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排序方式: 共有274条查询结果,搜索用时 19 毫秒
1.
Alessia Cimadamore Liang Cheng Marina Scarpelli Francesco Massari Veronica Mollica Matteo Santoni Antonio Lopez-Beltran Rodolfo Montironi Holger Moch 《Translational andrology and urology》2021,10(3):1506
In 1952, renal cell carcinomas had been divided into 2 categories—clear cell or granular cell—depending upon their cytoplasmic staining characteristics. In the following years, the inventory of renal epithelial tumors has expanded by the addition of tumors named by their architectural pattern (i.e., papillary RCC, tubulocystic RCC), anatomic location (i.e., collecting duct carcinoma, renal medullary carcinoma), associated diseases (i.e., acquired cystic disease-associated RCCs). With the extensive application of molecular diagnostic techniques, it becomes possible to detect genetic distinctions between various types of renal neoplasm and discover new entities, otherwise misdiagnosed or diagnosed as unclassified RCC. Some tumors such as ALK rearrangement-associated RCC, MiT family translocation renal carcinomas, SDH-deficient renal cancer or FH-deficient RCC, are defined by their molecular characteristics. The most recent World Health Organization (WHO) classification of renal neoplasms account for more than 50 entities and provisional entities. New entities might be included in the upcoming WHO classification. The aim of this review is to summarise and discuss the newly acquired data and evidence on the clinical, pathological, molecular features and on the prognosis of new RCC entities, which will hopefully increase the awareness and the acceptance of these entities among clinicians and improve prognostication for individual patients. 相似文献
2.
Microsomal monooxygenases catalyze the biosynthesis of epoxides from olefinic and aromatic compounds whilst microsomal epoxide hydratase and cytoplasmic glutathione S-transferases are responsible for their further biotransformation. Although catalytically very efficient the cytoplasmic glutathione S-transferases play, due to their subcellular localization, a minor role in the inactivation of epoxides derived from large lipophilic compounds and were, therefore, not included in this study. It was shown with such a lipophilic compound, benzo(a)pyrene, as a model substance and with liver enzyme mediated bacterial mutagenesis as biological endpoint that species and strain differences in epoxide hydratase and monooxygenases are reflected in very dramatic differences in mutagenicity of benzo(a)pyrene which varied from extremely potent to a degree which could easily be overlooked. In order to investigate whether the differences in enzyme activities were causally linked to the observed differences in mutagenicity, the enzyme activities were modulated by inhibition and induction. These manipulations were always accompanied by the corresponding changes in mutagenicity.It is concluded that species such as mice which possess high monooxygenase activity but very low epoxide hydratase activity are much more susceptible than man to those toxic effects which are mediated by metabolically formed epoxides which are substrates of epoxide hydratase. In this regard, it is especially noteworthy that mice possess a much lower hepatic epoxide hydratase activity than man.Presented at the Symposium Influence of Metabolic Activations and Inactivations on Toxic Effects held at the 18th Spring Meeting of the Deutsche Pharmakologische Gesellschaft, Section Toxicology, D-6500 Mainz, March 15, 1977 相似文献
3.
目的研究多肿瘤标志物蛋白芯片诊断系统用于胃癌的诊断价值。方法用多肿瘤标志物蛋白芯片诊断系统检测50例正常人,70例胃良性疾病及80例胃癌患者血清中十二种常见的肿瘤标志物:甲胎蛋白(AFP),癌胚抗原(CEA),神经元特异性烯醇化酶(NSE),糖原125(CA125),糖原153(CA153),糖原242(CA242),糖原199(CA199),前列腺特异性抗原(PSA),游离前列腺特异性抗原(f-PSA),铁蛋白(FER),β-人绒毛膜促性腺激素(β-HCG),人生长激素(HGH)的水平并进行统计学分析。结果80例胃癌患者血清有74例血清肿瘤标志物为阳性(阳性率为92.75%),70例良性胃疾病中10例肿瘤标志物为阳性(阳性率为14.28%),50份正常对照血清有1例血清肿瘤标志物为阳性(特异性为98%)。试验还发现部分胃癌患者血清中出现NSE,HGH,PSA,f-PSA。结论多肿瘤蛋白芯片的应用,对胃癌患者的术前肿瘤良恶性的判定有一定的临床应用价值。 相似文献
4.
