Pediatric Hematology and Oncology Department, Istanbul Medipol University, Istanbul, Turkey.
Medical Biology Department, Istanbul Medipol University, Istanbul, Turkey.
Pediatr Transplant. 2022 Jun;26(4):e14255. doi: 10.1111/petr.14255. Epub 2022 Feb 21.
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.
Here, we report a patient with PNKP mutation, who developed AML at age of five and underwent reduced-intensity HSCT.
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.
PNPK 基因突变导致 DNA 修复障碍，并具有一系列神经发育表现。迄今为止，PNKP 基因突变患者并未出现癌症易感性。
在此，我们报告了一名 PNKP 突变患者，该患者在五岁时罹患 AML，并接受了强度降低的 HSCT。
虽然许多 DNA 修复障碍已知具有增加的恶性肿瘤风险，但 PNKP 突变与恶性肿瘤之间的关联尚未得到很好的描述。本报告首次描述了一名发生恶性肿瘤并接受根治性 HSCT 的 PNPK 突变患者。
