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@#弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)是一种起源于B淋巴细胞的侵袭性恶性肿瘤,是世界上 最常见的非霍奇金淋巴瘤。多种基因的遗传损伤引发B细胞内NF-κB信号通路持续性激活,促进B细胞恶性增殖,从而导致肿 瘤生成。NF-κB信号通路的组成性激活在DLBCL的发病机制中起着重要作用,因此抑制NF-κB信号通路的过度激活成为DLBCL治疗研究的热点。近年来,多种NF-κB信号通路相关靶向抑制剂相继开发并进行临床试验。本文主要阐述DLBCL中B细胞 受体和Toll样受体依赖性NF-κB信号通路异常激活的遗传学机制,及其在DLBCL发生和发展过程中的作用,并总结该信号通路 靶向抑制剂的临床研究进展,旨在为DLBCL治疗方案的选择和靶向药物的开发提供参考依据。
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@#]复发和转移是影响鼻咽癌患者预后和生存质量的主要原因。目前临床上主要使用基于解剖学的TNM分期标准,并不能 准确反映患者的预后情况,因此需要开发新的更为精准的鼻咽癌预后判断标准。通过对鼻咽癌发病机制的研究,分子标志物在 鼻咽癌预后过程的预测价值日益引起关注。本文总结了近年来在鼻咽癌增殖、生存和侵袭转移等方面的研究进展,以及在这些 研究过程中发现的相关分子标志物和它们在临床预后评估中的作用,综合分析这些分子标志物差异性表达与临床患者生存之间 的相关性,证明了这些分子标志物在评估患者预后中的潜在价值。随着对鼻咽癌发病机制研究的深入,将会发现更多有价值的 分子标志物,这为建立更为精准的鼻咽癌预后评估方法提供了可能。
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Genetic factors play a significant role in influencing the variation of age at natural menopause (AANM). Estrogen receptor beta (ESR2), is an important factor in the mechanism of action of estrogen, while the aromatase gene (CYP19) and the 17-alpha-hydroxylase gene (CYP17) are involved in the biosynthesis of estrogen. We tested whether polymorphisms of ESR2, CYP19 and CYP17 genes are associated with AANM in Caucasian females. A total of 52 SNPs (17 for ESR2, 28 for CYP19, and 7 for CYP17) were successfully genotyped for 229 Caucasian women having experienced natural menopause. Comprehensive statistical analyses focusing on the association of these genes with AANM were conducted. The effects of age, height and age at menarche on AANM were adjusted when conducting association analyses. We found that six SNPs (2, 6-7, 9, 13 and 16) within ESR2 were not significantly associated with AANM after Bonferroni correction. However, two blocks of ESR2 were associated with AANM. For CYP19, two SNPs (24 and 27) were nominally associated with AANM. No significant association was observed between CYP17 and AANM. Our results suggest that genetic variation in the ESR2 and CYP19 genes may influence the variation in AANM in Caucasian women.