3,883
edits
Changes
→Cancer Category/Type
This ''ETV6'' gene, either as a translocation partner with dozens of partner genes or as simple substitution mutations is found at a low level in many cancers [https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC]), but 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 as simple substitution mutations is found at a low level in many cancers [https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=etv6 see COSMIC]), but 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/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].
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].
''ETV6'' fused with ''PDGFRB'' has been found in patients with [http://www.ccga.io/index.php/Chronic_Myelomonocytic_Leukemia_(CMML) 'chronic myelomonocytic leukemia] (Golub et al. (1994) and chronic myeloproliferative disorder Apperley et al. (2002). acute lymphocytic leukemia ETV6/RUNX1 Golub et al. (1995). The ETV6-PDGFRA fusion gene has been found in patients with chronic eosinophilic leukaemia (CEL), and these patients responded to low-dose imatinib [1].
* '''[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). The ETV6-PDGFRA fusion gene has been found in patients with chronic eosinophilic leukaemia (CEL), and these patients responded to low-dose imatinib [1].
==Gene Overview==
==Gene Overview==