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Acute lymphoblastic leukemia

最后审阅: 20 Mar 2026
最后更新: 06 Jun 2025

小结

定义

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

Divulgaciones

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.

Agradecimientos

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.

Divulgaciones

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

Revisores por pares

Olga Kozyreva, MD

Staff Physician

Department of Hematology and Oncology

New England Medical Center

Tufts University

Boston

MA

Divulgaciones

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

Divulgaciones

SP declares that he has no competing interests.

Agradecimiento de los revisores por pares

Los temas de BMJ Best Practice se actualizan de forma continua de acuerdo con los desarrollos en la evidencia y en las guías. Los revisores por pares listados aquí han revisado el contenido al menos una vez durante la historia del tema.

Divulgaciones

Las afiliaciones y divulgaciones de los revisores por pares se refieren al momento de la revisión.

Referencias

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

Artículos principales

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.Texto completo  Resumen

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.Texto completo  Resumen

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

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.Texto completo  Resumen

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

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
  • Acute lymphoblastic leukemia images
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  • Guías de práctica clínica

    • NCCN practice guidelines in oncology: pediatric acute lymphoblastic leukemia
    • NCCN practice guidelines in oncology: hematopoietic cell transplantation
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  • Folletos para el paciente

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  • Videos

    Diagnostic lumbar puncture in adults: animated demonstration

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