Article
Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review.
Clinical genetics - 1 Aug 2024
Freycon Claire, Sepulchre Edith, Lavallée Vincent-Philippe, Mitchell David, MacMillan Margaret L, Vezina Catherine, Goudie Catherine
Abstract excerpt
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...
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