CCND1基因870位点多态性同肿瘤遗传易感性关系的Meta分析

是其患肿瘤的一个遗传易感因素.     

甲状腺癌易感基因的研究进展

甲状腺癌是多因素参与的一类复杂性疾病,其病因及发病机制尚不完全清楚。研究表明环境因素与遗传易感因素相互作用是大多数肿瘤的病因,并且遗传易感因素起关键作用。本文就国内外对甲状腺癌易感基因的研究进展做一综述。     

肿瘤易感人群中P53基因突变的意义

越来越多的证据表明,几乎所有类型肿瘤都具有一定的家族聚集性.这种现象除与接触环境致突变物质有关外,另外一个更为重要的因素是体内存在肿瘤易感基因.近年来,通过分子基因技术已经对一些肿瘤易感基因进行了染色体定位.这些基因包括视网膜母细胞瘤基因(Rb基因)、神经纤维瘤基因(WT_1基因)、家族性多发性结肠息肉APC基因及Li-Fraumeni综合征P53基因.利用染色体及基因技术研究遗传疾病,已经积累了大量的经验.然而,到目前为止,对于肿瘤易感基因遗传突变理论的研究还是很有     

甲状腺癌易感基因的研究进展

甲状腺癌是多因素参与的一类复杂性疾病，其病因及发病机制尚不完全清楚。研究表明环境因素与遗传易感因素相互作用是大多数肿瘤的病因，并且遗传易感因素起关键作用。本文就国内外对甲状腺癌易感基因的研究进展做一综述。     

伴先天易感因素和复杂基因突变的难治复发儿童急性髓系白血病一例并文献复习

目的：提高对伴先天易感因素和继发复杂基因突变的难治复发儿童急性髓系白血病（AML）的认识。方法报道1例难治复发的儿童AML患者,结合病史资料和实验室检查对其分子生物学异常进行分析。结果患儿为男性,于2岁6个月时发病,诊断为AML（AML1-ETO阳性,M2型）,经多种髓系化疗方案治疗后复发2次。患儿同时有胚系TET2、NOTCH1基因突变,体细胞CALR、KIT基因突变和复杂染色体核型。结论先天肿瘤易感基因突变可能是该患儿早期发病及复发的因素之一, CALR和KIT基因突变可能协同发挥促增殖作用,并与复杂染色体异常共同成为难治复发的分子病因。伴有染色体不稳定倾向的患者应尽量避免使用拓扑异构酶抑制剂类化疗药物。     

癌症易感基因及其所致肿瘤综合征的防治策略

癌症易感基因是近几年研究的热点之一.癌症易感基因异常所致的肿瘤综合征具有遗传性及伴有其他器官病变等特性.不同类型的癌症易感基因突变可引起不同的肿瘤综合征.通过对病人肿瘤发生的家族史的了解、遗传学咨询、遗传学试验等措施可以对不同的遗传性肿瘤综合征提出相应的防治策略.     

癌症是可以预防的

肿瘤的发生是遗传基因和生活环境因素共同作用的结果。其中遗传基因是内因,与人体是否具有肿瘤易感基因有关。携带肿瘤易感基因会增加罹患癌症的风险。而外在环境与易感基因相互作用则会增加肿瘤的发病风险。目前发现,除乳腺癌、前列腺癌和大肠癌三种癌症与遗传基因因素关系较大外,大部分肿瘤的发生,环境和生活方式所起的作用都更大一些。从这个角度上看,肿瘤是可以预防的。     

遗传流行病学在肿瘤病因研究中的应用

遗传流行病学是遗传学与流行病学相互渗透产生的一门完整的独立的边缘学科，结合了流行病、生物统计学方法与分子遗传学技术。它是群体遗传学中最年轻和发展最快的分支。遗传流行病学在肿瘤病因研究中发挥着越来越重要的作用，通过遗传流行病学研究阐明遗传与环境在肿瘤发生发展中的相互关系。若存在先天因素，则研究其遗传模式，确定易感基因。     

破译基因组遗传变异 期待肿瘤个体化防治——访中国医学科学院肿瘤研究所林东昕教授

恶性肿瘤是基因与环境交互作用的一类复杂性疾病,病因及发病机制尚不完全清楚。但是,在相同的环境条件下,有的人患癌,有的人却不患癌症,提示个体的遗传因素在肿瘤发生发展中起重要作用。什么是大多数常见肿瘤的遗传易感因素?如果能找到这些因素,是否能用来预防肿瘤或指导个体化治疗?带着这些疑问,记者采访了中国医学科学院肿瘤研究所林东昕教授,请他介绍了遗传因素对于肿瘤预防和治疗方面的重要影响。     

中国汉族家族性及早发性乳腺癌患者BRCA2启动子突变情况的研究

乳腺癌是女性最常见的恶性肿瘤之一.除性别、年龄外,有肿瘤家族史也是乳腺癌发病的1个高危因素.在有乳腺癌家族史的患者中通常都能发现易感基因的突变.目前已发现多个与乳腺癌发病相关的易感基因(breast cancer susceptibility gene,BRCA),而其中BRCA1及BRCA2则是最主要的两个基因 [1-2].     

