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Acute myeloid leukemia with BCR-ABL1

MedGen UID:
1377153
•Concept ID:
C4329268
•
Neoplastic Process
Synonyms: acute myeloid leukaemia with t(9;22)(q34.1;q11.2); Acute Myeloid Leukemia with BCR-ABL1; acute myeloid leukemia with BCR-ABL1; Acute Myeloid Leukemia with BCR-ABL1 Fusion; Acute Myeloid Leukemia with BCR::ABL1; Acute myeloid leukemia with BCR::ABL1 fusion; Acute Myeloid Leukemia with BCR::ABL1 Fusion; Acute myeloid leukemia with t(9;22)(q34.1;q11.2); acute myeloid leukemia with t(9;22)(q34.1;q11.2); AML with BCR-ABL1; AML with t(9;22)(q34.1;q11.2)
SNOMED CT: Acute myeloid leukemia with BCR-ABL1 (783017000); Acute myeloid leukemia with BCR-ABL1 (1237368006); Acute myeloid leukemia with t(9;22)(q34.1;q11.2) (1237368006); Acute myeloid leukemia with BCR::ABL1 fusion (783017000)
 
Monarch Initiative: MONDO:0035112
Orphanet: ORPHA585867

Definition

A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute myeloid leukemia with BCR-ABL1

Professional guidelines

PubMed

Acute erythroid leukemia with TP53 mutation and BCR/ABL1: challenges in classification and management.
Marra JD, Frioni F, Minnella G, Rossi M, Malara T, Bellesi S, Maiolo E, Orteschi D, Galli E, Bacigalupo A, Pagano L, Sica S, Zini G, Chiusolo P
Ann Hematol 2024 Mar;103(3):1013-1014. Epub 2023 Nov 29 doi: 10.1007/s00277-023-05561-3. PMID: 38017337
Novel precision medicine approaches and treatment strategies in hematological malignancies.
Rosenquist R, Bernard E, Erkers T, Scott DW, Itzykson R, Rousselot P, Soulier J, Hutchings M, Östling P, Cavelier L, Fioretos T, Smedby KE
J Intern Med 2023 Oct;294(4):413-436. Epub 2023 Aug 7 doi: 10.1111/joim.13697. PMID: 37424223
Mixed-Phenotype Acute Leukemia: Diagnostic Criteria and Pitfalls.
Charles NJ, Boyer DF
Arch Pathol Lab Med 2017 Nov;141(11):1462-1468. doi: 10.5858/arpa.2017-0218-RA. PMID: 29072953

Recent clinical studies

Etiology

Chronic Myeloid Leukemia in Children and Adolescents.
Gotesman M, Raheel S, Panosyan EH
Adv Pediatr 2023 Aug;70(1):145-155. Epub 2023 May 12 doi: 10.1016/j.yapd.2023.04.002. PMID: 37422292
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
The evolution of acute lymphoblastic leukemia research and therapy at MD Anderson over four decades.
Jabbour E, Short NJ, Jain N, Haddad FG, Welch MA, Ravandi F, Kantarjian H
J Hematol Oncol 2023 Mar 16;16(1):22. doi: 10.1186/s13045-023-01409-5. PMID: 36927623Free PMC Article
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
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

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
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: 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
Mixed-Phenotype Acute Leukemia: Diagnostic Criteria and Pitfalls.
Charles NJ, Boyer DF
Arch Pathol Lab Med 2017 Nov;141(11):1462-1468. doi: 10.5858/arpa.2017-0218-RA. PMID: 29072953
Genomics of Acute Myeloid Leukemia Diagnosis and Pathways.
Bullinger L, Döhner K, Döhner H
J Clin Oncol 2017 Mar 20;35(9):934-946. Epub 2017 Feb 13 doi: 10.1200/JCO.2016.71.2208. PMID: 28297624

