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Philadelphia Chromosome Negative, BCR-ABL1 Positive Chronic Myelogenous Leukemia

MedGen UID:
79004
Concept ID:
C0279549
Neoplastic Process
Synonyms: Myelodysplastic-myeloproliferative neoplasm with neutrophilia; Myelodysplastic/myeloproliferative neoplasm with neutrophilia; Ph Negative Chronic Myelogenous Leukemia; Ph' Chromosome Negative Chronic Granulocytic Leukemia; Ph' Chromosome Negative Chronic Myelocytic Leukemia; Ph' Chromosome Negative Chronic Myeloid Leukemia; Ph' Negative Chronic Granulocytic Leukemia; Ph- Chronic Myelogenous Leukemia; Ph1 Chromosome Negative Chronic Myelocytic Leukemia; Ph1 Chromosome Negative Chronic Myelogenous Leukemia; Philadelphia Chromosome Negative BCR-ABL1 Positive Chronic Myelogenous Leukemia; Philadelphia Chromosome Negative Chronic Granulocytic Leukemia; Philadelphia Chromosome Negative Chronic Myelocytic Leukemia; Philadelphia Chromosome Negative Chronic Myelogenous Leukemia; Philadelphia Chromosome Negative Chronic Myeloid Leukemia; Philadelphia Chromosome Negative, BCR::ABL1 Positive Chronic Myelogenous Leukemia
SNOMED CT: Myelodysplastic-myeloproliferative neoplasm with neutrophilia (277589003); Myelodysplastic/myeloproliferative neoplasm with neutrophilia (277589003)

Definition

A chronic myelogenous leukemia which does not have the characteristic t(9;22)(q34;q11.2) translocation but it has either a variant translocation or a cryptic translocation that can not be detected by conventional cytogenetic analysis. In such cases the BCR-ABL1 fusion gene is always detected by RT-PCR, FISH, or Southern blot analysis. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Romzova M, Smitalova D, Hynst J, Tom N, Loja T, Herudkova Z, Jurcek T, Stejskal L, Zackova D, Mayer J, Racil Z, Culen M
Br J Haematol 2021 Aug;194(3):604-612. Epub 2021 Jul 1 doi: 10.1111/bjh.17659. PMID: 34212373
Konuma T, Kohara C, Watanabe E, Mizukami M, Nagai E, Tanoue S, Isobe M, Jimbo K, Kato S, Ohno N, Takahashi S, Tojo A
Hematol Oncol 2018 Apr;36(2):451-456. Epub 2018 Feb 12 doi: 10.1002/hon.2497. PMID: 29431866
Morris CM
Methods Mol Biol 2011;730:33-61. doi: 10.1007/978-1-61779-074-4_4. PMID: 21431633

Recent clinical studies

Etiology

May PC, Reid AG, Robinson ME, Khorashad JS, Milojkovic D, Claudiani S; Genomics England Research Consortium, Willis F, Apperley JF, Innes AJ
BMC Med Genomics 2023 Jul 26;16(1):172. doi: 10.1186/s12920-023-01607-7. PMID: 37496024Free PMC Article
Hameed M, Alnoamani M, Marei M, Tailor I, Alshehri H, Tashkandi SA, Alswayyed A, Alrajhi AM, Zaidi SZA, Motabi I, AlShehry N, Alfayez M
Hematology 2022 Dec;27(1):1259-1262. doi: 10.1080/16078454.2022.2150386. PMID: 36448578
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
Pietarinen PO, Eide CA, Ayuda-Durán P, Potdar S, Kuusanmäki H, Andersson EI, Mpindi JP, Pemovska T, Kontro M, Heckman CA, Kallioniemi O, Wennerberg K, Hjorth-Hansen H, Druker BJ, Enserink JM, Tyner JW, Mustjoki S, Porkka K
Oncotarget 2017 Apr 4;8(14):22606-22615. doi: 10.18632/oncotarget.15146. PMID: 28186983Free PMC Article
Morris CM
Methods Mol Biol 2011;730:33-61. doi: 10.1007/978-1-61779-074-4_4. PMID: 21431633

Diagnosis

May PC, Reid AG, Robinson ME, Khorashad JS, Milojkovic D, Claudiani S; Genomics England Research Consortium, Willis F, Apperley JF, Innes AJ
BMC Med Genomics 2023 Jul 26;16(1):172. doi: 10.1186/s12920-023-01607-7. PMID: 37496024Free PMC Article
Yoon SY, Jeong SY, Kim C, Lee MY, Kim J, Kim KH, Lee N, Won JH
Cancer Res Treat 2020 Jul;52(3):987-991. Epub 2020 Jan 15 doi: 10.4143/crt.2019.703. PMID: 32019282Free PMC Article
Sadigh S, Hasserjian RP, Hobbs G
Curr Opin Hematol 2020 Mar;27(2):122-127. doi: 10.1097/MOH.0000000000000565. PMID: 31904665
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
Cortes JE, Gambacorti-Passerini C, Deininger MW, Mauro MJ, Chuah C, Kim DW, Dyagil I, Glushko N, Milojkovic D, le Coutre P, Garcia-Gutierrez V, Reilly L, Jeynes-Ellis A, Leip E, Bardy-Bouxin N, Hochhaus A, Brümmendorf TH
J Clin Oncol 2018 Jan 20;36(3):231-237. Epub 2017 Nov 1 doi: 10.1200/JCO.2017.74.7162. PMID: 29091516Free PMC Article

