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ABL1 Gene Rearrangement

MedGen UID:
1376577
•Concept ID:
C4329222
•
Cell or Molecular Dysfunction
Synonyms: ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase Gene Rearrangement; c-ABL1 Gene Rearrangement; JTK7 Gene Rearrangement; v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the ABL1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVABL1 Gene Rearrangement

Professional guidelines

PubMed

Molecular genetic tests for JAK2V617F, Exon12_JAK2 and MPLW515K/L are highly informative in the evaluation of patients suspected to have BCR-ABL1-negative myeloproliferative neoplasms.
dos Santos MT, Mitne-Neto M, Miyashiro K, Chauffaille Mde L, Rizzatti EG
J Clin Pathol 2014 Feb;67(2):176-8. Epub 2013 Aug 28 doi: 10.1136/jclinpath-2013-201822. PMID: 23986553Free PMC Article

Recent clinical studies

Etiology

Chronic myeloid leukemia: 2025 update on diagnosis, therapy, and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2024 Nov;99(11):2191-2212. Epub 2024 Aug 2 doi: 10.1002/ajh.27443. PMID: 39093014
Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
Davis K, Sheikh T, Aggarwal N
Semin Diagn Pathol 2023 May;40(3):202-215. Epub 2023 Apr 9 doi: 10.1053/j.semdp.2023.04.003. PMID: 37120350
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
A causal mechanism for childhood acute lymphoblastic leukaemia.
Greaves M
Nat Rev Cancer 2018 Aug;18(8):471-484. doi: 10.1038/s41568-018-0015-6. PMID: 29784935Free PMC Article
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article

Diagnosis

Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
Davis K, Sheikh T, Aggarwal N
Semin Diagn Pathol 2023 May;40(3):202-215. Epub 2023 Apr 9 doi: 10.1053/j.semdp.2023.04.003. PMID: 37120350
Updates on eosinophilic disorders.
Tzankov A, Reichard KK, Hasserjian RP, Arber DA, Orazi A, Wang SA
Virchows Arch 2023 Jan;482(1):85-97. Epub 2022 Sep 7 doi: 10.1007/s00428-022-03402-8. PMID: 36068374
Chronic myeloid leukemia: 2022 update on diagnosis, therapy, and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2022 Sep;97(9):1236-1256. Epub 2022 Jul 6 doi: 10.1002/ajh.26642. PMID: 35751859
Chronic myeloid leukemia: 2020 update on diagnosis, therapy and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2020 Jun;95(6):691-709. Epub 2020 Apr 10 doi: 10.1002/ajh.25792. PMID: 32239758
Chronic myeloid leukemia: 2018 update on diagnosis, therapy and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2018 Mar;93(3):442-459. doi: 10.1002/ajh.25011. PMID: 29411417

Therapy

Chronic myeloid leukemia: 2025 update on diagnosis, therapy, and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2024 Nov;99(11):2191-2212. Epub 2024 Aug 2 doi: 10.1002/ajh.27443. PMID: 39093014
Chronic myeloid leukemia: 2022 update on diagnosis, therapy, and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2022 Sep;97(9):1236-1256. Epub 2022 Jul 6 doi: 10.1002/ajh.26642. PMID: 35751859
Chronic myeloid leukemia: 2020 update on diagnosis, therapy and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2020 Jun;95(6):691-709. Epub 2020 Apr 10 doi: 10.1002/ajh.25792. PMID: 32239758
Chronic myeloid leukemia: 2018 update on diagnosis, therapy and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2018 Mar;93(3):442-459. doi: 10.1002/ajh.25011. PMID: 29411417
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article

Prognosis

NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution.
Choi YJ, Min YK, Lee ST, Choi JR, Shin S
Ann Lab Med 2024 Jul 1;44(4):335-342. Epub 2023 Dec 26 doi: 10.3343/alm.2023.0301. PMID: 38145892Free PMC Article
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
Chronic myeloid leukemia: 2020 update on diagnosis, therapy and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2020 Jun;95(6):691-709. Epub 2020 Apr 10 doi: 10.1002/ajh.25792. PMID: 32239758
Chronic myeloid leukemia: 2018 update on diagnosis, therapy and monitoring.
Jabbour E, Kantarjian H
Am J Hematol 2018 Mar;93(3):442-459. doi: 10.1002/ajh.25011. PMID: 29411417
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030

Clinical prediction guides

Clinico-Haematologic Parameters And Assessment Of Post-Induction Status In Acute Lymphoblastic Leukaemia.
Niaz H, Malik HS, Mahmood R, Mehmood A, Zaidi SA, Nisar U
J Ayub Med Coll Abbottabad 2022 Jul-Sep;34(3):458-462. doi: 10.55519/JAMC-03-10448. PMID: 36377156
Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction.
Kulis J, Sędek Ł, Słota Ł, Perkowski B, Szczepański T
Genes (Basel) 2022 Jul 31;13(8) doi: 10.3390/genes13081374. PMID: 36011285Free PMC Article
CRLF2 and IKZF1 abnormalities in Mexican children with acute lymphoblastic leukemia and recurrent gene fusions: exploring surrogate markers of signaling pathways.
Moreno Lorenzana D, Juárez Velázquez MDR, Reyes León A, Martínez Anaya D, Hernández Monterde A, Salas Labadía C, Navarrete Meneses MDP, Zapata Tarrés M, Juárez Villegas L, Jarquín Ramírez B, Cárdenas Cardós R, Herrera Almanza M, Paredes Aguilera R, Pérez Vera P
J Pathol Clin Res 2021 Jul;7(4):410-421. Epub 2021 Apr 23 doi: 10.1002/cjp2.211. PMID: 33890726Free PMC Article
Role of flow-cytometric immunophenotyping in prediction of BCR/ABL1 gene rearrangement in adult B-cell acute lymphoblastic leukemia.
Corrente F, Bellesi S, Metafuni E, Puggioni PL, Marietti S, Ciminello AM, Za T, Sorà F, Fianchi L, Sica S, De Stefano V, Chiusolo P
Cytometry B Clin Cytom 2018 May;94(3):468-476. Epub 2017 Dec 29 doi: 10.1002/cyto.b.21605. PMID: 29220871
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030

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