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Published on: March 26, 2018

Acute myeloid leukemia in a 23-year-old patient with Beckwith-Wiedemann syndrome

I Houtenbos1, G J Ossenkoppele

  • 1Department of Hematology, (Br 250), VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

Cancer Genetics and Cytogenetics
|August 8, 2002
PubMed

Insights

Beckwith-Wiedemann syndrome (BWS) patients face higher cancer risks. This case highlights a rare instance of acute myeloid leukemia in a 23-year-old with BWS, suggesting a link to IGF2 gene imprinting.

Area of Science:

  • Genetics
  • Pediatrics
  • Oncology

Background:

  • Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder associated with an increased risk of childhood malignancies.
  • Hematological malignancies are rarely reported in BWS patients, with only one case of early childhood leukemia documented previously.

Observation:

  • This report details a unique case of a 23-year-old patient diagnosed with Beckwith-Wiedemann syndrome who developed acute myeloid leukemia.
  • The patient's diagnosis occurred significantly later in life than typically observed for BWS-associated cancers.

Findings:

  • The study explores the potential role of genomic imprinting, specifically the loss of imprinting in growth regulatory genes like IGF2, as a causative factor in BWS.
  • IGF2 is implicated in both childhood overgrowth syndromes and the development of adult acute leukemia, offering a plausible explanation for this patient's presentation.

Implications:

  • This case expands the known spectrum of malignancies associated with BWS, particularly highlighting the risk of adult-onset hematological malignancies.
  • Understanding the genetic underpinnings, such as IGF2 imprinting, may lead to improved surveillance strategies and risk stratification for BWS patients.
  • Further research into the long-term oncological risks in BWS is warranted, especially concerning adult-onset leukemias.

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