Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect

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dc.authoridAksoy, Başak Adaklı/0000-0001-8338-2101|ERBILGIN, YÜCEL/0000-0001-6969-6649|Firtina, Sinem/0000-0002-3370-8545|Kebudi, Rejin/0000-0003-4344-8174|NG, YUK YIN/0000-0001-9755-6045|Kiykim, Ayca/0000-0001-5821-3963|Erdeniz, Emine Hafize/0000-0003-2669-0890|Kaya, Aysenur/0000-0002-8183-0190|Aydin Sayitoglu, Muge/0000-0002-8648-213X|Altindirek, Didem/0000-0001-5068-2968
dc.authorwosidAksoy, Başak Adaklı/AAK-3627-2021
dc.authorwosidAltindirek, Didem/AGV-8435-2022
dc.authorwosidFırtına, Sinem/GSD-3891-2022
dc.authorwosidBuyukkapu Bay, Sema/ITV-5614-2023
dc.authorwosidErtan, Asli/AAE-6201-2021
dc.authorwosidERBILGIN, YÜCEL/AAC-4769-2020
dc.authorwosidSayitoglu, Muge/B-6578-2015
dc.contributor.authorKhodzhaev, Khusan
dc.contributor.authorBay, Sema Buyukkapu
dc.contributor.authorKebudi, Rejin
dc.contributor.authorAltindirek, Didem
dc.contributor.authorKaya, Aysenur
dc.contributor.authorErbilgin, Yucel
dc.contributor.authorNg, Ozden Hatirnaz
dc.date.accessioned2024-07-18T20:42:13Z
dc.date.available2024-07-18T20:42:13Z
dc.date.issued2020
dc.departmentİstanbul Bilgi Üniversitesien_US
dc.description.abstractGenome-wide sequencing studies in pediatric cancer cohorts indicate that about 10% of patients have germline mutations within cancer predisposition genes. Within this group, primary immune deficiencies take the priority regarding the vulnerability of the patients to infectious agents and the difficulties of cancer management. On the other hand, early recognition of these diseases may offer specific targeted therapies and hematopoietic stem cell transplantation as an option. Besides therapeutic benefits, early diagnosis will provide genetic counseling for the family members. Within this context, an extended family with multiple consanguineous marriages and affected individuals, who presented with combined immune deficiency (CID) and/or Hodgkin lymphoma phenotype, were examined by exome sequencing. A pathogenic homozygous missenseCD70variation was detected (NM_001252.5:c332C>T) in concordance withCD70phenotype and familial segregation was confirmed.CD70variations in patients with CID and malignancy have very rarely been reported. This paper reports extended family with multiple affected members with CID and malignancy carrying a missenseCD70variation, and reviews the rare cases reported in the literature. Primary immune deficiencies appear to be a potential cause for pediatric cancers. Better focusing on these inborn disorders to prevent or make an early diagnosis of malignant transformation and reduce mortalities is important.en_US
dc.description.sponsorshipIstanbul University [TOA 20499]; Bilgi University [2018.01.006]en_US
dc.description.sponsorshipThis project is supported by Istanbul University Research Fund with the project number: TOA 20499 and by Bilgi University Research Fund: 2018.01.006. The authors thank Prof Emin Darendeliler, Dr. Ayca Iribas, Istanbul University, Oncology Institute, Department of Radiation Oncology; Assoc. Prof Muge Gokce, Bahcelievler Memorial Hospital and The Stem Cell Transplantation Unit of the Medicalpark, Bahcelievler Hospital for the support in the treatment of the patients; and Emine Hafize Erdeniz from Erzurum Education and Research Hospital for providing patient information.en_US
dc.identifier.doi10.1007/s10875-020-00816-4
dc.identifier.endpage892en_US
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.issue6en_US
dc.identifier.pmid32620996en_US
dc.identifier.scopus2-s2.0-85087517343en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage883en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-020-00816-4
dc.identifier.urihttps://hdl.handle.net/11411/7184
dc.identifier.volume40en_US
dc.identifier.wosWOS:000545190400001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCd70en_US
dc.subjectİmmune Deficiencyen_US
dc.subjectLymphomaen_US
dc.subjectEbven_US
dc.subjectMalignanciesen_US
dc.subjectEpstein-Barr-Virusen_US
dc.subjectLoss-Of-Functionen_US
dc.subjectLarge B-Cellen_US
dc.subjectT-Cellen_US
dc.subjectCombined Immunodeficiencyen_US
dc.subjectHumans Revealsen_US
dc.subjectDeficiencyen_US
dc.subjectCd27en_US
dc.subjectLiganden_US
dc.subjectMutationsen_US
dc.titleLymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defecten_US
dc.typeArticleen_US

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