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Philadelphia Chromosome

MedGen UID:
10715
•Concept ID:
C0031526
•
Pathologic Function
Synonyms: 1 Chromosomes, Ph; Chromosome, Ph 1; Chromosome, Ph1; Chromosome, Philadelphia; Chromosomes, Ph 1; Chromosomes, Ph1; Ph 1 Chromosome; Ph 1 Chromosomes; Ph1 Chromosome; Ph1 Chromosomes

Definition

A translocation between chromosomes 9 and 22. It is the hallmark for chronic myelogenous leukemia (CML). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhiladelphia Chromosome

Professional guidelines

PubMed

Myeloproliferative Neoplasms, Version 3.2022, NCCN Clinical Practice Guidelines in Oncology.
Gerds AT, Gotlib J, Ali H, Bose P, Dunbar A, Elshoury A, George TI, Gundabolu K, Hexner E, Hobbs GS, Jain T, Jamieson C, Kaesberg PR, Kuykendall AT, Madanat Y, McMahon B, Mohan SR, Nadiminti KV, Oh S, Pardanani A, Podoltsev N, Rein L, Salit R, Stein BL, Talpaz M, Vachhani P, Wadleigh M, Wall S, Ward DC, Bergman MA, Hochstetler C
J Natl Compr Canc Netw 2022 Sep;20(9):1033-1062. doi: 10.6004/jnccn.2022.0046. PMID: 36075392
Treatment of Adults With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia-From Intensive Chemotherapy Combinations to Chemotherapy-Free Regimens: A Review.
Jabbour E, Haddad FG, Short NJ, Kantarjian H
JAMA Oncol 2022 Sep 1;8(9):1340-1348. doi: 10.1001/jamaoncol.2022.2398. PMID: 35834222
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet.
Barbui T, Tefferi A, Vannucchi AM, Passamonti F, Silver RT, Hoffman R, Verstovsek S, Mesa R, Kiladjian JJ, Hehlmann R, Reiter A, Cervantes F, Harrison C, Mc Mullin MF, Hasselbalch HC, Koschmieder S, Marchetti M, Bacigalupo A, Finazzi G, Kroeger N, Griesshammer M, Birgegard G, Barosi G
Leukemia 2018 May;32(5):1057-1069. Epub 2018 Feb 27 doi: 10.1038/s41375-018-0077-1. PMID: 29515238Free PMC Article

Recent clinical studies

Etiology

Treatment of Adults With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia-From Intensive Chemotherapy Combinations to Chemotherapy-Free Regimens: A Review.
Jabbour E, Haddad FG, Short NJ, Kantarjian H
JAMA Oncol 2022 Sep 1;8(9):1340-1348. doi: 10.1001/jamaoncol.2022.2398. PMID: 35834222
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
Precision medicine in acute lymphoblastic leukemia.
Pui CH
Front Med 2020 Dec;14(6):689-700. Epub 2020 Oct 19 doi: 10.1007/s11684-020-0759-8. PMID: 33074527Free PMC Article
Pediatric acute lymphoblastic leukemia.
Inaba H, Mullighan CG
Haematologica 2020 Nov 1;105(11):2524-2539. doi: 10.3324/haematol.2020.247031. [Epub ahead of print] PMID: 33054110Free PMC Article
Philadelphia chromosome-like acute lymphoblastic leukemia.
Tasian SK, Loh ML, Hunger SP
Blood 2017 Nov 9;130(19):2064-2072. Epub 2017 Oct 2 doi: 10.1182/blood-2017-06-743252. PMID: 28972016Free PMC Article

Diagnosis

Treatment of Adults With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia-From Intensive Chemotherapy Combinations to Chemotherapy-Free Regimens: A Review.
Jabbour E, Haddad FG, Short NJ, Kantarjian H
JAMA Oncol 2022 Sep 1;8(9):1340-1348. doi: 10.1001/jamaoncol.2022.2398. PMID: 35834222
Pediatric acute lymphoblastic leukemia.
Inaba H, Mullighan CG
Haematologica 2020 Nov 1;105(11):2524-2539. doi: 10.3324/haematol.2020.247031. [Epub ahead of print] PMID: 33054110Free PMC Article
Clinical diagnostics and treatment strategies for Philadelphia chromosome-like acute lymphoblastic leukemia.
Harvey RC, Tasian SK
Blood Adv 2020 Jan 14;4(1):218-228. doi: 10.1182/bloodadvances.2019000163. PMID: 31935290Free 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
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet.
Barbui T, Tefferi A, Vannucchi AM, Passamonti F, Silver RT, Hoffman R, Verstovsek S, Mesa R, Kiladjian JJ, Hehlmann R, Reiter A, Cervantes F, Harrison C, Mc Mullin MF, Hasselbalch HC, Koschmieder S, Marchetti M, Bacigalupo A, Finazzi G, Kroeger N, Griesshammer M, Birgegard G, Barosi G
Leukemia 2018 May;32(5):1057-1069. Epub 2018 Feb 27 doi: 10.1038/s41375-018-0077-1. PMID: 29515238Free PMC Article

