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Philadelphia Chromosome Positive, BCR-ABL1 Positive Chronic Myelogenous Leukemia

MedGen UID:
75993
•Concept ID:
C0279543
•
Neoplastic Process
Synonyms: Chronic Granulocytic Leukemia; Chronic Granulocytic Leukemias; Chronic Myelocytic Leukemia; Chronic Myelocytic Leukemias; Chronic Myelogenous Leukemia; Chronic Myelogenous Leukemias; Chronic Myeloid Leukemia; Chronic Myeloid Leukemias; Granulocytic Leukemia, Chronic; Granulocytic Leukemias, Chronic; Leukemia, Chronic Granulocytic; Leukemia, Chronic Myelocytic; Leukemia, Chronic Myelogenous; Leukemia, Chronic Myeloid; Leukemia, Granulocytic, Chronic; Leukemia, Myelocytic, Chronic; Leukemia, Myelogenous, Chronic; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Leukemia, Myelogenous, Ph1 Positive; Leukemia, Myelogenous, Ph1-Positive; Leukemia, Myeloid, Chronic; Leukemia, Myeloid, Ph1 Positive; Leukemia, Myeloid, Ph1-Positive; Leukemia, Myeloid, Philadelphia Positive; Leukemia, Myeloid, Philadelphia-Positive; Leukemia, Ph1-Positive Myelogenous; Leukemia, Ph1-Positive Myeloid; Leukemia, Philadelphia-Positive Myeloid; Leukemias, Chronic Granulocytic; Leukemias, Chronic Myelocytic; Leukemias, Chronic Myelogenous; Leukemias, Chronic Myeloid; Leukemias, Ph1-Positive Myelogenous; Leukemias, Ph1-Positive Myeloid; Leukemias, Philadelphia-Positive Myeloid; Myelocytic Leukemia, Chronic; Myelocytic Leukemias, Chronic; Myelogenous Leukemia, Chronic; Myelogenous Leukemia, Ph1 Positive; Myelogenous Leukemia, Ph1-Positive; Myelogenous Leukemias, Chronic; Myelogenous Leukemias, Ph1-Positive; Myeloid Leukemia, Chronic; Myeloid Leukemia, Ph1 Positive; Myeloid Leukemia, Ph1-Positive; Myeloid Leukemia, Philadelphia Positive; Myeloid Leukemia, Philadelphia-Positive; Myeloid Leukemias, Chronic; Myeloid Leukemias, Ph1-Positive; Myeloid Leukemias, Philadelphia-Positive; Ph1-Positive Myelogenous Leukemia; Ph1-Positive Myelogenous Leukemias; Ph1-Positive Myeloid Leukemia; Ph1-Positive Myeloid Leukemias; Philadelphia-Positive Myeloid Leukemia; Philadelphia-Positive Myeloid Leukemias
SNOMED CT: Philadelphia chromosome positive chronic myelogenous leukemia (449108003)

Definition

A chronic myelogenous leukemia characterised by the t(9;22)(q34;q11) chromosomal translocation, resulting in the presence of the Philadelphia chromosome and the BCR-ABL1 fusion gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhiladelphia Chromosome Positive, BCR-ABL1 Positive Chronic Myelogenous Leukemia

Professional guidelines

PubMed

Pathogenesis and management of accelerated and blast phases of chronic myeloid leukemia.
Senapati J, Jabbour E, Kantarjian H, Short NJ
Leukemia 2023 Jan;37(1):5-17. Epub 2022 Oct 29 doi: 10.1038/s41375-022-01736-5. PMID: 36309558
Chronic Myeloid Leukemia, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
Deininger MW, Shah NP, Altman JK, Berman E, Bhatia R, Bhatnagar B, DeAngelo DJ, Gotlib J, Hobbs G, Maness L, Mead M, Metheny L, Mohan S, Moore JO, Naqvi K, Oehler V, Pallera AM, Patnaik M, Pratz K, Pusic I, Rose MG, Smith BD, Snyder DS, Sweet KL, Talpaz M, Thompson J, Yang DT, Gregory KM, Sundar H
J Natl Compr Canc Netw 2020 Oct 1;18(10):1385-1415. doi: 10.6004/jnccn.2020.0047. PMID: 33022644
Diagnosis and Treatment of Chronic Myeloid Leukemia in 2015.
Thompson PA, Kantarjian HM, Cortes JE
Mayo Clin Proc 2015 Oct;90(10):1440-54. doi: 10.1016/j.mayocp.2015.08.010. PMID: 26434969Free PMC Article

