Bayram, NihanYaman, YöntemElli, MuratÖzdilli, KürşatNepesov, SerdarDoğan, Mehmet SaitAyaz, AkifAnak, Sema2022-11-232022-11-232022Bayram, N., Yaman, Y., Elli, M., Özdilli, K., Nepesov, S., Doğan, M. S. ... Anak, S. (2022). HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia. Pediatric Transplantation, 26(4). https://doi.org/10.1111/petr.142551397-31421399-3046https://doi.org/10.1111/petr.14255https://hdl.handle.net/20.500.12511/10012Background 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 risk of malignancy, association between PNKP mutations and malignancy is not well-described. This report is the first description of a PNPK mutation patient developing a malignancy and undergoing curative HSCT.eninfo:eu-repo/semantics/embargoedAccessAMLDNA Repair DisordersHSCTPNKP MutationArticle26410.1111/petr.14255Q40007581581000012-s2.0-8512487219935187769Q2