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1.
Medicine (Baltimore) ; 102(17): e33098, 2023 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-37115091

RESUMEN

Primary malignant lymphoma of the parotid gland is a rare entity. The disease is often misdiagnosed, and its survival factors remain unclear. This study included patients diagnosed with primary B-cell non-Hodgkin lymphoma of the parotid gland from 1987 to 2016 in the surveillance, epidemiology, and end results program. Univariate survival analysis was conducted using the Kaplan-Meier method, and multivariate analysis was performed using the Cox proportional hazards regression model. A competing risks regression model was applied to estimate the specific risks associated with parotid lymphoma mortality. A total of 1443 patients were identified. The overall survival of indolent primary B-cell lymphoma of the parotid gland was higher than that of aggressive lymphoma (hazard ratio 0.53, 95% confidence interval 0.44-0.64, P < .001), and older patients (≥70 years) exhibited inferior overall survival. Histological subtype and age are important prognostic factors in patients with primary B-cell non-Hodgkin lymphoma of the parotid gland.


Asunto(s)
Linfoma de Células B , Linfoma , Neoplasias de la Parótida , Humanos , Linfoma/epidemiología , Glándula Parótida , Neoplasias de la Parótida/epidemiología , Programa de VERF , Linfoma de Células B/epidemiología , Pronóstico
2.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 31(1): 183-188, 2023 Feb.
Artículo en Chino | MEDLINE | ID: mdl-36765497

RESUMEN

OBJECTIVE: To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with hereditary spherocytosis. METHODS: The proband with jaundice and anemia was referred to Yidu Central Hospital of Weifang in May 2021. Peripheral blood samples were collected from six members of the family. Second-generation sequencing was used to screen the pathological mutations, and the clinically significant variant sites were selected. Then the relevant databases were used to analyze the variant sites, and RT-qPCR was used to detect the relative mRNA levels of candidate gene. The structure and function of SPTB protein were analyzed by UniProt and SMART databases. RESULTS: We infer that the SPTB gene copy number variation (CNV) deletion was co-segregated with the phenotype of the patients in this family based on the results of second-generation sequencing (about 700 target genes). The UCSC Genome Browser demonstrated that the deleted region was mainly located in exon2-3 of SPTB gene. The results of RT-qPCR showed that the relative SPTB mRNA levels of all patients were lower than the healthy control. UniProt and SMART databases analysis showed that SPTB protein without CH1 and CH2 domains could not bind to erythrocyte membrane actin. CONCLUSION: The CNV deletion of SPTB gene may be the reason for the hereditary spherocytosis in this family.


Asunto(s)
Variaciones en el Número de Copia de ADN , Espectrina , Esferocitosis Hereditaria , Humanos , Pueblos del Este de Asia , Mutación , Linaje , Espectrina/genética , Esferocitosis Hereditaria/genética , Esferocitosis Hereditaria/diagnóstico
3.
Neoplasma ; 68(5): 917-923, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33847131

RESUMEN

Protein phosphatase 1H (PPM1H) is the metal-dependent protein phosphatase, however, its role in tumorigenesis and tumor progression remains controversial. Non-small-cell lung cancer (NSCLC) is the most common histological type of lung cancer but the expression and clinical significance of PPM1H in NSCLC is unknown. In our study, we detected the mRNA of PPM1H in 25 pairs of NSCLC tissues and their corresponding adjacent tissues with qRT-PCR. Moreover, we investigated PPM1H expression in 474 NSCLC tissues and divided them into subgroups with low and high PPM1H. We further evaluated its correlation with the clinicopathological factors. The correlation between PPM1H and other biomarkers involved in tumor progression including chromosome segregation 1-like protein (CSE1L), p53, and Ki67 was also estimated. In addition, the prognostic significance of PPM1H was investigated by univariate and multivariate analyses. The mRNA levels of PPM1H in NSCLCs were significantly higher than those in tumor-adjacent tissues. Patients with low and high PPM1H expression accounted for 54.64% (259/474) and 45.36% (215/474) respectively in all the NSCLCs. PPM1H expression (p=0.012), patients' sex (p=0.009), tumor size (p<0.001), histological grade (p=0.026), T stage (p=0.002), N stage (p<0.001), M stage (p=0.011), and TNM stage (p<0.001) were all associated with the poor prognosis. With multivariate analysis, PPM1H was determined as an independent prognostic factor of NSCLC (HR=1.42, 95% CI=1.14-1.75, p=0.001). Moreover, high PPM1H was significantly with high Ki67 (p=0.022), indicating the oncogenic role of PPM1H. PPM1H is an independent prognostic factor indicating an unfavorable prognosis of NSCLC. Our results indicated that PPM1H was an important supplement of NSCLC molecular profile and detecting PPM1H may help recognize the high-risk patients for further treatment.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas , Neoplasias Pulmonares , Biomarcadores de Tumor/genética , Carcinoma de Pulmón de Células no Pequeñas/genética , Carcinoma de Pulmón de Células no Pequeñas/patología , Humanos , Estimación de Kaplan-Meier , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patología , Estadificación de Neoplasias , Fosfoproteínas Fosfatasas , Pronóstico
4.
J Cell Mol Med ; 22(5): 2612-2621, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29512921

