CASE REPORT
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3–phosphatase mutation developed acute myeloid leukemia
Abstract
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.
Open Research
DATA AVAILABILITY STATEMENT
Data are openly available in a public repository that issues datasets with DOIs.