Recent clinical studies

Etiology

Chronic Myeloid Leukemia: Modern therapies, current challenges and future directions.
Osman AEG, Deininger MW
Blood Rev 2021 Sep;49:100825. Epub 2021 Mar 16 doi: 10.1016/j.blre.2021.100825. PMID: 33773846Free PMC Article
Asciminib in Chronic Myeloid Leukemia after ABL Kinase Inhibitor Failure.
Hughes TP, Mauro MJ, Cortes JE, Minami H, Rea D, DeAngelo DJ, Breccia M, Goh YT, Talpaz M, Hochhaus A, le Coutre P, Ottmann O, Heinrich MC, Steegmann JL, Deininger MWN, Janssen JJWM, Mahon FX, Minami Y, Yeung D, Ross DM, Tallman MS, Park JH, Druker BJ, Hynds D, Duan Y, Meille C, Hourcade-Potelleret F, Vanasse KG, Lang F, Kim DW
N Engl J Med 2019 Dec 12;381(24):2315-2326. doi: 10.1056/NEJMoa1902328. PMID: 31826340Free PMC Article
Management of chronic myeloid leukemia in children and adolescents: Recommendations from the Children's Oncology Group CML Working Group.
Athale U, Hijiya N, Patterson BC, Bergsagel J, Andolina JR, Bittencourt H, Schultz KR, Burke MJ, Redell MS, Kolb EA, Johnston DL
Pediatr Blood Cancer 2019 Sep;66(9):e27827. Epub 2019 Jun 10 doi: 10.1002/pbc.27827. PMID: 31330093Free PMC Article
Chronic Myeloid Leukemia: Beyond BCR-ABL1.
Zhou T, Medeiros LJ, Hu S
Curr Hematol Malig Rep 2018 Dec;13(6):435-445. doi: 10.1007/s11899-018-0474-6. PMID: 30370478
Ponatinib efficacy and safety in Philadelphia chromosome-positive leukemia: final 5-year results of the phase 2 PACE trial.
Cortes JE, Kim DW, Pinilla-Ibarz J, le Coutre PD, Paquette R, Chuah C, Nicolini FE, Apperley JF, Khoury HJ, Talpaz M, DeAngelo DJ, Abruzzese E, Rea D, Baccarani M, Müller MC, Gambacorti-Passerini C, Lustgarten S, Rivera VM, Haluska FG, Guilhot F, Deininger MW, Hochhaus A, Hughes TP, Shah NP, Kantarjian HM
Blood 2018 Jul 26;132(4):393-404. Epub 2018 Mar 22 doi: 10.1182/blood-2016-09-739086. PMID: 29567798Free PMC Article

Diagnosis

Ponatinib and blinatumomab for Philadelphia chromosome-positive acute lymphoblastic leukaemia: a US, single-centre, single-arm, phase 2 trial.
Jabbour E, Short NJ, Jain N, Huang X, Montalban-Bravo G, Banerjee P, Rezvani K, Jiang X, Kim KH, Kanagal-Shamanna R, Khoury JD, Patel K, Kadia TM, Daver N, Chien K, Alvarado Y, Garcia-Manero G, Issa GC, Haddad FG, Kwari M, Thankachan J, Delumpa R, Macaron W, Garris R, Konopleva M, Ravandi F, Kantarjian H
Lancet Haematol 2023 Jan;10(1):e24-e34. Epub 2022 Nov 16 doi: 10.1016/S2352-3026(22)00319-2. PMID: 36402146
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 leukaemia.
Cortes J, Pavlovsky C, Saußele S
Lancet 2021 Nov 20;398(10314):1914-1926. Epub 2021 Aug 20 doi: 10.1016/S0140-6736(21)01204-6. PMID: 34425075
Chronic Myeloid Leukemia: Modern therapies, current challenges and future directions.
Osman AEG, Deininger MW
Blood Rev 2021 Sep;49:100825. Epub 2021 Mar 16 doi: 10.1016/j.blre.2021.100825. PMID: 33773846Free 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

