ETV6
ETV6(ETS variant transcription factor 6)またはTEL(translocated ETS leukemia)は、ヒトではETV6
遺伝子
[ヒトのETV6
タンパク質
[ヒトのETV6
医学 的 意義
[先天 性 変異
[ETV6で
ETV6
治療
[THC5の
ETV6のL349PまたはN385fsの
後天 性 変異
[ETV6
血液 腫瘍
[PDGFRA | 4q12 | t(4;12)(q12;p13) | クローン |
PDGFRB | 5q32 | t(5;12)(q31-33;p13) | ||||
FLT3 | 13q12.2 | t(12;13)(q13.1;p12.3-13) | ABL1 | 9q34.12 | t(9;12)(q34;p13) | |||||
RUNX1 | 21q22.12 | t(12;21)(p13;q22) | PAX5 | ホメオボックス |
9p13.2 | t(9;12)(q11;p13) | ||||
MNX1 | ホメオボックス |
7q36.3 | t(7:12)(q36;p13) | 18 |
MECOM | 3q26.2 | t(3;12)(q26;p13) |
ETV6
治療
[ETV6
固形 腫瘍
[ETV6
治療
[ETV6
出典
[- ^ a b c GRCh38: Ensembl release 89: ENSG00000139083 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030199 - Ensembl, May 2017
- ^ Human PubMed Reference:
- ^ Mouse PubMed Reference:
- ^ a b c d e f g “ETV6 fusion genes in hematological malignancies: a review”. Leukemia Research 36 (8): 945–61. (August 2012). doi:10.1016/j.leukres.2012.04.010. PMID 22578774.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) ETS Variant Gene 6; ETV6 -600618
- ^ a b “Hematopoietic transcription factor mutations: important players in inherited platelet defects”. Blood 129 (21): 2873–2881. (May 2017). doi:10.1182/blood-2016-11-709881. PMC 5445569. PMID 28416505 .
- ^ a b c “The ETS family of oncogenic transcription factors in solid tumours”. Nature Reviews. Cancer 17 (6): 337–351. (June 2017). doi:10.1038/nrc.2017.20. PMID 28450705.
- ^ “The ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity”. The Journal of Biological Chemistry 273 (28): 17525–30. (July 1998). doi:10.1074/jbc.273.28.17525. PMID 9651344.
- ^ “The acetyltransferase 60 kDa trans-acting regulatory protein of HIV type 1-interacting protein (Tip60) interacts with the translocation E26 transforming-specific leukaemia gene (TEL) and functions as a transcriptional co-repressor”. The Biochemical Journal 374 (Pt 1): 165–73. (August 2003). doi:10.1042/BJ20030087. PMC 1223570. PMID 12737628 .
- ^ a b “Hereditary Predispositions to Myelodysplastic Syndrome”. International Journal of Molecular Sciences 17 (6): 838. (May 2016). doi:10.3390/ijms17060838. PMC 4926372. PMID 27248996 .
- ^ a b “Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy”. Nature Genetics 47 (2): 180–5. (February 2015). doi:10.1038/ng.3177. PMC 4540357. PMID 25581430 .
- ^ a b “Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia”. PLOS Genetics 11 (6): e1005262. (June 2015). doi:10.1371/journal.pgen.1005262. PMC 4477877. PMID 26102509 .
- ^ a b c d “Myeloid neoplasms with eosinophilia”. Blood 129 (6): 704–714. (February 2017). doi:10.1182/blood-2016-10-695973. PMID 28028030.
- ^ “Myelodysplastic syndromes: Contemporary review and how we treat”. American Journal of Hematology 91 (1): 76–89. (January 2016). doi:10.1002/ajh.24253. PMID 26769228.
