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dc.contributor.authorШарапова, С.О.-
dc.contributor.authorPashchenko, Olga E.-
dc.contributor.authorБондаренко, А.В.-
dc.contributor.authorVakhlyarskaya, Svetlana S.-
dc.contributor.authorProkofjeva, Tatjana-
dc.contributor.authorFedorova, Alina S.-
dc.contributor.authorСавчак, І.-
dc.contributor.authorMareika, Yuliya-
dc.contributor.authorValiev, Timur T.-
dc.contributor.authorPopa, Alexander-
dc.contributor.authorМакух, Галина-
dc.contributor.authorКостюченко, Л.В.-
dc.contributor.authorAleinikova, Olga V.-
dc.date.accessioned2021-11-06T20:16:35Z-
dc.date.available2021-11-06T20:16:35Z-
dc.date.issued2021-
dc.identifier.citationSharapova SO, Pashchenko OE, Bondarenko AV, Vakhlyarskaya SS, Prokofjeva T, Fedorova AS, Savchak I, Mareika Y, Valiev TT, Popa A, Tuzankina IA, Vlasova EV, Sakovich IS, Polyakova EA, Rumiantseva NV, Naumchik IV, Kulyova SA, Aleshkevich SN, Golovataya EI, Minakovskaya NV, Belevtsev MV, Latysheva EA, Latysheva TV, Beznoshchenko AG, Akopyan H, Makukh H, Kozlova O, Varabyou DS, Ballow M, Ong M-S, Walter JE, Kondratenko IV, Kostyuchenko LV and Aleinikova OV (2021) Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5. Front. Immunol. 11:602482. doi: 10.3389/fimmu.2020.602482uk_UK
dc.identifier.urihttp://lib.inmeds.com.ua:8080/jspui/handle/lib/3751-
dc.description.abstractNijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibrin (NBN) gene (c.657_661del5, p.K219fsX19) with a founder effect observed in Caucasian European populations, especially of Slavic origin. We present here an analysis of a cohort of 136 NBS patients of Eastern Slav origin across Belarus, Ukraine, Russia, and Latvia with a focus on understanding the geographic distribution, incidence of malignancy, and treatment outcomes of this cohort. Our analysis shows that Belarus had the highest prevalence of NBS (2.3 per 1,000,000), followed by Ukraine (1.3 per 1,000,000), and Russia (0.7 per 1,000,000). Of note, the highest concentration of NBS cases was observed in the western regions of Belarus and Ukraine, where NBS prevalence exceeds 20 cases per 1,000,000 people, suggesting the presence of an “Eastern Slavic NBS hot spot.” The median age at diagnosis of this cohort ranged from 4 to 5 years, and delay in diagnosis was more pervasive in smaller cities and rural regions. A total of 62 (45%) patients developed malignancies, more commonly in males than females (55.2 vs. 34.2%; p=0.017). In 27 patients, NBS was diagnosed following the onset of malignancies (mean age: 8 years). Malignancies were mostly of lymphoid origin and predominantly non-Hodgkin lymphoma (NHL) (n=42, 68%); 38% of patients had diffuse large B-cell lymphoma. The 20-year overall survival rate of patients with malignancy was 24%. However, females with cancer experienced poorer event-free survival rates than males (16.6% vs. 46.8%, p=0.036). Of 136 NBS patients, 13 underwent hematopoietic stem cell transplantation (HSCT) with an overall survival of 3.5 years following treatment (range: 1 to 14 years). Indications for HSCT included malignancy (n=7) and immunodeficiency (n=6). Overall, 9% of patients in this cohort reached adulthood. Adult survivors reported diminished quality of life with significant physical and cognitive impairments. Our study highlights the need to improve timely diagnosis and clinical management of NBS among Eastern Slavs. Genetic counseling and screening should be offered to individuals with a family history of NBS, especially in hot spot regions.uk_UK
dc.language.isoenuk_UK
dc.publisherFrontiersuk_UK
dc.relation.ispartofseriesFrontiers in immunology;11 (1)-
dc.subjectNijmegen breakage syndrome (NBS)uk_UK
dc.subjectc.657_661del5, p.K219fsX19uk_UK
dc.subjectSlavic originuk_UK
dc.subjectmalignancyuk_UK
dc.subjectfounder variantsuk_UK
dc.subjectfounder variantsuk_UK
dc.subjectquality of lifeuk_UK
dc.titleGeographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5uk_UK
dc.typeArticleuk_UK
Розташовується у зібраннях:Кафедра дитячих інфекційних хвороб та дитячої імунології

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