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关键词： 甲状腺乳头状癌   浸润性生长   组织学形态   肿瘤复发   BRAF   柱状细胞   临床病理学   CDX2  

摘要： 目的分析柱状细胞型甲状腺乳头状癌(columnar cell variant of papillary thyroid carcinoma,CCV-PTC)的临床病理特征及预后,并着重探讨甲状腺癌常见驱动基因突变状态。方法回顾性分析7例CCV-PTC的临床资料及组织学形态,EnVision法进行免疫表型分析,突变阻滞扩增系统(ARMS)-PCR检测BRAF V600E基因突变,Sanger测序检测RAS及端粒酶逆转录酶基因(TERT)启动子基因突变。结果男性4例,女性3例,年龄29~65岁。组织学肿瘤细胞呈柱状、假复层排列,7例均表达甲状腺滤泡上皮标记,1例表达CDX2,p53均呈野生型表达。4例存在BRAF V600E突变(4/7),4例存在TERT启动子突变(4/5),5例均未见RAS突变(0/5)。术后随访8~89个月,4例出现肿瘤复发,2例死亡。结论 CCV-PTC以柱状肿瘤细胞假复层排列为特征,可表达CDX2,具有较高的BRAF V600E及TERT启动子突变率,浸润性生长者预后较差。

关键词： 染色体核型   平衡易位携带   胚胎植入前遗传学检测   高通量测序  

摘要： 目的探讨不同性别平衡易位携带者胚胎植入前遗传学检测(PGT)染色体组构成情况及不同亲本来源对子代染色体形成的影响。方法选取柳州市妇幼保健院2017年1月至2021年6月行外周血染色体检查的不孕不育夫妇进行核型分析,筛选出平衡易位携带者,并对平衡易位携带者夫妇实施辅助生殖技术,对囊胚期胚胎采用高通量测序技术进行PGT,对不同性别的染色体平衡易位携带者囊胚期胚胎染色体组类型和构成情况进行分析比较。结果通过染色体核型分析,共筛选出113对双方之一为染色体平衡易位携带者夫妇,女性携带者42例,男性携带者71例。应用高通量测序行胚胎植入前染色体结构变异检测(PGT-SR),共检测738个囊胚期胚胎,获得可移植胚胎168个,其中来自男性携带者的126个,来自女性携带者的42个。男性相互平衡携带者获得可移植胚胎率、单纯不平衡胚胎率、散发性异常胚胎率、复杂性异常胚胎率分别为27.8%、19.6%、41.6%、38.8%;女性相互平衡携带者获得可移植胚胎率、单纯不平衡胚胎率、散发性异常胚胎率、复杂性异常胚胎率分别为15.5%、25.9%、32.9%、41.2%。不同亲本来源的可移植胚胎率比较,差异有统计学意义(父源27.8%,母源15.5%,χ^(2)=15.253,P<0.05);单纯不平衡胚胎率比较,差异无统计学意义(父源19.6%,母源25.9%,χ^(2)=3.096,P>0.05);不同亲本来源的散发性异常胚胎率比较,差异有统计学意义(父源41.6%,母源32.9%,2=4.310,P<0.05);不同亲本来源的复杂性异常胚胎率比较,差异无统计学意义(父源38.8%,母源41.2%,χ^(2)=0.320,P>0.05)。结论女性相互平衡易位携带者获得可移植胚胎率和散发性异常胚胎率显著低于男性携带者,单纯不平衡胚胎率及复杂性异常胚胎率均高于男性携带者。

关键词： 医学遗传学   报道时差   中华医学会   来稿量   双月刊   中国科学技术协会   变更  

摘要： 随着医学遗传学的快速发展,本刊正在受到越来越多的关注,来稿量不断增加。为缩短报道时差、丰富栏目、活跃交流,经中国科学技术协会、中华医学会和国家新闻出版总署批准,《中华医学遗传学杂志》自2019年起由双月刊变更为月刊发行,定价为每期25.00元,全年300.00元。

