Gene Detail

Gene Symbol ETV6
Synonyms TEL | TEL/ABL | THC5
Gene Description ETV6, ets variant 6, is a member of the ETS family of transcription factors, which functions as a transcriptional repressor and is involved in hematopoietic differentiation (PMID: 16828711). Fusions of ETV6 with various partners are frequently associated with hematological cancers (PMID: 22528774).
Entrez Id 2120
Chromosome 12
Map Location 12p13.2
Canonical Transcript NM_001987

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
ETV6 - ABL1 fusion gain of function ETV6-ABL1 results from the fusion of ETV6 (also referred to as TEL) and ABL1, demonstrating increased kinase activity (PMID: 9695962) and the ability to induce CML-like myeloproliferative disease in mice (PMID: 12036890) and in cell culture (PMID: 9695962).
ETV6 - JAK3 fusion unknown ETV6-JAK3 results in the fusion of ETV6 and JAK3. ETV6-JAK3 has not been characterized in the scientific literature and therefore, its effect on protein function is unknown (PubMed, Mar 2018).
L79S missense unknown ETV6 L79S lies within the PNT domain of the Etv6 protein (UniProt.org). L79S has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
Y391* nonsense unknown ETV6 Y391* results in a premature truncation of the Etv6 protein at amino acid 391 of 452 (UniProt.org). Y391* has been identified in sequencing studies (PMID: 25344691, PMID: 26224873), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Dec 2018).
P324Q missense unknown ETV6 P324Q does not lie within any known functional domains of the Etv6 protein (UniProt.org). P324Q has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
L201P missense unknown ETV6 L201P does not lie within any known functional domains of the Etv6 protein (UniProt.org). L201P has not been characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - PDGFRB fusion gain of function ETV6-PDGFRB results from the fusion of ETV6 and PDGFRB, demonstrating the ability to stimulate proliferation and differentiation of progenitor cells and activation of transcription factors (PMID: 22271894).
ETV6 - FGFR3 fusion gain of function ETV6-FGFR3 results from the fusion of ETV6 (also referred to as TEL) and FGFR3 (PMID: 15514005), demonstrating constitutive kinase activity and the ability to transform cells in culture (PMID: 15514005).
ETV6 - LYN fusion gain of function ETV6-LYN results from the fusion of ETV6 and LYN, demonstrating constitutive Lyn kinase activity and the ability to phosphorylate Stat5, and is transforming in cell culture (PMID: 21492125).
ETV6 - PTPRR fusion gain of function ETV6-PTPRR (also referred to as TEL-PTPRR) results from the fusion of ETV6 and PTPRR, demonstrating the ability to lead to Stat activation and growth-factor independent growth in culture (PMID: 16061641).
R199Q missense unknown ETV6 R199Q does not lie within any known functional domains of the Etv6 protein (UniProt.org). R199Q has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R309W missense unknown ETV6 R309W does not lie within any known functional domains of the Etv6 protein (UniProt.org). R309W has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
D351H missense unknown ETV6 D351H lies within the ETS domain of the Etv6 protein (PMID: 25581430). D351H has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - PRDM16 fusion gain of function - predicted ETV6-PRDM16 results from the fusion of ETV6 and PRDM16 (PMID: 22050763). ETV6-PRDM16 has been identified in acute myeloid leukemia and myelodysplastic syndrome, but has not been biochemically characterized, however, has been demonstrated to result in over expression of PRDM16 (PMID: 22050763).
R378P missense unknown ETV6 R378P lies within the ETS domain of the Etv6 protein (PMID: 25581430). R378P has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - CDX2 fusion unknown ETV6-CDX2 results from the fusion of ETV6 and CDX2 (PMID: 9920852). ETV6-CDX2 has been identified in acute myeloid leukemia (PMID: 9920852), but has not been fully biochemically characterized, however, over expression of CDX2, but not ETV6-CDX2, resulted in transformation in mice (PMID: 14718672).
R55C missense unknown ETV6 R55C lies within the PNT domain of the Etv6 protein (UniProt.org). R55C has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R369W missense unknown ETV6 R369W lies within the ETS domain of the Etv6 protein (PMID: 25581430). R369W has been identified in sequencing studies (PMID: 25581430, PMID: 22810696, PMID: 22895193) but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R378* nonsense unknown ETV6 R378* results in a premature truncation of the Etv6 protein at amino acid 378 of 452 (UniProt.org). R378* has been identified in sequencing studies (PMID: 24345752), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
D65E missense unknown ETV6 D65E lies within the PNT domain of the Etv6 protein (UniProt.org). D65E has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
inact mut unknown loss of function ETV6 inact mut indicates that this variant results in a loss of function of the Etv6 protein. However, the specific amino acid change has not been identified.
