Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review

Claire Freycon, Edith Sepulchre, Vincent Philippe Lavallée, David Mitchell, Margaret L. MacMillan, Catherine Vezina, Catherine Goudie

Research output: Contribution to journalArticlepeer-review


Acute promyelocytic leukemia (APL) represents 5%–10% of childhood acute myeloid leukemia (AML) and is the most curable subtype of AML. Fanconi anemia (FA) is one of the most common inherited bone marrow failure syndromes caused by biallelic pathogenic variants (PV) in specific DNA-repair genes. Biallelic PVs in FANCD1/BRCA2 (FA-D1) account for 3% of FA and are associated with early-onset leukemia and a high risk of solid tumors. We report a 4 year-old boy from non-consanguineous parents diagnosed with standard risk APL. This child had café-au-lait spots and an extra thumb remnant. Genomic sequencing revealed two PV in FANCD1/BRCA2 confirming a diagnosis of FA-D1. Chromosomal breakage studies were compatible with FA. Each parent carried one variant and had no personal history of cancer. Morphological then molecular remissions were achieved with all-trans retinoic acid and Arsenic trioxide. This patient underwent haploidentical stem cell transplant. In addition to our patient, a literature search revealed four additional patients with APL/FA, with a total of three patients with FA-D1. This raises the possibility of an association between such rare disorders. Practical management of APL in the setting of FA-D1 is discussed with an overview of current evidence and knowledge gaps.

Original languageEnglish (US)
JournalClinical Genetics
StateAccepted/In press - 2024

Bibliographical note

Publisher Copyright:
© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


  • Fanconi anemia
  • acute promyelocytic leukemia
  • cancer predisposition syndrome
  • cancer surveillance
  • stem cell transplant

PubMed: MeSH publication types

  • Journal Article


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