Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review.
Fanconi anemia
acute promyelocytic leukemia
cancer predisposition syndrome
cancer surveillance
stem cell transplant
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
24 Apr 2024
24 Apr 2024
Historique:
revised:
11
04
2024
received:
22
02
2024
accepted:
17
04
2024
medline:
25
4
2024
pubmed:
25
4
2024
entrez:
24
4
2024
Statut:
aheadofprint
Résumé
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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Cedars Cancer Foundation/Sarah's Funds
Organisme : Cancéropôle Lyon Auvergne Rhône-Alpes
Organisme : Fondation Charles-Bruneau
Organisme : Fonds de recherche du Québec
ID : 253761
Organisme : Fondation ARC pour la Recherche sur le Cancer
Organisme : Cole Foundation
Organisme : Fondation de l'hopital pour enfants de Montreal
Informations de copyright
© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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