R181L missense unknown ETV6 R181L does not lie within any known functional domains of the Etv6 protein (UniProt.org). R181L has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
I186V missense unknown ETV6 I186V does not lie within any known functional domains of the Etv6 protein (UniProt.org). I186V has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - RNF217-AS1 fusion unknown ETV6-RNF217-AS1 (also referred to as ETV6-STL) results from the fusion of ETV6 and RNF217-AS1 (PMID: 25298122). ETV6-RNF217-AS1 has been identified in acute lymphoblastic lymphoma (PMID: 25298122), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
R191W missense unknown ETV6 R191W does not lie within any known functional domains of the Etv6 protein (UniProt.org). R191W has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
A6V missense unknown ETV6 A6V does not lie within any known functional domains of the Etv6 protein (UniProt.org). A6V has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - ABL2 fusion gain of function ETV6-ABL2 (also known as TEL-ARG) results from the fusion of ETV6 and ABL2, demonstrating increased proliferation and increased phosphorylation of multiple cellular signaling proteins (PMID: 15005341, PMID: 25373509).
H141Y missense unknown ETV6 H141Y does not lie within any known functional domains of the Etv6 protein (UniProt.org). H141Y has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
P214L missense loss of function ETV6 P214L does not lie within any known functional domains of the Etv6 protein (UniProt.org). P214L results in decreased Etv6 transcriptional repression and delayed megakaryocyte maturation in cell culture (PMID: 25807284).
ETV6 - NTRK2 fusion gain of function - predicted ETV6-NTRK2 results in the fusion of ETV6 and NTRK2 (PMID: 26939704). ETV6-NTRK2 has not been biochemically characterized, but is sensitive to Trk inhibition (PMID: 26939704, PMID: 26884591), and therefore, is predicted to result in a gain of function.
ETV6 - JAK2 fusion gain of function ETV6-JAK2 results from the fusion of ETV6 (also referred to as TEL) and JAK2 (PMID: 9736611). ETV6-JAK2 results in growth factor independence, constitutive kinase activity and increased downstream signaling (PMID: 9736611).
L341fs frameshift loss of function - predicted ETV6 L341fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 341of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA binding domain, L341fs is predicted to lead to a loss of Etv6 protein function (UniProt.org).
ETV6 - NTRK3 fusion gain of function ETV6-NTRK3 results from the fusion of ETV6 and NTRK3, which leads to ligand-independent dimerization and activation of the fusion protein, transformation in cultured cells and tumor formation in animal models (PMID: 10702799). ETV6-NTRK3 fusions are associated with secretory breast carcinoma (PMID: 17425505).
ETV6 - FGFR1 fusion gain of function - predicted ETV6-FGFR1 results from the fusion of ETV6 (also referred to as TEL) and FGFR1 (PMID: 21764904), and demonstrates transforming ability in cell culture (PMID: 20338520) and therefore, is predicted to confer a gain of function.
Y391fs frameshift unknown ETV6 Y391fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 391 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Y391fs has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Dec 2018).
ETV6 - FGFR4 fusion gain of function ETV6-FGFR4 results from the fusion of ETV6 (also referred to as TEL) and FGFR4 (PMID: 24124571), and demonstrates constitutive kinase activity and the ability to transform cells in culture (PMID: 24124571).
P194S missense unknown ETV6 P194S does not lie within any known functional domains of the Etv6 protein (UniProt.org). P194S has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
G375R missense unknown ETV6 G375R lies within the ETS domain of the Etv6 protein (PMID: 25581430). G375R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R202W missense unknown ETV6 R202W does not lie within any known functional domains of the Etv6 protein (UniProt.org). R202W has been identified in sequencing studies (PMID: 25042771), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R264C missense unknown ETV6 R264C does not lie within any known functional domains of the Etv6 protein (UniProt.org). R264C has been identified in sequencing studies (PMID: 25581430, PMID: 22810696), but has not been characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - ALK fusion gain of function - predicted ETV6-ALK results from the fusion of ETV6 and ALK (PMID: 29327718), which is transforming in culture (PMID: 21572589) and therefore, is predicted to confer a gain of function. ETV6-ALK fusion has been identified in epithelioid fibrous histiocytoma (PMID: 29327718).
