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Acute lymphoblastic leukemia

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Última revisão das evidências: 28 Feb 2026
Última atualização do tópico: 06 Jun 2025

Resumo

Definição

病史和体格检查

关键诊断因素

  • lymphadenopathy
  • hepatosplenomegaly
  • pallor, ecchymoses, or petechiae
  • constitutional symptoms (fevers, night sweats, weight loss)
  • recurrent infections
  • fatigue, dizziness, palpitations, and dyspnea
  • bruising, epistaxis, heavy menstrual bleeding
完整详情

其他诊断因素

  • mental status changes, focal neurologic signs/deficits, headache, papilledema, nuchal rigidity, and meningismus
  • renal enlargement
  • bone pain
  • painless unilateral testicular enlargement
  • abdominal pain
  • mediastinal or abdominal mass
  • pleural effusion
  • skin infiltrations
完整详情

危险因素

  • children <5 years of age
  • genetic factors
  • family history of ALL
  • viral infections
  • environmental factors
  • history of malignancy
  • treatment with chemotherapy
  • male sex
  • Hispanic populations
  • folate metabolism polymorphisms
  • poor maternal diet
完整详情

诊断性检查

首要检查

  • CBC with differential
  • peripheral blood smear
  • serum electrolytes
  • serum uric acid
  • serum lactate dehydrogenase (LDH)
  • renal function tests
  • liver function tests
  • coagulation profile
  • bone marrow evaluation (cytomorphology)
  • immunophenotyping
  • cytogenetic analysis (karyotyping and fluorescence in situ hybridization [FISH])
  • molecular testing (reverse transcriptase polymerase chain reaction [RT-PCR])
  • next-generation sequencing (NGS) assay
  • blood group and antibody screening
  • antibody testing for infection
完整详情

需考虑的检查

  • lumbar puncture
  • chest radiograph
  • pleural tap
  • CT/MRI of head
  • CT neck, thorax, abdomen, pelvis
  • scrotal ultrasound
  • baseline measurable residual disease (MRD) testing
  • thiopurine methyltransferase (TPMT) phenotyping
  • nudix hydrolase 15 (NUDT15) phenotyping
  • HLA-typing
  • echocardiogram or multigated acquisition (MUGA) scan
完整详情

治疗流程

急症处理

adolescents and adults: newly diagnosed Ph+ B-ALL

adolescents and adults: newly diagnosed Ph-negative B-ALL or T-ALL

持续性治疗

complete remission: Ph+ B-ALL

complete remission: Ph-negative B-ALL

complete remission: T-ALL

relapsed or refractory disease

撰稿人

作者

Ryan D. Cassaday, MD

Associate Professor

Division of Hematology and Oncology, University of Washington School of Medicine

Clinical Research Division, Fred Hutchinson Cancer Center

Seattle

WA

利益声明

RDC has received research funding from Amgen, Jazz Pharmaceuticals, Incyte, Kite/Gilead, Merck, Pfizer, Servier, and Vanda Pharmaceuticals; honoraria/consulting from Amgen, Jazz, Kite/Gilead, and Pfizer; serves on a board/advisory committee for Autolus and PeproMene Bio; and his spouse has been employed by and owned stock in Seagen. RDC is an author of several articles cited in the topic.

鸣谢

Dr Ryan D. Cassaday would like to gratefully acknowledge Dr Melissa Ooi, Dr Michelle Poon, Dr Esther Chan, Dr Chin Hin Ng, Dr Arati V. Rao, Dr Matthew Smith, Dr Samer Bleibel, and Dr Robert Leonard, previous contributors to this topic.

利益声明

MO, MP, EC, CHN, AVR, MS, SB, and RL declare that they have no competing interests.

同行评议者

Olga Kozyreva, MD

Staff Physician

Department of Hematology and Oncology

New England Medical Center

Tufts University

Boston

MA

利益声明

OK declares that she has no competing interests.

Shankaranarayana Paneesha, MD, MRCP, FRCPath

Consultant Haematologist

Department of Haematology and Stem Cell Transplantation

Heartlands Hospital

Birmingham

UK

利益声明

SP declares that he has no competing interests.

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.

参考文献

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.

关键文献

Alaggio R, Amador C, Anagnostopoulos I, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: lymphoid neoplasms. Leukemia. 2022 Jul;36(7):1720-48.全文  摘要

Arber DA, Orazi A, Hasserjian RP, et al. International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022 Sep 15;140(11):1200-8.全文  摘要

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: acute lymphoblastic leukemia [internet publication].全文

Hoelzer D, Bassan R, Dombret H, et al. Acute lymphoblastic leukaemia in adult patients: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2016 Sep;27(suppl 5):v69-82.全文  摘要

National Comprehensive Cancer Network. NCCN practice guidelines in oncology: pediatric acute lymphoblastic leukemia [internet publication].全文

参考文献

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

  • 指南

    • NCCN practice guidelines in oncology: pediatric acute lymphoblastic leukemia
    • NCCN practice guidelines in oncology: hematopoietic cell transplantation
    更多 指南

  • 患者教育信息

    Leukemia (acute lymphocytic)

    更多 患者教育信息

  • Videos

    Diagnostic lumbar puncture in adults: animated demonstration

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