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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.
 
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.
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.
Reduced leukocyte alkaline phosphatase
MedGen UID:
338120
Concept ID:
C1850780
Finding
Decreased alkaline phosphatase measured within leukocytes.

Term Hierarchy

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.
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).

Professional guidelines

PubMed

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
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
Deininger MW, Shah NP, Altman JK, Berman E, Bhatia R, Bhatnagar B, DeAngelo DJ, Gotlib J, Hobbs G, Maness L, Mead M, Metheny L, Mohan S, Moore JO, Naqvi K, Oehler V, Pallera AM, Patnaik M, Pratz K, Pusic I, Rose MG, Smith BD, Snyder DS, Sweet KL, Talpaz M, Thompson J, Yang DT, Gregory KM, Sundar H
J Natl Compr Canc Netw 2020 Oct 1;18(10):1385-1415. doi: 10.6004/jnccn.2020.0047. PMID: 33022644

Curated

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

Recent clinical studies

Etiology

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

Popa G, Blag C, Olteanu H
Pediatr Dev Pathol 2017 Jan-Feb;20(1):58-62. doi: 10.1177/1093526616671047. PMID: 28276292
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
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

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

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
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

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