Article
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia.
Pediatric transplantation - 1 Jun 2022
Bayram Nihan, Yaman Yontem, Elli Murat, Ozdilli Kursat, Nepesov Serdar, Dogan Mehmet Sait, Ayaz Akif, Anak Sema
Abstract excerpt
BACKGROUND: PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. OBSERVATION: Here, we report a patient with PNKP mutation, who developed AML at age of five and underwent reduced-intensity HSCT. CONCLUSION: Although many DNA repair disorders are known to have increased...
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