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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]].
*'''[http://www.ccga.io/index.php/Myeloid_Neoplasms_with_Germline_Predisposition Myeloid Neoplasms with Germline Predisposition]'''
--- '''[http://www.ccga.io/index.php/HAEM4:Myeloid_Neoplasms_with_Germline_ETV6_Mutation Myeloid Neoplasms with Germline ETV6 Mutation]'''
* '''[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].
* '''[http://www.ccga.io/index.php/Chronic_Myelomonocytic_Leukemia_(CMML) Chronic Myelomonocytic Leukemia (CMML)]''''
* '''[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]'''
''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).
This translocation is a recurrent but rare finding in patients with acute myeloid leukemia [7], and a poor response to therapy has been reported.
* '''[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].
==Internal Pages==
==Internal Pages==
'''[[HAEM4:Myeloid Neoplasms with Germline ETV6 Mutation]]'''
'''[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)]'''
'''[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)]'''
'''[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]'''
'''[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]'''
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.
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.
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.
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.
== Notes ==
== Notes ==