dc.contributor.author | Bayram, Nihan | |
dc.contributor.author | Yaman, Yöntem | |
dc.contributor.author | Elli, Murat | |
dc.contributor.author | Özdilli, Kürşat | |
dc.contributor.author | Nepesov, Serdar | |
dc.contributor.author | Doğan, Mehmet Sait | |
dc.contributor.author | Ayaz, Akif | |
dc.contributor.author | Anak, Sema | |
dc.date.accessioned | 2022-11-23T06:33:36Z | |
dc.date.available | 2022-11-23T06:33:36Z | |
dc.date.issued | 2022 | en_US |
dc.identifier.citation | 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.14255 | en_US |
dc.identifier.issn | 1397-3142 | |
dc.identifier.issn | 1399-3046 | |
dc.identifier.uri | https://doi.org/10.1111/petr.14255 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12511/10012 | |
dc.description.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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Wiley | en_US |
dc.rights | info:eu-repo/semantics/embargoedAccess | en_US |
dc.subject | AML | en_US |
dc.subject | DNA Repair Disorders | en_US |
dc.subject | HSCT | en_US |
dc.subject | PNKP Mutation | en_US |
dc.title | HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia | en_US |
dc.type | article | en_US |
dc.relation.ispartof | Pediatric Transplantation | en_US |
dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı | en_US |
dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı | en_US |
dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü | en_US |
dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı | en_US |
dc.authorid | 0000-0002-9688-5223 | en_US |
dc.authorid | 0000-0002-9710-8653 | en_US |
dc.authorid | 0000-0002-0476-5452 | en_US |
dc.authorid | 0000-0002-7129-5024 | en_US |
dc.authorid | 0000-0002-4551-5433 | en_US |
dc.authorid | 0000-0001-8459-6988 | en_US |
dc.authorid | 0000-0001-6930-7148 | en_US |
dc.authorid | 0000-0001-8489-7449 | en_US |
dc.identifier.volume | 26 | en_US |
dc.identifier.issue | 4 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.doi | 10.1111/petr.14255 | en_US |
dc.institutionauthor | Bayram, Nihan | |
dc.institutionauthor | Yaman, Yöntem | |
dc.institutionauthor | Elli, Murat | |
dc.institutionauthor | Özdilli, Kürşat | |
dc.institutionauthor | Nepesov, Serdar | |
dc.institutionauthor | Doğan, Mehmet Sait | |
dc.institutionauthor | Ayaz, Akif | |
dc.institutionauthor | Anak, Sema | |
dc.identifier.wosquality | Q4 | en_US |
dc.identifier.wos | 000758158100001 | en_US |
dc.identifier.scopus | 2-s2.0-85124872199 | en_US |
dc.identifier.pmid | 35187769 | en_US |
dc.identifier.scopusquality | Q2 | en_US |