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Chronic myelogenous leukemia, BCR-ABL1 positive(CML)

MedGen UID:
75993
•Concept ID:
C0279543
•
Neoplastic Process
Synonyms: Chronic granulocytic leukemia; Chronic myelogenous leukemia; Chronic myeloid leukemia; CML; Familial Chronic Myelocytic Leukemia
SNOMED CT: CGL - Chronic granulocytic leukemia (92818009); CML - Chronic myeloid leukemia (92818009); Chronic myeloid leukemia (92818009); Chronic myeloid leukemia, disease (92818009); Chronic myelocytic leukemia (92818009); Chronic myelocytic leukemia (1162588009); Chronic granulocytic leukemia (1162588009); Chronic myeloid leukemia (1162588009); Chronic myelogenous leukemia (1162588009); Philadelphia chromosome positive chronic myelogenous leukemia (92818009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Genes (locations): ABL1 (9q34.12); BCR (22q11.23)
 
HPO: HP:0005506
Monarch Initiative: MONDO:0011996
OMIM®: 608232
Orphanet: ORPHA521

Definition

A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. [from HPO]

Clinical features

From HPO
Chronic myelogenous leukemia, BCR-ABL1 positive
MedGen UID:
75993
•Concept ID:
C0279543
•
Neoplastic Process
A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.
See: Feature record | Search on this feature
Ph-positive acute lymphoblastic leukemia
MedGen UID:
313581
•Concept ID:
C1709527
•
Neoplastic Process
A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.
See: Feature record | Search on this feature
Reduced leukocyte alkaline phosphatase
MedGen UID:
338120
•Concept ID:
C1850780
•
Finding
Decreased alkaline phosphatase measured within leukocytes.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic myelogenous leukemia, BCR-ABL1 positive

Conditions with this feature

Chronic myelogenous leukemia, BCR-ABL1 positive
MedGen UID:
75993
•Concept ID:
C0279543
•
Neoplastic Process
A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.
See: Condition Record
Familial chronic myelocytic leukemia-like syndrome
MedGen UID:
325075
•Concept ID:
C1838670
•
Neoplastic Process
A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).
See: Condition Record
Chronic myelogenous leukemia, BCR-ABL1 positive
Familial chronic myelocytic leukemia-like syndrome

Professional guidelines

PubMed

Management of chronic myeloid leukemia in 2023 - common ground and common sense.
Senapati J, Sasaki K, Issa GC, Lipton JH, Radich JP, Jabbour E, Kantarjian HM
Blood Cancer J 2023 Apr 24;13(1):58. doi: 10.1038/s41408-023-00823-9. PMID: 37088793Free PMC Article
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
Guidelines for the treatment of chronic myeloid leukemia from the NCCN and ELN: differences and similarities.
Narlı Özdemir Z, Kılıçaslan NA, Yılmaz M, Eşkazan AE
Int J Hematol 2023 Jan;117(1):3-15. Epub 2022 Sep 5 doi: 10.1007/s12185-022-03446-1. PMID: 36064839

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Chronic Myeloid Leukemia, 2023

Recent clinical studies

Etiology

The prognostic significance of an inv(3)(q21q26.2) in addition to a t(9;22)(q34;q11.2) in patients treated with tyrosine kinase inhibitors.
Theil KS, Cotta CV
Cancer Genet 2014 May;207(5):171-6. Epub 2014 May 21 doi: 10.1016/j.cancergen.2014.05.006. PMID: 25027637

Diagnosis

Chronic Myelogenous Leukemia Presenting as a Secondary Malignancy After BCR-ABL1-negative B-lymphoblastic Leukemia/Lymphoma in a Pediatric Patient.
Popa G, Blag C, Olteanu H
Pediatr Dev Pathol 2017 Jan-Feb;20(1):58-62. doi: 10.1177/1093526616671047. PMID: 28276292
The prognostic significance of an inv(3)(q21q26.2) in addition to a t(9;22)(q34;q11.2) in patients treated with tyrosine kinase inhibitors.
Theil KS, Cotta CV
Cancer Genet 2014 May;207(5):171-6. Epub 2014 May 21 doi: 10.1016/j.cancergen.2014.05.006. PMID: 25027637
Heterogeneity of molecular markers in chronic myelomonocytic leukemia: a disease associated with several gene alterations.
Bastie JN, Aucagne R, Droin N, Solary E, Delva L
Cell Mol Life Sci 2012 Sep;69(17):2853-61. Epub 2012 Mar 14 doi: 10.1007/s00018-012-0956-y. PMID: 22415325

Therapy

The prognostic significance of an inv(3)(q21q26.2) in addition to a t(9;22)(q34;q11.2) in patients treated with tyrosine kinase inhibitors.
Theil KS, Cotta CV
Cancer Genet 2014 May;207(5):171-6. Epub 2014 May 21 doi: 10.1016/j.cancergen.2014.05.006. PMID: 25027637

Prognosis

The prognostic significance of an inv(3)(q21q26.2) in addition to a t(9;22)(q34;q11.2) in patients treated with tyrosine kinase inhibitors.
Theil KS, Cotta CV
Cancer Genet 2014 May;207(5):171-6. Epub 2014 May 21 doi: 10.1016/j.cancergen.2014.05.006. PMID: 25027637
Heterogeneity of molecular markers in chronic myelomonocytic leukemia: a disease associated with several gene alterations.
Bastie JN, Aucagne R, Droin N, Solary E, Delva L
Cell Mol Life Sci 2012 Sep;69(17):2853-61. Epub 2012 Mar 14 doi: 10.1007/s00018-012-0956-y. PMID: 22415325

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Chronic Myeloid Leukemia, 2023

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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