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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
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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
Management of Chronic Myeloid Leukemia in Children and Young Adults.
Ford M, Mauro M, Aftandilian C, Sakamoto KM, Hijiya N
Curr Hematol Malig Rep 2022 Oct;17(5):121-126. Epub 2022 Aug 3 doi: 10.1007/s11899-022-00673-5. PMID: 35920965Free 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

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.
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      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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