RESUMEN

DHX15 plays a role in leukaemogenesis and leukaemia relapse. However, the mechanism underlying the transcriptional regulation of DHX15 in ALL has not been elucidated. Our present study aimed to explore the functional promoter region of DHX15 and to investigate the transcription factors controlling the transcription of this gene. A luciferase assay performed with several truncated constructs identified a 501-bp region as the core promoter region of DHX15. Site-directed mutagenesis, electrophoretic mobility shift and chromatin immunoprecipitation assays showed that ETS1 and SP1 occupied the DHX15 promoter. Furthermore, knockdown of ETS1 and SP1 resulted in suppression of DHX15, whereas the overexpression of these genes led to up-regulation of DHX15. Interestingly, in samples obtained from patients with ALL at diagnosis, both ETS1 and SP1 correlated positively with DHX15 expression. Additionally, differences in methylation of the DHX15 core promoter region were not observed between the patients and controls. In conclusion, we identified the core promoter region of DHX15 and demonstrated that ETS1 and SP1 regulated DHX15 expression in ALL.


Asunto(s)
Regulación Leucémica de la Expresión Génica , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proteína Proto-Oncogénica c-ets-1/metabolismo , ARN Helicasas/genética , Factor de Transcripción Sp1/metabolismo , Emparejamiento Base/genética , Secuencia de Bases , Sitios de Unión , Línea Celular Tumoral , Islas de CpG/genética , Metilación de ADN/genética , Humanos , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Regiones Promotoras Genéticas , Unión Proteica , Proteína Proto-Oncogénica c-ets-1/genética , ARN Helicasas/metabolismo , ARN Mensajero/genética , ARN Mensajero/metabolismo , Sitio de Iniciación de la Transcripción , Transcripción Genética
5.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 25(5): 1410-1414, 2017 Oct.
Artículo en Chino | MEDLINE | ID: mdl-29070116

RESUMEN

OBJECTIVE: To investigate the value of B-cell differentiation markers in prognosis evaluation of 119 patients with primary CNS lymphoma(PCNSL). METHODS: The expressions of BCL-2, BCL-6, CD10 and MUM1/IRF4 protein were determined by immunohistochemistry, and their relationship with the prognosis of primary central nervous system lymphoma was analyzed. RESULTS: Univariate analysis showed that BCL-6 positive means shorter PFS (P=0.047) and OS (P=0.035). Multivariate analysis showed that BCL-6 positive expression was related with shorter PFS (hazard ratio:1.95, 95% CI: 1.22- 3.12, P=0.005), but did not relate with OS (hazard ratio: 1.85, 95% CI: 0.71- 4.80, P=0.21). Classification based on Hans algorithm and expression status of the single B-cell markers BCL-2, CD10 and MUM1/IRF4 did not correlate with prognosis. CONCLUSION: BCL-6 may be an unfavorable prognostic biomarker for PCNSL.


Asunto(s)
Neoplasias del Sistema Nervioso Central/genética , Linfoma de Células B Grandes Difuso/genética , Proteínas Proto-Oncogénicas c-bcl-6/metabolismo , Antígenos de Diferenciación , Linfocitos B , Biomarcadores de Tumor , Neoplasias del Sistema Nervioso Central/patología , Humanos , Inmunohistoquímica , Linfoma de Células B Grandes Difuso/patología , Pronóstico , Proteínas Proto-Oncogénicas c-bcl-6/genética
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