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| This ''ETV6'' gene, either as a translocation partner with dozens of partner genes or having simple substitution mutations, is found at a low level in many cancers ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC]); it is more prominent as a fusion protein in a number of hematological malignancies [1,2,[http://www.omim.org/entry/600618 see OMIM]]. | | This ''ETV6'' gene, either as a translocation partner with dozens of partner genes or having simple substitution mutations, is found at a low level in many cancers ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC]); it is more prominent as a fusion protein in a number of hematological malignancies [1,2,[http://www.omim.org/entry/600618 see OMIM]]. |
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| + | *'''[http://www.ccga.io/index.php/Myeloid_Neoplasms_with_Germline_Predisposition Myeloid Neoplasms with Germline Predisposition]''' |
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| + | --- '''[http://www.ccga.io/index.php/HAEM4:Myeloid_Neoplasms_with_Germline_ETV6_Mutation Myeloid Neoplasms with Germline ETV6 Mutation]''' |
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| * '''[http://www.ccga.io/index.php/Acute_lymphoblastic_leukaemia_(ALL) Acute Lymphocytic Leukemia (ALL)]''' | | * '''[http://www.ccga.io/index.php/Acute_lymphoblastic_leukaemia_(ALL) Acute Lymphocytic Leukemia (ALL)]''' |
− | The t(12;21)(p13;q22) resulting in ETV6-RUNX1 fusion has been found in 25% of childhood B-cell acute lymphoblastic leukemia (B-ALL), but are much less common in adult B-ALL (only 2%) [2]. The fusion protein produced by the translocation confers a dominant negative effect on the normal RUNX1 protein, resulting in transcriptional activation become transcriptional repression [1,2]. The t(12;21) confers a favorable prognosis with cures seen in >90% of childhood B-ALL [1]. | + | --- '''[http://www.ccga.io/index.php/B_lymphoblastic_leukaemia/lymphoma_with_t(12;21)(p13;q22);_TEL-AML1_(ETV6-RUNX1)_positive B Lymphoblastic Leukaemia/Lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) Positive]''' |
| + | The t(12;21)(p13;q22) resulting in ETV6-RUNX1 fusion has been found in 25% of childhood B-cell acute lymphoblastic leukemia (B-ALL), but are much less common in adult B-ALL (only 2%) [2,5]. The fusion protein produced by the translocation confers a dominant negative effect on the normal RUNX1 protein, resulting in transcriptional activation become transcriptional repression [1,2]. The t(12;21) confers a favorable prognosis with cures seen in >90% of childhood B-ALL [1]. |
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| + | * '''[http://www.ccga.io/index.php/Acute_myeloid_leukemia_with_t(4;12)(q12;p13),_CHIC2-ETV6 Acute Myeloid Leukemia with t(4;12)(q12;p13),CHIC2-ETV6]''' |
| + | This translocation is a recurrent but rare finding in patients with acute myeloid leukemia [7], and a poor response to therapy has been reported. |
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− | * '''[http://www.ccga.io/index.php/Chronic_Myelomonocytic_Leukemia_(CMML) Chronic Myelomonocytic Leukemia (CMML)]'''' | + | |
− | ''ETV6'' fused with ''PDGFRB'' has been found in patients with CMML (Golub et al. (1994) and chronic myeloproliferative disorder Apperley et al. (2002). acute lymphocytic leukemia ETV6/RUNX1 Golub et al. (1995). | + | * '''[http://www.ccga.io/index.php/HAEM5:Chronic_myelomonocytic_leukaemia Chronic Myelomonocytic Leukemia (CMML)]'''' |
| + | ''ETV6'' fused with ''PDGFRB'' has been found in patients with CMML [6]. |
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| A large number of simple substitution mutations have been found spread throughout ''ETV6'' in a large number of human malignancies at relatively low percentages ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC] and [http://www.cancerindex.org/geneweb/ETV6.htm see Cancer Index]). | | A large number of simple substitution mutations have been found spread throughout ''ETV6'' in a large number of human malignancies at relatively low percentages ([https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC] and [http://www.cancerindex.org/geneweb/ETV6.htm see Cancer Index]). |
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− | ''ETV6'' has also been identified as a fusion partner in at least 30 chromosomal translocations and is frequently deleted either with or without the remaining allele being involved in a translocation.[3, [http://atlasgeneticsoncology.org/Genes/ETV6ID38.html Atlas of Genetics and Cytogenetics in Oncology and Haematology], [http://www.omim.org/entry/600618 OMIM]]. Some of these fusions include: | + | ''ETV6'' has also been identified as a fusion partner in at least 30 chromosomal translocations and is frequently deleted either with or without the remaining allele being involved in a translocation [3, [http://atlasgeneticsoncology.org/Genes/ETV6ID38.html Atlas of Genetics and Cytogenetics in Oncology and Haematology], [http://www.omim.org/entry/600618 OMIM]]. Some of these fusions include: |
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| - ETV6/PDGFRB | | - ETV6/PDGFRB |
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| ==Internal Pages== | | ==Internal Pages== |
| + | '''[[HAEM4:Myeloid Neoplasms with Germline ETV6 Mutation]]''' |
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| '''[http://www.ccga.io/index.php/Acute_lymphoblastic_leukaemia_(ALL) Acute Lymphocytic Leukemia (ALL)]''' | | '''[http://www.ccga.io/index.php/Acute_lymphoblastic_leukaemia_(ALL) Acute Lymphocytic Leukemia (ALL)]''' |
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− | '''[http://www.ccga.io/index.php/Chronic_Myelomonocytic_Leukemia_(CMML) Chronic Myelomonocytic Leukemia (CMML)]'''' | + | '''[http://www.ccga.io/index.php/HAEM5:Chronic_myelomonocytic_leukaemia Chronic Myelomonocytic Leukemia (CMML)]''' |
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| + | '''[http://www.ccga.io/index.php/B_lymphoblastic_leukaemia/lymphoma_with_t(12;21)(p13;q22);_TEL-AML1_(ETV6-RUNX1)_positive B Lymphoblastic Leukaemia/Lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) Positive]''' |
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| + | '''[http://www.ccga.io/index.php/Acute_myeloid_leukemia_with_t(4;12)(q12;p13),_CHIC2-ETV6 Acute Myeloid Leukemia with t(4;12)(q12;p13),CHIC2-ETV6]''' |
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| ==External Links== | | ==External Links== |
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| 4. Zhang MY, et al., (2015). Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy, Nature Genet 47:180–185, PMID 25581430. DOI: 10.1038/ng.3177. | | 4. Zhang MY, et al., (2015). Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy, Nature Genet 47:180–185, PMID 25581430. DOI: 10.1038/ng.3177. |
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| + | 5. Golub TR, et al., (1995). Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. Proc Natl Acad Sci U S A 92(11):4917-4921, PMID 7761424. |
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| + | 6. Apperley JF, et al., (2002). Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. N Engl J Med. 347(7):481-487, PMID 12181402. |
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| + | 7. Cools J, et al., (1999). Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q21;p13). Blood 94(5):1820-1824, PMID 10477709. |
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| == Notes == | | == Notes == |