Acute lymphoblastic leukemia

Last reviewed: 29 Dec 2022
Last updated: 19 Dec 2022

Summary

Definition

History and exam

Key diagnostic factors

  • lymphadenopathy
  • hepatosplenomegaly
  • pallor, ecchymoses, or petechiae
  • fever
  • fatigue, dizziness, palpitations, and dyspnea
  • bruising, epistaxis, menorrhagia
More key diagnostic factors

Other diagnostic factors

  • focal neurologic signs, papilledema, nuchal rigidity, and meningismus
  • renal enlargement
  • bone pain
  • painless unilateral testicular enlargement
  • abdominal pain
  • mediastinal or abdominal mass
  • pleural effusion
  • skin infiltrations
Other diagnostic factors

Risk factors

  • children less than 5 years of age
  • genetic factors
  • family history of ALL
  • viruses
  • environmental factors
  • history of malignancy
  • treatment with chemotherapy
  • male sex
  • Hispanic populations
  • folate metabolism polymorphisms
  • poor maternal diet
More risk factors

Diagnostic investigations

1st investigations to order

  • CBC with differential
  • peripheral blood smear
  • serum electrolytes
  • serum uric acid
  • lactate dehydrogenase (LDH)
  • renal function tests
  • liver function tests
  • coagulation profile
  • bone marrow aspiration and trephine biopsy
  • immunophenotyping (on bone marrow, or peripheral blood if circulating blasts are present)
  • cytogenetic analysis
  • molecular studies
  • blood group and antibody screening
  • antibody testing for infection
More 1st investigations to order

Investigations to consider

  • thiopurine methyltransferase (TPMT) phenotyping
  • nudix hydrolase 15 (NUDT15) phenotyping
  • HLA-typing
  • chest radiograph
  • lumbar puncture (LP)
  • pleural tap
  • CT/MRI brain
  • CT chest
  • scrotal ultrasound
  • baseline measurable residual disease testing
More investigations to consider

Treatment algorithm

ACUTE

adolescents and adults: newly diagnosed ALL without CNS disease

adolescents and adults: newly diagnosed ALL with CNS disease

ONGOING

complete remission: standard risk

complete remission: high risk

relapsed or refractory disease

Contributors

Authors

Ryan D. Cassaday, MD

Associate Professor

Division of Hematology, University of Washington School of Medicine

Clinical Research Division, Fred Hutchinson Cancer Center

Seattle

WA

Disclosures

RDC has received research funding from Amgen, 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.

Acknowledgements

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.

Disclosures

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

Peer reviewers

Olga Kozyreva, MD

Staff Physician

Department of Hematology and Oncology

New England Medical Center

Tufts University

Boston

MA

Disclosures

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

Disclosures

SP declares that he has no competing interests.

  • Acute lymphoblastic leukemia images
  • Differentials

    • Acute myeloid leukemias (AML)
    • Reactive lymphocytosis ("leukemoid reaction")
    • Small-cell lung cancer
    More Differentials
  • Guidelines

    • NCCN practice guidelines in oncology: hematopoietic growth factors
    • NCCN practice guidelines in oncology: prevention and treatment of cancer-related infections
    More Guidelines
  • Patient leaflets

    Leukaemia (acute lymphocytic)

    More Patient leaflets
  • Videos

    Diagnostic lumbar puncture in adults: animated demonstration

    More videos
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer