The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

Homozygous XRCC2 p.(Arg215Ter) variant — impaired homologous recombination repair without classical hematological phenotype

The homozygous XRCC2 p.(Arg215Ter) variant is associated with atypical Fanconi anemia (FA) lacking major hematological abnormalities in childhood. Classical FA presents with progressive bone marrow failure, congenital malformations, and cancer predisposition. XRCC2-related FA can present atypically without cytopenias, a presentation that may significantly delay diagnosis. This report emphasizes the importance of chromosomal fragility testing and XRCC2 analysis in atypical presentations.

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Fanconi anemia without pediatric cytopenias is a classic diagnostic pitfall: without the hematological alert, diagnosis may only be made at cancer presentation or adult complications. This XRCC2 report reinforces the importance of chromosomal fragility testing or FA gene inclusion in cancer predisposition panels, even without a hematological phenotype.

Clinical impact : 2/3 · Evidence strength : 2/3 · Novelty : 2/2 · Sample size : 0/1 · Journal quality : 0/1 → Total : 6/10