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Chronic Myeloid Leukemia, Philadelphia Chromosome Negative, BCR-ABL1 Positive

MedGen UID:
79004
•Concept ID:
C0279549
•
Neoplastic Process
Synonyms: Chronic Myeloid Leukemia, Philadelphia Chromosome Negative, BCR::ABL1 Positive; 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; 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 myeloid 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  
  • CROGVChronic Myeloid Leukemia, Philadelphia Chromosome Negative, BCR-ABL1 Positive

Professional guidelines

PubMed

Olverembatinib Treatment in Pediatric Patients With Relapsed Philadelphia-Chromosome-Positive Acute Lymphoblastic Leukemia.
Li X, Zhang J, Liu F, Liu T, Zhang R, Chen Y, Guo Y, Fang Y, Xu X, Pui CH, Zhu X
Clin Lymphoma Myeloma Leuk 2023 Sep;23(9):660-666. Epub 2023 May 11 doi: 10.1016/j.clml.2023.04.012. PMID: 37301632
Hierarchical distribution of somatic variants in newly diagnosed chronic myeloid leukaemia at diagnosis and early follow-up.
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
Chronic myeloid leukemia: cytogenetic methods and applications for diagnosis and treatment.
Morris CM
Methods Mol Biol 2011;730:33-61. doi: 10.1007/978-1-61779-074-4_4. PMID: 21431633

Recent clinical studies

Etiology

FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions.
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
De novo lymphoid blastic phase chronic myeloid leukemia: report and contemporary discussion.
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
Hierarchical distribution of somatic variants in newly diagnosed chronic myeloid leukaemia at diagnosis and early follow-up.
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
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
Differentiation status of primary chronic myeloid leukemia cells affects sensitivity to BCR-ABL1 inhibitors.
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

Diagnosis

FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions.
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
Distinguishing atypical chronic myeloid leukemia from other Philadelphia-negative chronic myeloproliferative neoplasms.
Sadigh S, Hasserjian RP, Hobbs G
Curr Opin Hematol 2020 Mar;27(2):122-127. doi: 10.1097/MOH.0000000000000565. PMID: 31904665
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
Bosutinib Versus Imatinib for Newly Diagnosed Chronic Myeloid Leukemia: Results From the Randomized BFORE Trial.
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
Acute Myeloid Leukemia and Other Types of Disease Progression in Myeloproliferative Neoplasms.
Czader M, Orazi A
Am J Clin Pathol 2015 Aug;144(2):188-206. doi: 10.1309/AJCPZQK40JOZZZCC. PMID: 26185305

Therapy

Olverembatinib Treatment in Pediatric Patients With Relapsed Philadelphia-Chromosome-Positive Acute Lymphoblastic Leukemia.
Li X, Zhang J, Liu F, Liu T, Zhang R, Chen Y, Guo Y, Fang Y, Xu X, Pui CH, Zhu X
Clin Lymphoma Myeloma Leuk 2023 Sep;23(9):660-666. Epub 2023 May 11 doi: 10.1016/j.clml.2023.04.012. PMID: 37301632
Targeting Abnormal Hematopoietic Stem Cells in Chronic Myeloid Leukemia and Philadelphia Chromosome-Negative Classical Myeloproliferative Neoplasms.
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
Philadelphia+ Chronic Myeloid Leukemia with CALR Mutation: A Case Report and Literature Review.
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
Bosutinib Versus Imatinib for Newly Diagnosed Chronic Myeloid Leukemia: Results From the Randomized BFORE Trial.
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
Nilotinib first-line therapy in patients with Philadelphia chromosome-negative/BCR-ABL-positive chronic myeloid leukemia in chronic phase: ENEST1st sub-analysis.
Hochhaus A, Mahon FX, le Coutre P, Petrov L, Janssen JJWM, Cross NCP, Rea D, Castagnetti F, Hellmann A, Rosti G, Gattermann N, Coronel MLP, Gutierrez MAE, Garcia-Gutierrez V, Vincenzi B, Dezzani L, Giles FJ
J Cancer Res Clin Oncol 2017 Jul;143(7):1225-1233. Epub 2017 Feb 21 doi: 10.1007/s00432-017-2359-9. PMID: 28224300Free PMC Article

Prognosis

Hierarchical distribution of somatic variants in newly diagnosed chronic myeloid leukaemia at diagnosis and early follow-up.
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
Philadelphia+ Chronic Myeloid Leukemia with CALR Mutation: A Case Report and Literature Review.
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
Distinguishing atypical chronic myeloid leukemia from other Philadelphia-negative chronic myeloproliferative neoplasms.
Sadigh S, Hasserjian RP, Hobbs G
Curr Opin Hematol 2020 Mar;27(2):122-127. doi: 10.1097/MOH.0000000000000565. PMID: 31904665
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
Chronic myeloid leukemia: cytogenetic methods and applications for diagnosis and treatment.
Morris CM
Methods Mol Biol 2011;730:33-61. doi: 10.1007/978-1-61779-074-4_4. PMID: 21431633

Clinical prediction guides

Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization.
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
Saudi Arabian CML patient with a novel four-way translocation at t(9;22;5;2)(q34;q11.2;p13;q44).
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
Philadelphia+ Chronic Myeloid Leukemia with CALR Mutation: A Case Report and Literature Review.
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
The impact of additional cytogenetic abnormalities at diagnosis and during therapy with tyrosine kinase inhibitors in Chronic Myeloid Leukaemia.
Crisan AM, Coriu D, Arion C, Colita A, Jardan C
J Med Life 2015 Oct-Dec;8(4):502-8. PMID: 26664479Free PMC Article
Prospective monitoring of BCR-ABL1 transcript levels in patients with Philadelphia chromosome-positive acute lymphoblastic leukaemia undergoing imatinib-combined chemotherapy.
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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