ETV6 - ITPR2 fusion unknown ETV6-ITPR2 results from the fusion of ETV6 and ITPR2 (PMID: 20033038). ETV6-ITPR2 has been identified in breast cancer (PMID: 20033038), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
ETV6 - RUNX1 fusion gain of function ETV6-RUNX1 results from the fusion of ETV6 and RUNX1, which leads to altered transcriptional regulation resulting in preleukemic cells (PMID: 17325341) and demonstrates upregulation of EPOR, leading to increased cell survival (PMID: 21900195).
R396K missense unknown ETV6 R396K lies within the ETS domain of the Etv6 protein (PMID: 25581430). R396K has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
P214S missense unknown ETV6 P214S lies within the internal linker domain of the Etv6 protein (PMID: 25581430). P214S has not been characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Jul 2018).
R14Q missense unknown ETV6 R14Q does not lie within any known functional domains of the Etv6 protein (UniProt.org). R14Q has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
S165Y missense unknown ETV6 S165Y does not lie within any known functional domains of the Etv6 protein (UniProt.org). S165Y has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - ACSL6 fusion unknown ETV6-ACSL6 results from the fusion of ETV6 and ACSL6 (PMID: 16572202). ETV6-ACSL6 has been identified in polycythemia vera (PMID: 16572202) and chronic eosinophilic leukemia (PMID: 27458550), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
R399H missense loss of function - predicted ETV6 R399H lies within the ETS domain of the Etv6 protein (PMID: 25581430). R399H leads to decreased binding of the Etv6 ETS-domain to DNA, and decreased repression in a reporter assay (Blood Nov 2004, 104 (11) 2055) and therefore, R399H is predicted to result in a loss of Etv6 protein function.
ETV6 - FRK fusion gain of function ETV6-FRK results from the fusion of ETV6 and FRK, demonstrating constitutive Frk phosphorylation and transforming ability in culture (PMID: 15611931).
R259L missense unknown ETV6 R259L does not lie within any known functional domains of the Etv6 protein (UniProt.org). R259L has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - PER1 fusion unknown ETV6-PER1 results in the fusion of ETV6 and PER1. ETV6-PER1 has been identified in acute myeloid leukemia and has not been biochemically characterized, however, it does not result in a functional fusion protein, but is hypothesized to knock out Per1 expression (PMID: 12661008).
R259G missense unknown ETV6 R259G does not lie within any known functional domains of the Etv6 protein (UniProt.org). R259G has been identified in sequencing studies (PMID: 25581430, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - BAZ2A fusion unknown ETV6-BAZ2A results from the fusion of ETV6 and BAZ2A (PMID: 16643428). ETV6-BAZ2A has been identified in acute lymphoblastic leukemia (PMID: 16643428), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
L117F missense unknown ETV6 L117F lies within the PNT domain of the Etv6 protein (UniProt.org). L117F has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
S203fs frameshift loss of function - predicted ETV6 S203fs results in a change in the amino acid sequence of the Etv6 protein beginning at aa 203 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the DNA binding domain, S203fs is predicted to lead to a loss of Etv6 protein function (UniProt.org).
ETV6 - INO80D fusion unknown ETV6-INO80D results from the fusion of ETV6 and INO80D (PMID: 22237106). ETV6-INO80D has been identified in acute lymphoblastic leukemia (PMID: 22237106), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
ETV6 - NKAIN2 fusion unknown ETV6-NKAIN2 results from the fusion of ETV6 and NKAIN2. ETV6-NKAIN2 has not been characterized in the scientific literature and therefore, the effect on protein function is unknown (PubMed, Aug 2018).
ETV6 - PDGFRA fusion gain of function - predicted ETV6-PDGFRA results from the fusion of ETV6 and PDGFRA (PMID: 17555450). ETV6-PDGFRA is responsive to Pdgfra inhibition and therefore, the fusion is predicted to result in a gain of function (PMID: 17555450).
R217T missense unknown ETV6 R217T does not lie within any known functional domains of the Etv6 protein (UniProt.org). R217T has been identified in sequencing studies (PMID: 21798897, PMID: 23619168), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R259Q missense unknown ETV6 R259Q does not lie within any known functional domains of the Etv6 protein (UniProt.org). R259Q has been identified in sequencing studies (PMID: 25581430, PMID: 22895193, PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - ARNT fusion unknown ETV6-ARNT results from the fusion of ETV6 and ARNT (PMID: 20804916). ETV6-ARNT has been identified in childhood T lymphoblastic leukemia (PMID: 20804916), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
ETV6 - FLT3 fusion gain of function ETV6-FLT3 results from the fusion of ETV6 and FLT3, demonstrating the ability to transform cells in culture (PMID: 16761019) and has constitutively activated kinase activity (PMID: 19345670).
