RESUMO
The 1p/19q codeletion is the result of a translocation between chromosome 1 (Chr1p) and chromosome 19 (Chr19q) with the loss of derivative (1;19)(p10;q10) chromosome. The 1p/19q codeletion has predictive and prognostic significance, and it is essential for the classification of gliomas. In routine practice, the fluorescence in situ hybridization (FISH) diagnosis of 1p/19q codeletion is sometimes unexpected. This study aimed to develop a next-generation sequencing panel for the concurrent definition of the 1p/19q codeletion and IDH1/IDH2 mutation status to resolve these equivocal cases. A total of 65 glioma samples were investigated using a 1p/19q-single-nucleotide polymorphism (SNP)-IDH panel. The panel consists of 192 amplicons, including SNPs mapping to Chr1 and Chr19 and amplicons for IDH1/IDH2 analysis. The 1p/19q SNP-IDH panel consistently identified IDH1/IDH2 mutations. In 49 of 60 cases (81.7%), it provided the same 1p/19q results obtained by FISH. In the remaining 11 cases, the 1p/19q SNP-IDH panel uncovered partial chromosome imbalances as a result of interstitial amplification or deletion of the regions where the FISH probes map, leading to a mistaken overdiagnosis of 1p/19q codeletion by FISH. The 1p/19q SNP-IDH next-generation sequencing panel allows reliable analysis of the 1p/19q codeletion and IDH1/IDH2 mutation at the same time. The panel not only allows resolution of difficult cases but also represents a cost-effective alternative to standard molecular diagnostics procedures.
Assuntos
Neoplasias Encefálicas/genética , Cromossomos Humanos Par 19/genética , Cromossomos Humanos Par 1/genética , Deleção de Genes , Glioma/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Hibridização in Situ Fluorescente/métodos , Isocitrato Desidrogenase/genética , Sobrediagnóstico , Translocação Genética/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/patologia , Estudos de Coortes , Análise Custo-Benefício , Análise Mutacional de DNA/economia , Análise Mutacional de DNA/métodos , Feminino , Glioma/patologia , Sequenciamento de Nucleotídeos em Larga Escala/economia , Humanos , Hibridização in Situ Fluorescente/economia , Masculino , Pessoa de Meia-Idade , Técnicas de Diagnóstico Molecular/economia , Técnicas de Diagnóstico Molecular/métodos , Polimorfismo de Nucleotídeo Único , Reprodutibilidade dos Testes , Adulto JovemRESUMO
Influenza epidemics pose a great overload over health-care facilities with an increase in the burden of disease for patients and healthcare costs. Despite a well-established amount of research in the area, vaccination rates show room for improvement and more research is needed in finding systematic interventions useful in improving healthcare workers (HCWs) vaccination coverage (VC). The purpose of this study was to describe the self-reported frequency of influenza immunization in HCWs and to identify demographic, socioeconomic, lifestyle, and health factors associated with this practice in Italy. Data about 5823 workers participating in the Italian national survey about health and healthcare services utilization are analyzed in the present study. Overall, 18.8% of HCWs reported being vaccinated against seasonal flu. In the multilevel regression, older workers had a higher likelihood of vaccine uptake (OR: 6.07; 95% CI 4.72-7.79), similar to those with chronic conditions or poor self-perceived health status (OR: 2.18 95% CI 1.17-4.09). On the other hand, the results highlighted a lower rate of VC in female HCWs (OR: 0.73 95% CI 0.61-0.86). Data confirm the low compliance towards flu immunization among Italian HCWs and highlight an important gap to be investigated in women.