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

BAYRAM N., YAMAN Y., ELLİ M., ÖZDİLLİ K., Nepesov S., DOĞAN M. S., ...More

Pediatric Transplantation, vol.26, no.4, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 4
  • Publication Date: 2022
  • Doi Number: 10.1111/petr.14255
  • Journal Name: Pediatric Transplantation
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Keywords: AML, DNA repair disorders, HSCT, PNKP mutation
  • Istanbul Medipol University Affiliated: Yes


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.