Therapy

Ponatinib and blinatumomab for Philadelphia chromosome-positive acute lymphoblastic leukaemia: a US, single-centre, single-arm, phase 2 trial.
Jabbour E, Short NJ, Jain N, Huang X, Montalban-Bravo G, Banerjee P, Rezvani K, Jiang X, Kim KH, Kanagal-Shamanna R, Khoury JD, Patel K, Kadia TM, Daver N, Chien K, Alvarado Y, Garcia-Manero G, Issa GC, Haddad FG, Kwari M, Thankachan J, Delumpa R, Macaron W, Garris R, Konopleva M, Ravandi F, Kantarjian H
Lancet Haematol 2023 Jan;10(1):e24-e34. Epub 2022 Nov 16 doi: 10.1016/S2352-3026(22)00319-2. PMID: 36402146
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 leukaemia.
Cortes J, Pavlovsky C, Saußele S
Lancet 2021 Nov 20;398(10314):1914-1926. Epub 2021 Aug 20 doi: 10.1016/S0140-6736(21)01204-6. PMID: 34425075
Chronic Myeloid Leukemia: Modern therapies, current challenges and future directions.
Osman AEG, Deininger MW
Blood Rev 2021 Sep;49:100825. Epub 2021 Mar 16 doi: 10.1016/j.blre.2021.100825. PMID: 33773846Free 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

Prognosis

Chronic Myeloid Leukemia: Modern therapies, current challenges and future directions.
Osman AEG, Deininger MW
Blood Rev 2021 Sep;49:100825. Epub 2021 Mar 16 doi: 10.1016/j.blre.2021.100825. PMID: 33773846Free 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
Asciminib in Chronic Myeloid Leukemia after ABL Kinase Inhibitor Failure.
Hughes TP, Mauro MJ, Cortes JE, Minami H, Rea D, DeAngelo DJ, Breccia M, Goh YT, Talpaz M, Hochhaus A, le Coutre P, Ottmann O, Heinrich MC, Steegmann JL, Deininger MWN, Janssen JJWM, Mahon FX, Minami Y, Yeung D, Ross DM, Tallman MS, Park JH, Druker BJ, Hynds D, Duan Y, Meille C, Hourcade-Potelleret F, Vanasse KG, Lang F, Kim DW
N Engl J Med 2019 Dec 12;381(24):2315-2326. doi: 10.1056/NEJMoa1902328. PMID: 31826340Free PMC Article
Chronic Myeloid Leukemia: Beyond BCR-ABL1.
Zhou T, Medeiros LJ, Hu S
Curr Hematol Malig Rep 2018 Dec;13(6):435-445. doi: 10.1007/s11899-018-0474-6. PMID: 30370478
Ponatinib efficacy and safety in Philadelphia chromosome-positive leukemia: final 5-year results of the phase 2 PACE trial.
Cortes JE, Kim DW, Pinilla-Ibarz J, le Coutre PD, Paquette R, Chuah C, Nicolini FE, Apperley JF, Khoury HJ, Talpaz M, DeAngelo DJ, Abruzzese E, Rea D, Baccarani M, Müller MC, Gambacorti-Passerini C, Lustgarten S, Rivera VM, Haluska FG, Guilhot F, Deininger MW, Hochhaus A, Hughes TP, Shah NP, Kantarjian HM
Blood 2018 Jul 26;132(4):393-404. Epub 2018 Mar 22 doi: 10.1182/blood-2016-09-739086. PMID: 29567798Free PMC Article

