Lymphoma predisposing gene in an extended family: CD70 signaling defect

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dc.contributor.authorKhodzhaev, Khusan
dc.contributor.authorBay, Sema Buyukkapu
dc.contributor.authorKebudi, Rejin
dc.contributor.authorAltindirek, Didem
dc.contributor.authorKaya, Ayşenur
dc.contributor.authorErbilgin, Yücel
dc.contributor.authorSayitoğlu, Müge
dc.contributor.authorAksoy, Başak Adaklı
dc.contributor.authorZengin, Feride Şen
dc.date.accessioned2021-05-15T11:33:35Z
dc.date.available2021-05-15T11:33:35Z
dc.date.issued2020
dc.departmentTıp Fakültesi, Pediatrik Hematoloji Onkolojisi Anabilim Dalıen_US
dc.descriptionFIRTINA, Sinem/0000-0002-3370-8545; Aksoy, Basak Adakli/0000-0001-8338-2101; kiykim, ayca/0000-0001-5821-3963; NG, YUK YIN/0000-0001-9755-6045; Kaya, Aysenur/0000-0002-8183-0190; Altindirek, Didem/0000-0001-5068-2968
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 UniversityIstanbul 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.pmid32620996
dc.identifier.scopus2-s2.0-85087517343
dc.identifier.scopusqualityQ1
dc.identifier.startpage883en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-020-00816-4
dc.identifier.urihttps://hdl.handle.net/20.500.12939/189
dc.identifier.volume40en_US
dc.identifier.wosWOS:000545190400001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAksoy, Başak Adaklı
dc.language.isoen
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCD70en_US
dc.subjectImmune Deficiencyen_US
dc.subjectlymphomaen_US
dc.subjectEBVen_US
dc.subjectMalignanciesen_US
dc.titleLymphoma predisposing gene in an extended family: CD70 signaling defect
dc.typeArticle

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