Chronic myeloid leukemia

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 14 Apr 2025

Last updated: 29 Nov 2024

Chronic myeloid leukemia (CML) may be asymptomatic at presentation in approximately 50% of patients. Symptoms, if present, typically include malaise, fever, weight loss, abdominal discomfort, and night sweats.

Splenomegaly is the most common physical finding; nearly all patients will have elevated WBC count.

Presence of Philadelphia chromosome and/or molecular demonstration of the BCR::ABL1 transcript confirms diagnosis.

Treatment with a tyrosine kinase inhibitor (TKI) gives long-term remission without significant adverse events in most patients.

Treatment-free remission may be attempted for select patients, and thus functional cure after TKI therapy is feasible.

Definition

CML is a malignant clonal disorder of the hematopoietic stem cell that results in marked myeloid hyperplasia of the bone marrow.[1] Dysregulation of hematopoiesis arises due to a BCR::ABL1 fusion gene that causes an abnormal expansion of myeloid cells in the bone marrow and peripheral blood. The "chronic" phase of the disease may transform to an "accelerated" or "blast" phase in 5% to 10% of patients despite treatment with a tyrosine kinase inhibitor, the blast phase resulting in acute myeloid or acute lymphoblastic leukemia.[2][3]

History and exam

Key diagnostic factors

splenomegaly
shortness of breath
left upper quadrant discomfort or fullness
epistaxis
arthralgia
sternal tenderness

Full details

Other diagnostic factors

weight loss
excessive sweating
fever
pallor
bruising
retinal hemorrhages

Full details

Risk factors

age 65 to 74 years
ionizing radiation exposure
male sex

Full details

Diagnostic tests

1st tests to order

CBC
complete metabolic profile
peripheral blood smear
bone marrow aspirate and biopsy for cytogenetic analysis
quantitative reverse transcription PCR (qRT-PCR) including breakpoint analysis
fluorescence in situ hybridization (FISH)

Full details

Tests to consider

mutational analysis

Full details

Treatment algorithm

ACUTE

chronic phase

accelerated phase

Contributors

Authors

Michael J. Mauro, MD

Leader, Myeloproliferative Neoplasms Program, Leukemia Service

Attending Physician and Member

Memorial Sloan Kettering Cancer Center

Professor, Weill Cornell Medicine

New York

Disclosures

MJM has received institutional research support for clinical trials from Novartis, Bristol Myers Squibb, Takeda, and Sun Pharma/Sparc, and honoraria for consulting/advisory boards from Novartis, Bristol Myers Squibb, Takeda, and Pfizer.

Acknowledgements

Dr Michael Mauro would like to gratefully acknowledge Dr Tim Somervaille, Dr Han Myint, and Dr Robert Chen, the previous contributors to this topic.

Disclosures

TS has received travel support and speaker expenses from Novartis, and has served as a consultant to Novartis for development of drugs for indications other than CML. HM sits on the advisory board of Novartis and Bristol Myers Squibb, and also does speaking engagements on their behalf. RC declares that he has no competing interests.

Peer reviewers

Rebecca Connor, MD

Chief Fellow

Section of Hematology and Oncology

Department of Internal Medicine

Wake Forest University Baptist Medical Center

Winston-Salem

Disclosures

RC declares that she has no competing interests.

Richard E. Clark, MA, MD, FRCP, FRCPath

Professor of Haematology

Royal Liverpool University Hospital

Liverpool

Disclosures

None disclosed.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: chronic myeloid leukemia [internet publication].Full text

Hochhaus A, Baccarani M, Silver RT, et al. European LeukemiaNet 2020 recommendations for treating chronic myeloid leukemia. Leukemia. 2020 Apr;34(4):966-84.Full text Abstract

Hochhaus A, Saussele S, Rosti G, et al. Chronic myeloid leukaemia: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2017 Jul 1;28(Suppl 4):iv41-51.Full text Abstract

Smith G, Apperley J, Milojkovic D, et al. A British Society for Haematology guideline on the diagnosis and management of chronic myeloid leukaemia. Br J Haematol. 2020 Oct;191(2):171-93.Full text Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

Differentials
- Leukemoid reaction
- Benign neutrophilic leukocytosis
- Atypical CML
More Differentials
Guidelines
- NCCN clinical practice guidelines in oncology: chronic myeloid leukemia
- NCCN clinical practice guidelines in oncology: hematopoietic cell transplantation (HCT)
More Guidelines
Calculators
EUTOS long-term survival (ELTS) score
Sokal score for chronic myeloid leukemia
More Calculators
Log in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer

Chronic myeloid leukemia

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic tests

1st tests to order

Tests to consider

Treatment algorithm

chronic phase

accelerated phase

Contributors

Authors

Michael J. Mauro, MD

Disclosures

Acknowledgements

Disclosures

Peer reviewers

Rebecca Connor, MD

Disclosures

Richard E. Clark, MA, MD, FRCP, FRCPath

Disclosures

References

Key articles

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

Differentials

Guidelines

Calculators

Log in or subscribe to access all of BMJ Best Practice

Log in or subscribe to access all of BMJ Best Practice

Log in to access all of BMJ Best Practice