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ETV6-ABL1 Fusion Protein Expression

MedGen UID:
271737
•Concept ID:
C1515154
•
Cell or Molecular Dysfunction
Synonyms: ETV6/ABL1 Fusion Protein Expression; TEL-ABL Fusion Protein Expression; TEL/ABL Fusion Protein Expression

Definition

Expression of a fusion protein that results from a a chromosomal rearrangement, t(9;12)(q34.1;p13.2), which involves the human genes ETV6 and ABL1 and is associated with myeloid/lymphoid neoplasms with ETV6-ABL1. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVETV6-ABL1 Fusion Protein Expression

Recent clinical studies

Etiology

Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
Barbouti A, Ahlgren T, Johansson B, Höglund M, Lassen C, Turesson I, Mitelman F, Fioretos T
Br J Haematol 2003 Jul;122(1):85-93. doi: 10.1046/j.1365-2141.2003.04391.x. PMID: 12823349

Diagnosis

Two novel fusion genes, AIF1L-ETV6 and ABL1-AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin.
Lukes J Jr, Potuckova E, Sramkova L, Stary J, Starkova J, Trka J, Votava F, Zuna J, Zaliova M
Genes Chromosomes Cancer 2018 Sep;57(9):471-477. Epub 2018 Jul 30 doi: 10.1002/gcc.6. PMID: 29726059
Characterization of leukemias with ETV6-ABL1 fusion.
Zaliova M, Moorman AV, Cazzaniga G, Stanulla M, Harvey RC, Roberts KG, Heatley SL, Loh ML, Konopleva M, Chen IM, Zimmermannova O, Schwab C, Smith O, Mozziconacci MJ, Chabannon C, Kim M, Frederik Falkenburg JH, Norton A, Marshall K, Haas OA, Starkova J, Stuchly J, Hunger SP, White D, Mullighan CG, Willman CL, Stary J, Trka J, Zuna J
Haematologica 2016 Sep;101(9):1082-93. Epub 2016 May 26 doi: 10.3324/haematol.2016.144345. PMID: 27229714Free PMC Article
ABL1 rearrangements in T-cell acute lymphoblastic leukemia.
Hagemeijer A, Graux C
Genes Chromosomes Cancer 2010 Apr;49(4):299-308. doi: 10.1002/gcc.20743. PMID: 20073070
Establishment and cytogenetic characterization of a human acute lymphoblastic leukemia cell line (ALL-VG) with ETV6/ABL1 rearrangement.
Baeumler J, Szuhai K, Falkenburg JH, van Schie ML, Ottmann OG, Nijmeijer BA
Cancer Genet Cytogenet 2008 Aug;185(1):37-42. doi: 10.1016/j.cancergencyto.2008.05.001. PMID: 18656692
Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
Barbouti A, Ahlgren T, Johansson B, Höglund M, Lassen C, Turesson I, Mitelman F, Fioretos T
Br J Haematol 2003 Jul;122(1):85-93. doi: 10.1046/j.1365-2141.2003.04391.x. PMID: 12823349

Therapy

An activating mutation of GNB1 is associated with resistance to tyrosine kinase inhibitors in ETV6-ABL1-positive leukemia.
Zimmermannova O, Doktorova E, Stuchly J, Kanderova V, Kuzilkova D, Strnad H, Starkova J, Alberich-Jorda M, Falkenburg JHF, Trka J, Petrak J, Zuna J, Zaliova M
Oncogene 2017 Oct 26;36(43):5985-5994. Epub 2017 Jun 26 doi: 10.1038/onc.2017.210. PMID: 28650474Free PMC Article
Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
Barbouti A, Ahlgren T, Johansson B, Höglund M, Lassen C, Turesson I, Mitelman F, Fioretos T
Br J Haematol 2003 Jul;122(1):85-93. doi: 10.1046/j.1365-2141.2003.04391.x. PMID: 12823349

Prognosis

Characterization of leukemias with ETV6-ABL1 fusion.
Zaliova M, Moorman AV, Cazzaniga G, Stanulla M, Harvey RC, Roberts KG, Heatley SL, Loh ML, Konopleva M, Chen IM, Zimmermannova O, Schwab C, Smith O, Mozziconacci MJ, Chabannon C, Kim M, Frederik Falkenburg JH, Norton A, Marshall K, Haas OA, Starkova J, Stuchly J, Hunger SP, White D, Mullighan CG, Willman CL, Stary J, Trka J, Zuna J
Haematologica 2016 Sep;101(9):1082-93. Epub 2016 May 26 doi: 10.3324/haematol.2016.144345. PMID: 27229714Free PMC Article
Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
Barbouti A, Ahlgren T, Johansson B, Höglund M, Lassen C, Turesson I, Mitelman F, Fioretos T
Br J Haematol 2003 Jul;122(1):85-93. doi: 10.1046/j.1365-2141.2003.04391.x. PMID: 12823349

Clinical prediction guides

Establishment and cytogenetic characterization of a human acute lymphoblastic leukemia cell line (ALL-VG) with ETV6/ABL1 rearrangement.
Baeumler J, Szuhai K, Falkenburg JH, van Schie ML, Ottmann OG, Nijmeijer BA
Cancer Genet Cytogenet 2008 Aug;185(1):37-42. doi: 10.1016/j.cancergencyto.2008.05.001. PMID: 18656692

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