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., ...Daha Fazla

Pediatric Transplantation, cilt.26, sa.4, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 4
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1111/petr.14255
  • Dergi Adı: Pediatric Transplantation
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Anahtar Kelimeler: AML, DNA repair disorders, HSCT, PNKP mutation
  • İstanbul Medipol Üniversitesi Adresli: Evet

Özet

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.