Therapy

Effect of Postreinduction Therapy Consolidation With Blinatumomab vs Chemotherapy on Disease-Free Survival in Children, Adolescents, and Young Adults With First Relapse of B-Cell Acute Lymphoblastic Leukemia: A Randomized Clinical Trial.
Brown PA, Ji L, Xu X, Devidas M, Hogan LE, Borowitz MJ, Raetz EA, Zugmaier G, Sharon E, Bernhardt MB, Terezakis SA, Gore L, Whitlock JA, Pulsipher MA, Hunger SP, Loh ML
JAMA 2021 Mar 2;325(9):833-842. doi: 10.1001/jama.2021.0669. PMID: 33651090Free 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
Combination of hyper-CVAD with ponatinib as first-line therapy for patients with Philadelphia chromosome-positive acute lymphoblastic leukaemia: long-term follow-up of a single-centre, phase 2 study.
Jabbour E, Short NJ, Ravandi F, Huang X, Daver N, DiNardo CD, Konopleva M, Pemmaraju N, Wierda W, Garcia-Manero G, Sasaki K, Cortes J, Garris R, Khoury JD, Jorgensen J, Jain N, Alvarez J, O'Brien S, Kantarjian H
Lancet Haematol 2018 Dec;5(12):e618-e627. doi: 10.1016/S2352-3026(18)30176-5. PMID: 30501869Free PMC Article
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet.
Barbui T, Tefferi A, Vannucchi AM, Passamonti F, Silver RT, Hoffman R, Verstovsek S, Mesa R, Kiladjian JJ, Hehlmann R, Reiter A, Cervantes F, Harrison C, Mc Mullin MF, Hasselbalch HC, Koschmieder S, Marchetti M, Bacigalupo A, Finazzi G, Kroeger N, Griesshammer M, Birgegard G, Barosi G
Leukemia 2018 May;32(5):1057-1069. Epub 2018 Feb 27 doi: 10.1038/s41375-018-0077-1. PMID: 29515238Free PMC Article
European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013.
Baccarani M, Deininger MW, Rosti G, Hochhaus A, Soverini S, Apperley JF, Cervantes F, Clark RE, Cortes JE, Guilhot F, Hjorth-Hansen H, Hughes TP, Kantarjian HM, Kim DW, Larson RA, Lipton JH, Mahon FX, Martinelli G, Mayer J, Müller MC, Niederwieser D, Pane F, Radich JP, Rousselot P, Saglio G, Saußele S, Schiffer C, Silver R, Simonsson B, Steegmann JL, Goldman JM, Hehlmann R
Blood 2013 Aug 8;122(6):872-84. Epub 2013 Jun 26 doi: 10.1182/blood-2013-05-501569. PMID: 23803709Free PMC Article

Prognosis

Asciminib vs bosutinib in chronic-phase chronic myeloid leukemia previously treated with at least two tyrosine kinase inhibitors: longer-term follow-up of ASCEMBL.
Hochhaus A, Réa D, Boquimpani C, Minami Y, Cortes JE, Hughes TP, Apperley JF, Lomaia E, Voloshin S, Turkina A, Kim DW, Abdo A, Fogliatto LM, le Coutre P, Sasaki K, Kim DDH, Saussele S, Annunziata M, Chaudhri N, Chee L, García-Gutiérrez V, Kapoor S, Allepuz A, Quenet S, Bédoucha V, Mauro MJ
Leukemia 2023 Mar;37(3):617-626. Epub 2023 Jan 30 doi: 10.1038/s41375-023-01829-9. PMID: 36717654Free PMC Article
Frontline combination of ponatinib and hyper-CVAD in Philadelphia chromosome-positive acute lymphoblastic leukemia: 80-months follow-up results.
Kantarjian H, Short NJ, Jain N, Sasaki K, Huang X, Haddad FG, Khouri I, DiNardo CD, Pemmaraju N, Wierda W, Garcia-Manero G, Kebriaei P, Garris R, Loghavi S, Jorgensen J, Kwari M, O'Brien S, Ravandi F, Jabbour E
Am J Hematol 2023 Mar;98(3):493-501. Epub 2023 Jan 4 doi: 10.1002/ajh.26816. PMID: 36600670
Treatment of Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia.
Abou Dalle I, Jabbour E, Short NJ, Ravandi F
Curr Treat Options Oncol 2019 Jan 24;20(1):4. doi: 10.1007/s11864-019-0603-z. PMID: 30675645Free PMC Article
Combination of hyper-CVAD with ponatinib as first-line therapy for patients with Philadelphia chromosome-positive acute lymphoblastic leukaemia: long-term follow-up of a single-centre, phase 2 study.
Jabbour E, Short NJ, Ravandi F, Huang X, Daver N, DiNardo CD, Konopleva M, Pemmaraju N, Wierda W, Garcia-Manero G, Sasaki K, Cortes J, Garris R, Khoury JD, Jorgensen J, Jain N, Alvarez J, O'Brien S, Kantarjian H
Lancet Haematol 2018 Dec;5(12):e618-e627. doi: 10.1016/S2352-3026(18)30176-5. PMID: 30501869Free PMC Article
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