- ^ “CHIC2 cysteine rich hydrophobic domain 2 (human)”. Entrez Gene. 2022
年 8月 15日 閲覧 。 - ^ “MDS2 myelodysplastic syndrome 2 translocation associated”. Entrez Gene. 2022
年 8月 15日 閲覧 。 - ^ “A t(6;12)(q23;p13) results in the fusion of ETV6 to a novel gene, STL, in a B-cell ALL cell line”. Genes, Chromosomes & Cancer 18 (4): 254–68. (April 1997). doi:10.1002/(sici)1098-2264(199704)18:4<254::aid-gcc3>3.0.co;2-#. PMID 9087565.
- ^ “ETV6 mutations in early immature human T cell leukemias”. The Journal of Experimental Medicine 208 (13): 2571–9. (December 2011). doi:10.1084/jem.20112239. PMC 3244026. PMID 22162831 .
- ^ “The NOTCH1-MYC highway toward T-cell acute lymphoblastic leukemia”. Blood 129 (9): 1124–1133. (March 2017). doi:10.1182/blood-2016-09-692582. PMID 28115368.
- ^ “Tyrosine Kinase Inhibitors and Therapeutic Antibodies in Advanced Eosinophilic Disorders and Systemic Mastocytosis”. Current Hematologic Malignancy Reports 10 (4): 351–61. (December 2015). doi:10.1007/s11899-015-0280-3. PMID 26404639.
- ^ a b c “Targeting TRK family proteins in cancer”. Pharmacology & Therapeutics 173: 58–66. (May 2017). doi:10.1016/j.pharmthera.2017.02.006. PMID 28174090.
- ^ “The Cytokine Flt3-Ligand in Normal and Malignant Hematopoiesis”. International Journal of Molecular Sciences 18 (6): 1115. (May 2017). doi:10.3390/ijms18061115. PMC 5485939. PMID 28538663 .
- ^ “Response of ETV6-FLT3-positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3”. Blood 118 (8): 2239–42. (August 2011). doi:10.1182/blood-2011-03-343426. PMID 21705501.
- ^ “Discovery of TAK-659 an orally available investigational inhibitor of Spleen Tyrosine Kinase (SYK)”. Bioorganic & Medicinal Chemistry Letters 26 (24): 5947–5950. (December 2016). doi:10.1016/j.bmcl.2016.10.087. PMID 27839918.
- ^ “Targeting signaling pathways in acute lymphoblastic leukemia: new insights”. Hematology. American Society of Hematology. Education Program 2013: 118–25. (2013). doi:10.1182/asheducation-2013.1.118. PMID 24319172 .
- ^ a b c “Molecular mechanisms of ETS transcription factor-mediated tumorigenesis”. Critical Reviews in Biochemistry and Molecular Biology 48 (6): 522–43. (2013). doi:10.3109/10409238.2013.838202. PMC 4086824. PMID 24066765 .
- ^ “Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma”. Cancer Cell 2 (5): 367–76. (November 2002). doi:10.1016/S1535-6108(02)00180-0. PMID 12450792.
- ^ Majewska H, Skálová A, Stodulski D, Klimková A, Steiner P, Stankiewicz C, Biernat W. "Mammary analogue secretory carcinoma of salivary glands: a new entity associated with ETV6 gene rearrangement." Virchows Arch. 2015 Mar;466(3):245-54. doi: 10.1007/s00428-014-1701-8. Epub 2014 Dec 12.
- ^ “Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: application to challenging pediatric renal stromal tumors”. Modern Pathology 13 (1): 29–36. (January 2000). doi:10.1038/modpathol.3880006. PMID 10658907.
- ^ “Newly described salivary gland tumors”. Modern Pathology 30 (s1): S27–S43. (January 2017). doi:10.1038/modpathol.2016.167. PMID 28060365.
- ^ “ETV6-NTRK3 Is Expressed in a Subset of ALK-Negative Inflammatory Myofibroblastic Tumors”. The American Journal of Surgical Pathology 40 (8): 1051–61. (August 2016). doi:10.1097/PAS.0000000000000677. PMID 27259007.
- ^ “ClinicalTrials.gov” (
英語 ). clinicaltrials.gov. 2022年 8月 21日 閲覧 。
関連 文献
[- “Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature”. Cancer Genetics and Cytogenetics 138 (2): 139–42. (October 2002). doi:10.1016/S0165-4608(02)00609-X. PMID 12505259.