肝内胆管癌的流行病学特征及危险因素研究进展

与肝门部胆管癌和肝外胆管癌相比，肝内胆管癌是一种少见的胆管恶性肿瘤，它具有独特的临床病程和流行病学特征。全世界范围内，肝内胆管癌的发病率具有很大的地域性差异，且整体发病率呈上升趋势。尽管目前已经确定了几个危险因素，如胆道疾病、感染因素等等，但许多患者并无明确的危险因素。现将其流行病学及发病危险因素作一综述。     

From bench to bedside: experience of the glioblastoma model for the optimization of radiosensitization

Despite significant progress in the treatment of glioblastoma, the prognosis of these radioresistant, invasive and hypoxic tumours remain dark. The constant relapse after treatment of this tumour is in part due to its intra-cellular but also micro-environmental radioresistance, largely controlled by growth factors and their receptors. The complexity of the biology of these tumours and the presence of numerous cross-talks between the pathways of these different growth factors can be in part responsible for the negative results obtained in clinical trials associating radiotherapy and targeted drugs designed without previous in vitro and in vivo studies validating the proof of concept of a specific target as key factor of radioresistance. In the aim to optimize the treatment of glioblastoma and to reduce the risks of failure of new trials, several laboratories and clinical departments are developing translational research in radiotherapy and radiobiology, validating in vitro and then in orthotopic xenografts interesting targets, then studying the radiosensitizing effect of targeted drugs directed against these proteins, studying the mechanisms of action and resistance of these drugs, validating these proteins as predictive factors of response to radiotherapy in the patients, and then designing clinical trials, integrating metabolic or functional imaging and surrogate markers to better understand the mechanism of action of these associations. We describe in this article the main translational research axis developed for radiosensitizing glioblastoma, which our lab and department have pursued for several years.     

The role of haemopoietic growth factors in bone marrow transplantation.

The availability of recombinant haemopoietic growth factors for clinical use has led to a proliferation of trials in the setting of bone marrow transplantation. Early results from these studies, using GM-CSF and G-CSF, show that these factors are able to reduce the period of cytotoxic induced neutropaenia but have little effect on platelet recovery. Toxicity has been relatively mild unless very high doses are administered. Randomised controlled trials are in progress and will help to define the exact role of growth factors in this setting. Future prospects include the increasing availability of other growth factors for clinical use and the potential for combination growth factor therapy to provide a more optimal haemopoietic response.     

Validation of molecular and immunological factors with predictive importance in lung cancer

Histological classification and staging are cornerstones of diagnosis in lung cancer. Treatment options have been enriched in the last few years by the development of a number of new drugs, and therapy is now increasingly being carried out within multimodal concepts and at earlier stages. Still, outcome of the disease is far from satisfactory and progress in clinical and preclinical research is time-consuming. With the whole variety of potent new therapeutic compounds including classical cytostatics and biological factors at hand, many now believe that a clear improvement of treatment results will be derived from a better understanding of the biology of these tumours and a resulting improvement of diagnosis. Biological factors reflecting the underlying tumour biology and aspects of clinically important pathomechanisms may not only better predict outcome of the disease but also of its treatment, serving as surrogate markers for a more appropriate general intensification of therapy and ideally for specific "targeted" interventions. This article describes the different insights in the biology of these tumours in relation with the representing surrogate markers, and opens routes to possible diagnostic and therapeutic consequences.     

角化生长因子及其受体在妇科肿瘤中的研究现状

在妇科肿瘤的诊断中,目前对这些疾病分子方面的检测尚无统一的、明确的标准,以宮颈癌为例,鳞状上皮细胞癌抗原的检测仍是目前研究该类疾病的主要内容之一,人们期望在众多所检测的因子中,能寻找到具有对疾病诊断、预后及治疗等方面更为有效的新兴检测指标.角化生长因子及其受体目前在多种肿瘤中被发现表达异常,与多种肿瘤的发生发展相关,本文就其在妇科肿瘤发生发展中的检测变化、现阶段研究进展加以着重综述,显示了其在不同肿瘤、疾病中作用的多形性,探索变化的规律性,以期对临床诊治疾病获益.     

乳腺癌的蛋白质组学研究

乳腺癌蛋白质组学研究手段众多,尤其以质谱技术发展较快.随着研究的深入,乳腺癌诊断和预后的特异性标志物不断被发现,对指导乳腺癌的临床诊疗和预后判断具有重要意义.     

Prognostic Biomarkers in the Progression From MGUS to Multiple Myeloma: A Systematic Review

Multiple myeloma (MM), characterized by malignant plasma cells in the bone marrow, is consistently preceded by asymptomatic premalignant stage monoclonal gammopathy of undetermined significance (MGUS). These MGUS patients have an annual risk of 1% to progress to MM. Clinical, imaging, and genomic (genetic and epigenetic) factors were identified, whose presence increased the risk of progression from MGUS to MM. In this systematic review we summarize the currently identified clinical, imaging, and genomic biomarkers suggested to increase the progression risk or shown to be differentially expressed/present between both cohorts of patients. Despite the wide range of proposed markers, there are still no reliable biomarkers to individually predict which MGUS patient will progress to MM and which will not. Research on biomarkers in the progression from MGUS to MM will give more insight in the unknown pathogenesis of this hematological malignancy. This would improve research by elucidating new pathways and potential therapeutic targets as well as clinical management by closer follow-up and earlier treatment of high-risk MGUS patients.     

肿瘤转移的分子机制研究进展

肿瘤转移是临床肿瘤病人死亡的最主要原因之一.目前对其研究较多的是有关其分子机制方面,肿瘤转移是一个多阶段复杂的过程,其中包括肿瘤细胞的脱落、迁移、黏附、生长等,每一阶段都受着不同因素的影响和调控.全文介绍近年来此领域的研究进展.     

恶性肿瘤抑郁症的临床研究进展

抑郁是肿瘤患者姑息治疗过程中较为常见的疾病。抑郁症状以及其他心理疾病均降低了病人的生活质量,同时可能是导致癌症死亡率增加的一个独立的危险因素。约75%伴有明显抑郁情绪的癌症患者从未接受过任何心理或药物相关治疗。本文将就肿瘤抑郁症的流行病学、影响因素及诊疗进展等进行综述。