Treatment of Adults With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia-From Intensive Chemotherapy Combinations to Chemotherapy-Free Regimens: A Review.
Jabbour E, Haddad FG, Short NJ, Kantarjian H
JAMA Oncol 2022 Sep 1;8(9):1340-1348. doi: 10.1001/jamaoncol.2022.2398. PMID: 35834222
Acute Lymphoblastic Leukemia in the Older Adult.
Aldoss I, Forman SJ, Pullarkat V
J Oncol Pract 2019 Feb;15(2):67-75. doi: 10.1200/JOP.18.00271. PMID: 30763199
Treatment of Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia.
Abou Dalle I, Jabbour E, Short NJ, Ravandi F
Curr Treat Options Oncol 2019 Jan 24;20(1):4. doi: 10.1007/s11864-019-0603-z. PMID: 30675645Free PMC Article
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet.
Barbui T, Tefferi A, Vannucchi AM, Passamonti F, Silver RT, Hoffman R, Verstovsek S, Mesa R, Kiladjian JJ, Hehlmann R, Reiter A, Cervantes F, Harrison C, Mc Mullin MF, Hasselbalch HC, Koschmieder S, Marchetti M, Bacigalupo A, Finazzi G, Kroeger N, Griesshammer M, Birgegard G, Barosi G
Leukemia 2018 May;32(5):1057-1069. Epub 2018 Feb 27 doi: 10.1038/s41375-018-0077-1. PMID: 29515238Free PMC Article
Childhood Acute Lymphoblastic Leukemia: Progress Through Collaboration.
Pui CH, Yang JJ, Hunger SP, Pieters R, Schrappe M, Biondi A, Vora A, Baruchel A, Silverman LB, Schmiegelow K, Escherich G, Horibe K, Benoit YC, Izraeli S, Yeoh AE, Liang DC, Downing JR, Evans WE, Relling MV, Mullighan CG
J Clin Oncol 2015 Sep 20;33(27):2938-48. Epub 2015 Aug 24 doi: 10.1200/JCO.2014.59.1636. PMID: 26304874Free PMC Article

Recent systematic reviews

Efficacy of ruxolitinib in acute lymphoblastic leukemia: A systematic review.
Kołodrubiec J, Kozłowska M, Irga-Jaworska N, Sędek Ł, Pastorczak A, Trelińska J, Młynarski W
Leuk Res 2022 Oct;121:106925. Epub 2022 Aug 2 doi: 10.1016/j.leukres.2022.106925. PMID: 35939887
Philadelphia-Like Acute Lymphoblastic Leukemia: A Systematic Review.
Yadav V, Ganesan P, Veeramani R, Kumar V D
Clin Lymphoma Myeloma Leuk 2021 Jan;21(1):e57-e65. Epub 2020 Aug 18 doi: 10.1016/j.clml.2020.08.011. PMID: 33485429
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
Relapse Prevention with Tyrosine Kinase Inhibitors after Allogeneic Transplantation for Philadelphia Chromosome-Positive Acute Lymphoblast Leukemia: A Systematic Review.
Warraich Z, Tenneti P, Thai T, Hubben A, Amin H, McBride A, Warraich S, Hannan A, Warraich F, Majhail N, Kalaycio M, Anwer F
Biol Blood Marrow Transplant 2020 Mar;26(3):e55-e64. Epub 2019 Sep 23 doi: 10.1016/j.bbmt.2019.09.022. PMID: 31557532
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

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