carcinoma patient-derived xenograft (PDX) model harboring ETV6-NTRK3 was sensitive to treatment with Merestinib (LY2801653) compared to vehicle, demonstrating decreased tumor growth (PMID: 29568395). 29568395
ETV6-NTRK3 fibrosarcoma predicted - sensitive Entrectinib Phase I Actionable In a Phase I trial, Entrectinib (RXDX-101) treatment resulted in an objective response in a pediatric patient with infantile fibrosarcoma harboring ETV6-NTRK3 fusion (J Clin Oncol 36, 2018 (suppl; abstr 10536); NCT02650401). detail...
ETV6-NTRK3 Advanced Solid Tumor sensitive Repotrectinib Preclinical - Cell culture Actionable In a preclinical study, Repotrectinib (TPX-0005) inhibited proliferation of transformed cells expressing ETV6-NTRK3 in culture (PMID: 30093503). 30093503
ETV6-NTRK3 salivary gland cancer sensitive Crizotinib Clinical Study Actionable In a clinical study, a single patient with mammary analogue secretory carcinoma harboring ETV6-NTRK3 responded to Xalkori (crizotinib) treatment with stable disease, however, disease progression was observed at 18 weeks (PMID: 26884591). 26884591
ETV6-NTRK3 acute myeloid leukemia sensitive CH7057288 Preclinical - Cell line xenograft Actionable In a preclinical study, CH7057288 inhibited NTRK phosphorylation and downstream signaling and reduced growth of acute myeloid leukemia cells harboring ETV6-NTRK3 in culture, and induced tumor regression in xenograft models (PMID: 30242093). 30242093
ETV6-NTRK3 congenital fibrosarcoma not applicable N/A Guideline Diagnostic ETV6-NTRK3 fusions aid the diagnosis of congenital fibrosarcoma (NCCN.org). detail...
ETV6-NTRK3 gastrointestinal stromal tumor predicted - sensitive Larotrectinib Phase I Actionable In a Phase I trial, Vitrakvi (larotrectinib) treatment resulted in complete response in 1 and partial response in 2 patients with gastrointestinal stromal tumor harboring ETV6-NTRK3 fusions (PMID: 29466156, Annals of Oncology, Volume 29, Issue suppl_5; NCT02122913, NCT02637687, and NCT02576431). 29466156 detail...
ETV6-NTRK3 breast cancer sensitive BMS-754807 Preclinical - Cell line xenograft Actionable In a preclinical study, BMS-754807 inhibited tumor growth in cell line xenograft models of breast cancer cells overexpressing ETV6-NTRK3 (PMID: 21148487). 21148487
ETV6-NTRK3 cancer sensitive Midostaurin Preclinical Actionable In a preclinical study, the broad spectrum kinase inhibitor midostaurin inhibited growth of cells dependent on the fusion protein ETV6-NTRK3, reducing ETV6-NTRK3 kinase activity and downstream signaling and inducing apoptosis (PMID: 23131561). 23131561
ETV6-NTRK3 Advanced Solid Tumor sensitive BMS-536924 Preclinical Actionable In a preclinical study, transformed human cells expressing ETV6-NTRK3 were sensitive to BMS-536924, demonstrating a reduction in both cell survival and transformation activity in culture (PMID: 21804605). 21804605
ETV6-NTRK3 salivary gland cancer sensitive Entrectinib Phase I Actionable In a Phase I clinical trial, treatment with Entrectinib (RXDX-101) resulted in a durable partial response in a patient with mammary analogue secretory carcinoma harboring ETV6-NTRK3 (PMID: 26884591). 26884591
ETV6-NTRK3 Advanced Solid Tumor sensitive Larotrectinib Phase II Actionable In a combined analysis of three trials, Vitrakvi (larotrectinib) treatment resulted in complete response in 21.4% (6/28) and partial response in 67.9% (19/28) of patients with advanced solid tumors harboring an ETV6-NTRK3 fusion (PMID: 29466156; NCT02122913, NCT02637687, NCT02576431). 29466156
ETV6-NTRK3 acute myeloid leukemia sensitive Crizotinib Preclinical - Cell line xenograft Actionable In a preclinical study, Xalkori (crizotinib) inhibited ETV6-NTRK3 activity, reduced cell growth in a human acute myeloid leukemia cell line harboring ETV6-NTRK3, and had anti-tumor activity in xenograft models (PMID: 23811600). 23811600
ETV6-NTRK3 Advanced Solid Tumor sensitive Altiratinib Preclinical Actionable In a preclinical study, transformed cells expressing ETV6-NTRK3 demonstrated sensitivity to Altiratinib (DCC-2701) in culture, resulting in inhibition of Ntrk3 phosphorylation and decreased cell proliferation (AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 790). detail...
ETV6-ROS1 Advanced Solid Tumor sensitive Entrectinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells expressing ETV6-ROS1 were sensitive to Entrectinib (RXDX-101), resulting in inhibition of cell proliferation in culture and decreased tumor growth in xenograft models (PMID: 26939704). 26939704
ETV6-JAK3 hematologic cancer predicted - resistant NS-108 Preclinical - Cell culture Actionable In a preclinical study, cells expressing ETV6-JAK3 were insensitive to treatment with NS-108 in culture (PMID: 22829185). 22829185
ETV6-PDGFRA chronic leukemia predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case report, a patient with ETV6-PDGFRA positive chronic eosinophilic leukemia experienced complete cytogenic remission after treatment with Gleevec (imatinib) (PMID: 17555450). 17555450
ETV6-NTRK2 acute myeloid leukemia sensitive Larotrectinib Clinical Study Actionable In a clinical study, a patient-derived xenograft model with AML harboring ETV6-NTRK2 showed sensitivity to treatment with Larotrectinib, demonstrating a decrease in ETV6-NTRK2-expressing cells, and the patient with secondary AML, from whom the model was derived from, developed a partial remission when treated with Vitrakvi (larotrectinib), showing complete elimination of the cell population harboring ETV6-NTRK2 (PMID: 29920189). 29920189
ETV6-NTRK2 Advanced Solid Tumor sensitive Entrectinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ETV6-NTRK2 were sensitive to Entrectinib (RXDX-101) as demonstrated by reduced proliferation relative to cells expressing an empty vector in culture (PMID: 26884591). 26884591
ETV6-NTRK2 Advanced Solid Tumor sensitive Entrectinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing ETV6-NTRK2 were sensitive to Entrectinib (RXDX-101), resulting in inhibition of cell proliferation in culture (PMID: 26939704). 26939704
ETV6-NTRK2 Advanced Solid Tumor sensitive Repotrectinib Preclinical - Cell culture Actionable In a preclinical study, Repotrectinib (TPX-0005) inhibited proliferation of transformed cells expressing ETV6-NTRK2 in culture (PMID: 30093503). 30093503
ETV6-FGFR1 Advanced Solid Tumor sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, treatment with AZD4547 decreased Myc expression and inhibited growth of transformed cells expressing ETV6-FGFR1 (TEL-FGFR1) in culture (PMID: 27401245). 27401245
ETV6-SYK Advanced Solid Tumor sensitive HMPL-523 Preclinical - Cell culture Actionable In a preclinical study, HMPL-523 decreased viability of cells expressing ETV6-SYK in culture (Blood Dec 2016, 128 (22) 3970). detail...
Clinical Trial Phase Therapies Title Recruitment Status