Therapy

Chronic Myeloid Leukemia in Children and Adolescents.
Gotesman M, Raheel S, Panosyan EH
Adv Pediatr 2023 Aug;70(1):145-155. Epub 2023 May 12 doi: 10.1016/j.yapd.2023.04.002. PMID: 37422292
The evolution of acute lymphoblastic leukemia research and therapy at MD Anderson over four decades.
Jabbour E, Short NJ, Jain N, Haddad FG, Welch MA, Ravandi F, Kantarjian H
J Hematol Oncol 2023 Mar 16;16(1):22. doi: 10.1186/s13045-023-01409-5. PMID: 36927623Free PMC Article
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: 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
Response and Resistance to BCR-ABL1-Targeted Therapies.
Braun TP, Eide CA, Druker BJ
Cancer Cell 2020 Apr 13;37(4):530-542. doi: 10.1016/j.ccell.2020.03.006. PMID: 32289275Free PMC Article

Prognosis

Novel precision medicine approaches and treatment strategies in hematological malignancies.
Rosenquist R, Bernard E, Erkers T, Scott DW, Itzykson R, Rousselot P, Soulier J, Hutchings M, Östling P, Cavelier L, Fioretos T, Smedby KE
J Intern Med 2023 Oct;294(4):413-436. Epub 2023 Aug 7 doi: 10.1111/joim.13697. PMID: 37424223
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
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
Mixed-Phenotype Acute Leukemia: Diagnostic Criteria and Pitfalls.
Charles NJ, Boyer DF
Arch Pathol Lab Med 2017 Nov;141(11):1462-1468. doi: 10.5858/arpa.2017-0218-RA. PMID: 29072953
Diagnosis and classification of hematologic malignancies on the basis of genetics.
Taylor J, Xiao W, Abdel-Wahab O
Blood 2017 Jul 27;130(4):410-423. Epub 2017 Jun 9 doi: 10.1182/blood-2017-02-734541. PMID: 28600336Free PMC Article

Clinical prediction guides

Developmental trajectories and cooperating genomic events define molecular subtypes of BCR::ABL1-positive ALL.
Bastian L, Beder T, Barz MJ, Bendig S, Bartsch L, Walter W, Wolgast N, Brändl B, Rohrandt C, Hansen BT, Hartmann AM, Iben K, Das Gupta D, Denker M, Zimmermann J, Wittig M, Chitadze G, Neumann M, Schneller F, Fiedler W, Steffen B, Stelljes M, Faul C, Schwartz S, Müller FJ, Cario G, Harder L, Haferlach C, Pfeifer H, Gökbuget N, Brüggemann M, Baldus CD
Blood 2024 Apr 4;143(14):1391-1398. doi: 10.1182/blood.2023021752. PMID: 38153913Free PMC Article
Novel precision medicine approaches and treatment strategies in hematological malignancies.
Rosenquist R, Bernard E, Erkers T, Scott DW, Itzykson R, Rousselot P, Soulier J, Hutchings M, Östling P, Cavelier L, Fioretos T, Smedby KE
J Intern Med 2023 Oct;294(4):413-436. Epub 2023 Aug 7 doi: 10.1111/joim.13697. PMID: 37424223
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
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
The allosteric inhibitor ABL001 enables dual targeting of BCR-ABL1.
Wylie AA, Schoepfer J, Jahnke W, Cowan-Jacob SW, Loo A, Furet P, Marzinzik AL, Pelle X, Donovan J, Zhu W, Buonamici S, Hassan AQ, Lombardo F, Iyer V, Palmer M, Berellini G, Dodd S, Thohan S, Bitter H, Branford S, Ross DM, Hughes TP, Petruzzelli L, Vanasse KG, Warmuth M, Hofmann F, Keen NJ, Sellers WR
Nature 2017 Mar 30;543(7647):733-737. Epub 2017 Mar 22 doi: 10.1038/nature21702. PMID: 28329763

Recent systematic reviews

Systematic Review of Normal Subjects Harbouring BCR-ABL1 Fusion Gene.
Kuan JW, Su AT, Leong CF, Osato M, Sashida G
Acta Haematol 2020;143(2):96-111. Epub 2019 Aug 9 doi: 10.1159/000501146. PMID: 31401626

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