关键词： 泪腺肿瘤   腺样囊性癌   MYB   FISH  

摘要： 目的探讨泪腺腺样囊性癌(adenoid cystic carcinoma,ACC)中MYB蛋白表达及分子遗传学特征。方法收集16例泪腺ACC、20例泪腺非ACC,采用免疫组化EnVision法和FISH检测泪腺ACC中MYB蛋白表达和MYB基因易位,分析泪腺ACC病理及分子遗传学特征,并复习相关文献。结果16例泪腺ACC患者年龄为19~74岁,平均49岁,男女比为5∶11,肿瘤最大径0.8~4.5 cm,平均2.6 cm。肿瘤组织主要由导管细胞和肌上皮细胞构成,形成管状、筛状和实性结构,筛孔内可见嗜碱性黏液样物质,并可见神经侵犯。病理学分级Ⅰ级5例,以管状或筛状结构为主,无实性成分;Ⅱ级9例,管状、筛状和实性成分均有,且实性成分≤30%;Ⅲ级2例,管状、筛状和实性成分均有,且实性成分>30%。免疫组化法检测MYB蛋白的阳性率为100%(16/16),其中强阳性5例,中等阳性11例。FISH检测MYB基因易位的阳性率为87.5%(14/16),其中2例FISH检测阴性者免疫组化均为中等阳性。结论泪腺ACC易在眼部局部复发或远处转移,MYB蛋白在泪腺ACC中具有较高的阳性率,免疫组化及FISH检测MYB有助于泪腺ACC与其他疾病进行鉴别。

关键词： Celiac Disease   Intestinal Barrier   Gluten Sensitivity   Therapies   Clinical Studies   Gut Microbiota   Autoimmunity   Probiotics   Genetics   GWAS  

摘要： Celiac disease (CeD) is a frequent immune-mediated disease that affects not only the small intestine but also many extraintestinal sites. The role of gluten proteins as dietary triggers, HLA-DQ2 or -DQ8 as major necessary genetic predisposition, and tissue transglutaminase (TG2) as mechanistically involved autoantigen, are unique features of CeD. Recent research implicates many cofactors working in synergism with these key triggers, including the intestinal microbiota and their metabolites, nongluten dietary triggers, intestinal barrier defects, novel immune cell phenotypes, and mediators and cytokines. In addition, apart from HLA-DQ2 and -DQ8, multiple and complex predisposing genetic factors and interactions have been defined, most of which overlap with predispositions in other, usually autoimmune, diseases that are linked to CeD. The resultant better understanding of CeD pathogenesis, and its manifold manifestations has already paved the way for novel therapeutic approaches beyond the lifelong strict gluten-free diet, which poses a burden to patients and often does not lead to complete mucosal healing. Thus, supported by improved mouse models for CeD and in vitro organoid cultures, several targeted therapies are in phase 2-3 clinical studies, such as highly effective gluten-degrading oral enzymes, inhibition of TG2, cytokine therapies, induction of tolerance to gluten ingestion, along with adjunctive and preventive approaches using beneficial probiotics and micronutrients. These developments are supported by novel noninvasive markers of CeD severity and activity that may be used as companion diagnostics, allow easy-to perform and reliable monitoring of patients, and finally support personalized therapy for CeD.

关键词： 疟疾  

ISBN: (纸本)9787030641748

摘要： 本书主要从生物学和遗传学的角度来系统介绍疟疾的基本知识和研究进展。全书分为九章，即疟疾简史、疟原虫、疟疾医学、蚊媒、疟疾基因组学、疟疾免疫、抗疟药物、青蒿素类抗疟药和药物抗性遗传。

关键词： Benzo[a]pyrene   Immune modulation   TGF-beta   Treg   Lung cancer  

摘要： Overexposure to carcinogenic precursor, benzo[a]pyrene [BaP], modulates the lung immune microenvironment. The present review seeks to elucidate novel pathways behind the tumor effect of BaP in the lungs, emphasizing immunomodulatory mediators and immune cells. In this review, BaP reprograms lung immune microenvironment through modulating transforming growth factor-beta (TGF-beta), programmed cell death 1 (PD-1), cytotoxic T lymphocyte antigen-4 (CTLA-4), Interleukin 12 (IL-12), indoleamine 2,3 dioxygenase (IDO), forkhead box protein P3 (FOXP3) and interferon-gamma (IFN-gamma) levels. Moreover, BaP modulated lung immune cellular architecture such as dendritic cells, T cells, Tregs, macrophages, neutrophils, and myeloid-derived suppressor cells (MDSCs). All mentioned changes in immune architecture and mediators lead to the induction of lung cancer.