- “Nucleotide sequence analysis of human abl and bcr-abl cDNAs”. Oncogene 4 (12): 1477–81. (December 1989). PMID 2687768.
- “Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11”. Oncogene 10 (8): 1511–9. (April 1995). PMID 7731705.
- “Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia”. Proceedings of the National Academy of Sciences of the United States of America 92 (11): 4917–21. (May 1995). Bibcode: 1995PNAS...92.4917G. doi:10.1073/pnas.92.11.4917. PMC 41818. PMID 7761424 .
- “The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion”. Blood 85 (12): 3662–70. (June 1995). doi:10.1182/blood.V85.12.3662.bloodjournal85123662. PMID 7780150.
- “The novel activation of ABL by fusion to an ets-related gene, TEL”. Cancer Research 55 (1): 34–8. (January 1995). PMID 7805037.
- “Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation”. Cell 77 (2): 307–16. (April 1994). doi:10.1016/0092-8674(94)90322-0. PMID 8168137.
- “Biallelic alterations of both ETV6 and CDKN1B genes in a t(12;21) childhood acute lymphoblastic leukemia case”. Cancer Research 56 (11): 2655–61. (June 1996). PMID 8653712.
- “Genomic organization of TEL: the human ETS-variant gene 6”. Genome Research 6 (5): 404–13. (May 1996). doi:10.1101/gr.6.5.404. PMID 8743990.
- “Normalization and subtraction: two approaches to facilitate gene discovery”. Genome Research 6 (9): 791–806. (September 1996). doi:10.1101/gr.6.9.791. PMID 8889548.
- “Generation and analysis of 280,000 human expressed sequence tags”. Genome Research 6 (9): 807–28. (September 1996). doi:10.1101/gr.6.9.807. PMID 8889549.
- “Deletions of CDKN1B and ETV6 in acute myeloid leukemia and myelodysplastic syndromes without cytogenetic evidence of 12p abnormalities”. Genes, Chromosomes & Cancer 19 (2): 77–83. (June 1997). doi:10.1002/(SICI)1098-2264(199706)19:2<77::AID-GCC2>3.0.CO;2-X. PMID 9171997.
- “A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia”. Science 278 (5341): 1309–12. (November 1997). Bibcode: 1997Sci...278.1309L. doi:10.1126/science.278.5341.1309. PMID 9360930.
- “A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma”. Nature Genetics 18 (2): 184–7. (February 1998). doi:10.1038/ng0298-184. PMID 9462753.
- “The ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity”. The Journal of Biological Chemistry 273 (28): 17525–30. (July 1998). doi:10.1074/jbc.273.28.17525. PMID 9651344.
- “Haemopoietic transformation by the TEL/ABL oncogene”. British Journal of Haematology 102 (2): 475–85. (July 1998). doi:10.1046/j.1365-2141.1998.00803.x. PMID 9695962.
- “Modulation of TEL transcription activity by interaction with the ubiquitin-conjugating enzyme UBC9”. Proceedings of the National Academy of Sciences of the United States of America 96 (13): 7467–72. (June 1999). Bibcode: 1999PNAS...96.7467R. doi:10.1073/pnas.96.13.7467. PMC 22109. PMID 10377438 .
- “Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13)”. Blood 94 (5): 1820–4. (September 1999). doi:10.1182/blood.V94.5.1820. PMID 10477709.
- “Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13)”. Genes, Chromosomes & Cancer 26 (3): 192–202. (November 1999). doi:10.1002/(SICI)1098-2264(199911)26:3<192::AID-GCC2>3.0.CO;2-E. PMID 10502316.
- “The ETV6-NTRK3 gene fusion encodes a chimeric protein tyrosine kinase that transforms NIH3T3 cells”. Oncogene 19 (7): 906–15. (February 2000). doi:10.1038/sj.onc.1203396. PMID 10702799.