E392K missense unknown ETV6 E392K lies within the ETS domain of the Etv6 protein (PMID: 25581430). E392K has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - MDS2 fusion unknown ETV6-MDS2 results from the fusion of ETV6 and MDS2 (PMID: 12203785). ETV6-MDS2 has been identified in myelodysplastic syndrome (PMID: 12203785), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
ETV6 - MECOM fusion unknown ETV6-MECOM results from fusion of ETV6 and MECOM (also referred to as EVI1) (PMID: 9044825). ETV6-MECOM has been identified in myeloproliferative disorders and acute myeloid leukemia (PMID: 9044825, PMID: 28182364), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
I407T missense unknown ETV6 I407T lies within the ETS domain of the Etv6 protein (PMID: 25581430). I407T has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
K403E missense unknown ETV6 K403E lies within the ETS domain of the Etv6 protein (PMID: 25581430). K403E has been identified in sequencing studies (PMID: 23103869), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R386I missense unknown ETV6 R386I lies within the ETS domain of the Etv6 protein (PMID: 25581430). R386I has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
D111N missense unknown ETV6 D111N lies within the PNT domain of the Etv6 protein (UniProt.org). D111N has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - NCOA2 fusion unknown ETV6-NCOA2 results from the fusion of ETV6 and NCOA2 (PMID: 18281529). ETV6-NCOA2 has been identified in acute leukemia (PMID: 18281529), but has not been characterized and therefore, its effect on fusion protein function is unknown (PubMed, Mar 2018).
N382D missense unknown ETV6 N382D lies within the ETS domain of the Etv6 protein (PMID: 25581430). N382D has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R127Q missense unknown ETV6 R127Q does not lie within any known functional domains of the Etv6 protein (UniProt.org). R127Q has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
I406S missense unknown ETV6 I406S lies within the ETS domain of the Etv6 protein (PMID: 25581430). I406S has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R181C missense unknown ETV6 R181C does not lie within any known functional domains of the Etv6 protein (UniProt.org). R181C has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
mutant unknown unknown ETV6 mutant indicates an unspecified mutation in the ETV6 gene.
D206N missense unknown ETV6 D206N does not lie within any known functional domains of the Etv6 protein (UniProt.org). D206N has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
N228S missense unknown ETV6 N228S does not lie within any known functional domains of the Etv6 protein (UniProt.org). N228S has been identified in sequencing studies (PMID: 22980975, PMID: 21984974), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
R399C missense loss of function ETV6 R399C lies within the ETS domain of the Etv6 protein (PMID: 25581430). R399C results in loss of Etv6 binding to DNA, inhibition of wild-type Etv6 transcriptional repression, and decreased hematopoietic stem cell proliferation in cell culture (PMID: 25581430).
R396G missense unknown ETV6 R396G lies within the ETS domain of the Etv6 protein (PMID: 25581430). R396G has been identified in sequencing studies (PMID: 23856246, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - GOT1 fusion unknown ETV6-GOT1 results from the fusion of ETV6 and GOT1 (PMID: 16757412). ETV6-GOT1 has been identified in myelodysplastic syndrome (PMID: 16757412, PMID: 18310541), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2018).
ETV6 - SYK fusion gain of function ETV6-SYK results from the fusion of ETV6 and SYK (PMID: 22373549). ETV6-SYK has been identified in acute lymphoblastic leukemia (PMID: 22373549), and results in constitutive activation of the fusion protein, and is transforming in cultured cells (PMID: 11159536).
R369L missense unknown ETV6 R369L lies within the ETS domain of the Etv6 protein (PMID: 25581430). R369L has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
D372N missense unknown ETV6 D372N lies within the ETS domain of the Etv6 protein (PMID: 25581430). D372N has been identified in the scientific literature (PMID: 25581430), but has not been biochemically characterized and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
ETV6 - ROS1 fusion gain of function - predicted ETV6-ROS1 results from the fusion of ETV6 and ROS1, and leads to constitutive ROS1 activation in cultured cells (PMID: 26939704) and therefore, is predicted to confer a gain of function.
Y346C missense unknown ETV6 Y346C lies within the ETS domain of the Etv6 protein (PMID: 25581430). Y346C has not been characterized in the scientific literature and therefore, its effect on Etv6 protein function is unknown (PubMed, Feb 2018).
