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Last reviewed: 21 Mar 2025
Last updated: 29 Nov 2024

Summary

Definition

History and exam

Key diagnostic factors

  • splenomegaly
  • fatigue
  • malaise
  • night sweats
  • fever
  • abnormal/excessive bleeding
  • bone pain

Other diagnostic factors

  • weight loss
  • petechiae, ecchymoses, or easy bruising
  • infection
  • abdominal pain
  • visual changes
  • focal neurological signs
  • priapism
  • tinnitus
  • confusion or stupor

Risk factors

  • history of chronic myeloid leukaemia (CML)
  • exposure to alkylating chemotherapeutic agents
  • exposure to ionising radiation

Diagnostic investigations

Investigations to consider

  • peripheral blood smear
  • bone marrow aspiration and biopsy for cytogenetic analysis
  • quantitative reverse-transcriptase polymerase chain reaction (qRT-PCR)
  • fluorescence in situ hybridisation
  • flow cytometry
  • mutational analysis
  • HLA1 testing
  • lumbar puncture
  • serum leukocyte alkaline phosphatase
  • serum vitamin B12

Treatment algorithm

Contributors

Authors

Carlos Palacio, MD, MPH, FACP
Carlos Palacio

Professor of Medicine

University of Florida College of Medicine

Jacksonville

FL

Disclosures

CP declares that he has no competing interests.

Marwan E. Shaikh, MD

Assistant Professor

College of Medicine

Division of Hematology and Oncology

Mayo Clinic Jacksonville

Jacksonville

FL

Disclosures

MES declares that he has no competing interests.

Acknowledgements

Dr Carlos Palacio and Dr Marwan E. Shaikh would like to gratefully acknowledge Fauzia Rana, a previous contributor to this topic.

Disclosures

FR declares that she has no competing interests.

Peer reviewers

Danilo Perrotti, MD, PhD

Assistant Professor of Human Cancer Genetics

Ohio State University

Columbus

OH

Disclosures

DP declares that he has no competing interests.

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