HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia

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2022Author
Bayram, NihanYaman, Yöntem
Elli, Murat
Özdilli, Kürşat
Nepesov, Serdar
Doğan, Mehmet Sait
Ayaz, Akif
Anak, Sema
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Bayram, 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.14255Abstract
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 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.
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Pediatric TransplantationVolume
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