Therapy

Yung Y, Lee E, Chu HT, Yip PK, Gill H
Int J Mol Sci 2021 Jan 11;22(2) doi: 10.3390/ijms22020659. PMID: 33440869Free PMC Article
Hochhaus A, Gambacorti-Passerini C, Abboud C, Gjertsen BT, Brümmendorf TH, Smith BD, Ernst T, Giraldo-Castellano P, Olsson-Strömberg U, Saussele S, Bardy-Bouxin N, Viqueira A, Leip E, Russell-Smith TA, Leone J, Rosti G, Watts J, Giles FJ; BYOND Study Investigators
Leukemia 2020 Aug;34(8):2125-2137. Epub 2020 Jun 22 doi: 10.1038/s41375-020-0915-9. PMID: 32572189Free PMC Article
Yoon SY, Jeong SY, Kim C, Lee MY, Kim J, Kim KH, Lee N, Won JH
Cancer Res Treat 2020 Jul;52(3):987-991. Epub 2020 Jan 15 doi: 10.4143/crt.2019.703. PMID: 32019282Free PMC Article
Konuma T, Kohara C, Watanabe E, Mizukami M, Nagai E, Tanoue S, Isobe M, Jimbo K, Kato S, Ohno N, Takahashi S, Tojo A
Hematol Oncol 2018 Apr;36(2):451-456. Epub 2018 Feb 12 doi: 10.1002/hon.2497. PMID: 29431866
Cortes JE, Gambacorti-Passerini C, Deininger MW, Mauro MJ, Chuah C, Kim DW, Dyagil I, Glushko N, Milojkovic D, le Coutre P, Garcia-Gutierrez V, Reilly L, Jeynes-Ellis A, Leip E, Bardy-Bouxin N, Hochhaus A, Brümmendorf TH
J Clin Oncol 2018 Jan 20;36(3):231-237. Epub 2017 Nov 1 doi: 10.1200/JCO.2017.74.7162. PMID: 29091516Free PMC Article

Prognosis

Dridi W, Kanfar S, Sleiman PMA, Liu Y, Hakonarson H, Rammah H, Matrouk A
Mol Genet Genomic Med 2022 Jun;10(6):e1865. Epub 2022 May 11 doi: 10.1002/mgg3.1865. PMID: 35543309Free PMC Article
Yoon SY, Jeong SY, Kim C, Lee MY, Kim J, Kim KH, Lee N, Won JH
Cancer Res Treat 2020 Jul;52(3):987-991. Epub 2020 Jan 15 doi: 10.4143/crt.2019.703. PMID: 32019282Free PMC Article
Sadigh S, Hasserjian RP, Hobbs G
Curr Opin Hematol 2020 Mar;27(2):122-127. doi: 10.1097/MOH.0000000000000565. PMID: 31904665
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
Morris CM
Methods Mol Biol 2011;730:33-61. doi: 10.1007/978-1-61779-074-4_4. PMID: 21431633

Clinical prediction guides

L'Abbate A, Moretti V, Pungolino E, Micheloni G, Valli R, Frattini A, Barcella M, Acquati F, Reinbold RA, Costantino L, Ferrara F, Trojani A, Ventura M, Porta G, Cairoli R
Genes (Basel) 2023 Jun 27;14(7) doi: 10.3390/genes14071351. PMID: 37510256Free PMC Article
Dridi W, Kanfar S, Sleiman PMA, Liu Y, Hakonarson H, Rammah H, Matrouk A
Mol Genet Genomic Med 2022 Jun;10(6):e1865. Epub 2022 May 11 doi: 10.1002/mgg3.1865. PMID: 35543309Free PMC Article
Yoon SY, Jeong SY, Kim C, Lee MY, Kim J, Kim KH, Lee N, Won JH
Cancer Res Treat 2020 Jul;52(3):987-991. Epub 2020 Jan 15 doi: 10.4143/crt.2019.703. PMID: 32019282Free PMC Article
Liu P, Lin Z, Qian S, Qiao C, Qiu H, Wu Y, Li J, Ge Z
Ann Hematol 2012 Jul;91(7):1039-49. Epub 2012 Feb 11 doi: 10.1007/s00277-012-1415-4. PMID: 22323189
Yanada M, Sugiura I, Takeuchi J, Akiyama H, Maruta A, Ueda Y, Usui N, Yagasaki F, Yujiri T, Takeuchi M, Nishii K, Kimura Y, Miyawaki S, Narimatsu H, Miyazaki Y, Ohtake S, Jinnai I, Matsuo K, Naoe T, Ohno R; Japan Adult Leukemia Study Group
Br J Haematol 2008 Nov;143(4):503-10. doi: 10.1111/j.1365-2141.2008.07377.x. PMID: 18986386

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