Lymphoma predisposing gene in an extended family: CD70 signaling defect

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dc.authoridFunda Erol Çipe / 0000-0002-9718-7507
dc.authoridAyşenur Kaya / 0000-0002-8183-0190
dc.authoridSinem Fırtına / 0000-0002-3370-8545
dc.authorscopusidFunda Erol Çipe / 25824763200
dc.authorscopusidAyşenur Kaya / 55544555800
dc.authorscopusidSinem Fırtına / 16642650000
dc.authorwosidFunda Erol Çipe / GDE-8701-2022
dc.authorwosidAyşenur Kaya / AAO-7577-2020
dc.authorwosidSinem Fırtına / X-8520-2018
dc.contributor.authorKhodzhaev, Khusan
dc.contributor.authorBay, Sema Buyukkapu
dc.contributor.authorKebudi, Rejin
dc.contributor.authorAltındirek, Didem
dc.contributor.authorKaya, Ayşenur
dc.contributor.authorErbilgin, Yücel
dc.contributor.authorNg, Özden Hatırnaz
dc.contributor.authorKıykım, Ayça
dc.contributor.authorErol Çipe, Funda
dc.contributor.authorŞen Zengin, Feride
dc.contributor.authorFırtına, Sinem
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorAksoy, Başak Adaklı
dc.contributor.authorSayitoğlu, Müge
dc.date.accessioned2020-08-30T20:06:08Z
dc.date.available2020-08-30T20:06:08Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_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 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.citationKhodzhaev, K., Bay, S. B., Kebudi, R., Altindirek, D., Kaya, A., Erbilgin, Y., ... & Firtina, S. (2020). Lymphoma predisposing gene in an extended family: CD70 signaling defect. Journal of Clinical Immunology, 40(6), 883-892.en_US
dc.identifier.doi10.1007/s10875-020-00816-4en_US
dc.identifier.endpage892en_US
dc.identifier.issn0271-9142en_US
dc.identifier.issn1573-2592en_US
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/20.500.12713/374
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.institutionauthorKaya, Ayşenuren_US
dc.institutionauthorErol Çipe, Fundaen_US
dc.institutionauthorFırtına, Sinemen_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.subjectImmune Deficiencyen_US
dc.subjectLymphomaen_US
dc.subjectEbven_US
dc.subjectMalignanciesen_US
dc.titleLymphoma predisposing gene in an extended family: CD70 signaling defecten_US
dc.typeArticleen_US

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