Molecular Profile Protein Effect Treatment Approaches
ETV6-ABL1 gain of function
ETV6-JAK3 unknown
ETV6 L79S unknown
ETV6 Y391* unknown
ETV6 P324Q unknown
ETV6 L201P unknown
ETV6-PDGFRB gain of function
ETV6-FGFR3 gain of function
ETV6-LYN gain of function
ETV6-PTPRR gain of function
ETV6 R199Q unknown
ETV6 R309W unknown
ETV6 D351H unknown
ETV6-PRDM16 gain of function - predicted
ETV6 R378P unknown
ETV6-CDX2 unknown
ETV6 R55C unknown
ETV6 R369W unknown
ETV6 R378* unknown
ETV6 D65E unknown
ETV6 inact mut loss of function
ETV6 R181L unknown
ETV6 I186V unknown
ETV6-STL unknown
ETV6 R191W unknown
ETV6 A6V unknown
ETV6-ABL2 gain of function
ETV6 H141Y unknown
ETV6 P214L loss of function
ETV6-NTRK2 gain of function - predicted Trk Receptor Inhibitor (Pan)
ETV6 - JAK2 JAK2 E864K
ETV6 - JAK2 JAK2 G831R
ETV6 - JAK2 JAK2 G935R
ETV6 - JAK2 JAK2 Y918H
ETV6 - JAK2 JAK2 P1057S
ETV6-JAK2 JAK2 E864K
ETV6 - JAK2 JAK2 R1127K
ETV6-JAK2 JAK2 M929I
ETV6-JAK2 JAK2 R975G
ETV6-JAK2 gain of function
ETV6-JAK2 JAK2 N909K
ETV6-JAK2 JAK2 V881A
ETV6 - JAK2 JAK2 M929I
ETV6-JAK2 JAK2 G935R
ETV6 L341fs loss of function - predicted
ETV6-NTRK3 gain of function IGF-1R Inhibitor Trk Receptor Inhibitor (Pan) Crizotinib
ETV6-FGFR1 gain of function - predicted
ETV6 Y391fs unknown
ETV6-FGFR4 gain of function
ETV6 P194S unknown
ETV6 G375R unknown
ETV6 R202W unknown
ETV6 R264C unknown
ETV6-ALK gain of function - predicted ALK Inhibitor
ETV6-ITPR2 unknown
ETV6-RUNX1 gain of function
ETV6 R396K unknown
ETV6 P214S unknown
ETV6 R14Q unknown
ETV6 S165Y unknown
ETV6-ACSL6 unknown
ETV6 R399H loss of function - predicted
ETV6-FRK gain of function
ETV6 R259L unknown
ETV6-PER1 unknown
ETV6 R259G unknown
ETV6-BAZ2A unknown
ETV6 L117F unknown
ETV6 S203fs loss of function - predicted
ETV6-INO80D unknown
ETV6-NKAIN2 unknown
ETV6-PDGFRA gain of function - predicted
ETV6 R217T unknown
ETV6 R259Q unknown
ETV6-ARNT unknown
ETV6-FLT3 gain of function
ETV6 E392K unknown
ETV6-MDS2 unknown
ETV6-MECOM unknown
ETV6 I407T unknown
ETV6 K403E unknown
ETV6 R386I unknown
ETV6 D111N unknown
ETV6-NCOA2 unknown
ETV6 N382D unknown
ETV6 R127Q unknown
ETV6 I406S unknown
ETV6 R181C unknown
ETV6 mutant unknown
ETV6 D206N unknown
ETV6 N228S unknown
ETV6 R399C loss of function
ETV6 R396G unknown
ETV6-GOT1 unknown
ETV6-SYK gain of function
ETV6 R369L unknown
ETV6 D372N unknown
ETV6-ROS1 gain of function - predicted ROS1 Inhibitor
ETV6 Y346C unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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-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-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 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-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 acute myeloid leukemia sensitive Larotrectinib Preclinical - Pdx 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 - 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 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 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 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 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-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 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 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 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 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-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 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 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 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 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 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 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 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 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 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 congenital fibrosarcoma not applicable N/A Guideline Diagnostic ETV6-NTRK3 fusions aid the diagnosis of congenital fibrosarcoma (NCCN.org). detail...
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 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 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 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-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 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 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-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-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-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-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-PDGFRA chronic leukemia sensitive Imatinib Clinical Study 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 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-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...
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