Clinical prediction guides

Ponatinib and blinatumomab for Philadelphia chromosome-positive acute lymphoblastic leukaemia: a US, single-centre, single-arm, phase 2 trial.
Jabbour E, Short NJ, Jain N, Huang X, Montalban-Bravo G, Banerjee P, Rezvani K, Jiang X, Kim KH, Kanagal-Shamanna R, Khoury JD, Patel K, Kadia TM, Daver N, Chien K, Alvarado Y, Garcia-Manero G, Issa GC, Haddad FG, Kwari M, Thankachan J, Delumpa R, Macaron W, Garris R, Konopleva M, Ravandi F, Kantarjian H
Lancet Haematol 2023 Jan;10(1):e24-e34. Epub 2022 Nov 16 doi: 10.1016/S2352-3026(22)00319-2. PMID: 36402146
Treatment of blast phase chronic myeloid leukaemia: A rare and challenging entity.
Copland M
Br J Haematol 2022 Dec;199(5):665-678. Epub 2022 Jul 22 doi: 10.1111/bjh.18370. PMID: 35866251Free PMC Article
The leukaemia stem cell: similarities, differences and clinical prospects in CML and AML.
Vetrie D, Helgason GV, Copland M
Nat Rev Cancer 2020 Mar;20(3):158-173. Epub 2020 Jan 6 doi: 10.1038/s41568-019-0230-9. PMID: 31907378
Chronic myeloid leukemia with complex karyotypes: Prognosis and therapeutic approaches.
Asnafi AA, Deris Zayeri Z, Shahrabi S, Zibara K, Vosughi T
J Cell Physiol 2019 May;234(5):5798-5806. Epub 2018 Nov 14 doi: 10.1002/jcp.27505. PMID: 30430567
The Philadelphia chromosome in leukemogenesis.
Kang ZJ, Liu YF, Xu LZ, Long ZJ, Huang D, Yang Y, Liu B, Feng JX, Pan YJ, Yan JS, Liu Q
Chin J Cancer 2016 May 27;35:48. doi: 10.1186/s40880-016-0108-0. PMID: 27233483Free PMC Article

Recent systematic reviews

Chronic Myeloid Leukemia following Exposure to Radioactive Iodine (I131): A Systematic Review.
Ali Hailan YM, Al-Dubai HN, Yassin MA
Oncology 2023;101(6):362-368. Epub 2023 May 9 doi: 10.1159/000530463. PMID: 37231874
First-line imatinib vs second- and third-generation TKIs for chronic-phase CML: a systematic review and meta-analysis.
Vener C, Banzi R, Ambrogi F, Ferrero A, Saglio G, Pravettoni G, Sant M
Blood Adv 2020 Jun 23;4(12):2723-2735. doi: 10.1182/bloodadvances.2019001329. PMID: 32559295Free PMC Article
Systematic review of pre-clinical chronic myeloid leukaemia.
Kuan JW, Su AT, Leong CF, Osato M, Sashida G
Int J Hematol 2018 Nov;108(5):465-484. Epub 2018 Sep 14 doi: 10.1007/s12185-018-2528-x. PMID: 30218276
Imatinib treatment in chronic myelogenous leukemia: What have we learned so far?
Breccia M, Efficace F, Alimena G
Cancer Lett 2011 Jan 28;300(2):115-21. Epub 2010 Nov 12 doi: 10.1016/j.canlet.2010.10.018. PMID: 21074936
Chronic myelogenous leukemia and benzene exposure: a systematic review and meta-analysis of the case-control literature.
Lamm SH, Engel A, Joshi KP, Byrd DM 3rd, Chen R
Chem Biol Interact 2009 Dec 10;182(2-3):93-7. Epub 2009 Aug 18 doi: 10.1016/j.cbi.2009.08.010. PMID: 19695237

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