Chronic myeloid leukemia

概述 
理论 
诊断 
治疗 
随访 
资源 

最后审阅： 16 Aug 2025

最后更新： 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.

定义

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]

病史和体格检查

关键诊断因素

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

完整详情

其他诊断因素

weight loss
excessive sweating
fever
pallor
bruising
retinal hemorrhages

完整详情

危险因素

age 65 to 74 years
ionizing radiation exposure
male sex

完整详情

诊断性检查

首要检查

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)

完整详情

需考虑的检查

mutational analysis

完整详情

治疗流程

急症处理

chronic phase

accelerated phase

撰稿人

作者

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

Declarações

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.

Agradecimentos

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

Declarações

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.

Revisores

Rebecca Connor, MD

Chief Fellow

Section of Hematology and Oncology

Department of Internal Medicine

Wake Forest University Baptist Medical Center

Winston-Salem

Declarações

RC declares that she has no competing interests.

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

Professor of Haematology

Royal Liverpool University Hospital

Liverpool

Declarações

None disclosed.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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

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

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.Texto completo Resumo

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.Texto completo Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais
- Leukemoid reaction
- Benign neutrophilic leukocytosis
- Atypical CML
Mais Diagnósticos diferenciais
Diretrizes
- NCCN clinical practice guidelines in oncology: chronic myeloid leukemia
- NCCN clinical practice guidelines in oncology: hematopoietic cell transplantation (HCT)
Mais Diretrizes
Calculadoras
EUTOS long-term survival (ELTS) score
Sokal score for chronic myeloid leukemia
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Chronic myeloid leukemia

小结

定义

病史和体格检查

关键诊断因素

其他诊断因素

危险因素

诊断性检查

首要检查

需考虑的检查

治疗流程

chronic phase

accelerated phase

撰稿人

作者

Michael J. Mauro, MD

Declarações

Agradecimentos

Declarações

Revisores

Rebecca Connor, MD

Declarações

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

Declarações

Peer reviewer acknowledgements

Disclosures

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

Calculadoras

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se para acessar todo o BMJ Best Practice