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

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dc.authorid0000-0002-9688-5223
dc.authorid0000-0002-9710-8653
dc.authorid0000-0002-0476-5452
dc.authorid0000-0002-7129-5024
dc.authorid0000-0002-4551-5433
dc.authorid0000-0001-8459-6988
dc.authorid0000-0001-6930-7148
dc.authorid0000-0001-8489-7449
dc.contributor.authorBayram, Nihan
dc.contributor.authorYaman, Yöntem
dc.contributor.authorElli, Murat
dc.contributor.authorÖzdilli, Kürşat
dc.contributor.authorNepesov, Serdar
dc.contributor.authorDoğan, Mehmet Sait
dc.contributor.authorAyaz, Akif
dc.contributor.authorAnak, Sema
dc.date.accessioned2022-11-23T06:33:36Z
dc.date.available2022-11-23T06:33:36Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractBackground 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.
dc.identifier.citationBayram, 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
dc.identifier.doi10.1111/petr.14255
dc.identifier.issn1397-3142
dc.identifier.issn1399-3046
dc.identifier.issue4
dc.identifier.pmid35187769
dc.identifier.scopus2-s2.0-85124872199
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1111/petr.14255
dc.identifier.urihttps://hdl.handle.net/20.500.12511/10012
dc.identifier.volume26
dc.identifier.wos000758158100001en_US
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBayram, Nihan
dc.institutionauthorYaman, Yöntem
dc.institutionauthorElli, Murat
dc.institutionauthorÖzdilli, Kürşat
dc.institutionauthorNepesov, Serdar
dc.institutionauthorDoğan, Mehmet Sait
dc.institutionauthorAyaz, Akif
dc.institutionauthorAnak, Sema
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofPediatric Transplantationen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectAML
dc.subjectDNA Repair Disorders
dc.subjectHSCT
dc.subjectPNKP Mutation
dc.titleHLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia
dc.typeArticle

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