《Seminars in diagnostic pathology》2018,35(3):161-169
The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes. Specifically, we focus on Carney complex, familial adenomatous polyposis (FAP)-associated cribriform-morular variant of papillary thyroid carcinoma, familial succinate dehydrogenase-related pheochromocytoma/paraganglioma syndromes, hereditary leiomyomatosis and renal cell cancer (HLRCC), medullary thyroid cancer and Multiple Endocrine Neoplasia 2 (MEN2), BAP1 hereditary cancer predisposition syndrome, Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT), and Pancreatic Neuroendocrine Tumor Syndrome (Mahvash disease). 相似文献
5.
Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC 下载免费PDF全文
Rachel Yi Ping Tan Maie Walsh Anne Howard Ingrid Winship 《The Australasian journal of dermatology》2017,58(4):e246-e248
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant condition, which manifests as cutaneous leiomyomas (CL), uterine fibroids and renal cell cancer (RCC). We describe the case of a 53‐year‐old woman who presented with multiple CL with a novel heterozygous canonical splice site mutation in intron 9 of the fumarate hydratase (FH) gene IVS 9–1 G>C ( NM_000143.3 :c 1391–1 G>C) that was not detected on initial screening of a mutation hotspot but was picked up on sequencing the remaining exons and splice site junctions. This report highlights the importance of clinical suspicion in the diagnosis of HLRCC in the absence of a family or personal history of cancer and despite initial genetic testing being negative. 相似文献
6.
目的探讨转化生长因子β1(TGF-β1)、神经元特异性烯醇化酶(NSE)等对出血性脑卒中后脑损伤和临床预后的影响。方法检测103例急性出血性脑卒中患者(出血性脑卒中组)血清TGF-β1、NSE水平并与68例健康体检者(健康对照组)比较,以3个月Barthel指数评分为临床预后指标,各因素进行单因素与多元回归分析。结果出血性脑卒中组患者急性期血清TGF-β1低于健康对照组(P<0.01)。NSE高于健康对照组(P<0.01)。单因素分析,TGF-β1、住院天数为出血性脑卒中患者神经功能恢复好的因素。NSE高、意识障碍程度重、出血量大、入院神经功能缺损评分高、空腹血糖高、外周血白细胞计数高、发热、最高体温高、患者年龄大、合并感染者神经功能恢复差。多元回归分析,血清TGF-β1、NSE、出血量、意识障碍程度、入院神经功能缺损评分影响出血性脑卒中患者临床预后。结论出血性脑卒中患者急性期血清TGF-β1明显下降;重症患者NSE显著增高。 相似文献
7.
8.
CD56与神经内分泌检测对小细胞肺癌诊断应用价值的比较 总被引:2,自引:0,他引:2
目的比较CD56与常用神经内分泌标记对小细胞肺癌诊断应用价值。方法应用免疫组织化学法检测72例经支气管内窥镜和穿刺的小细胞肺癌(SCLC)和20例非小细胞肺癌(NSCLC)活检标本、12例肺炎性假瘤、10例淋巴细胞性胸腺瘤、10例淋巴结转移性小细胞肺癌和20例小B细胞性淋巴瘤标本中CD56、神经元特异性烯醇化酶(NSE)、嗜铬粒蛋白A(CgA),突触素(Syn)和其他抗体的表达。结果SCLC中CD56与NSE、CgA和Syn之间阳性表达率差异有统计学意义(P〈0.01)。CD56和其他抗体可以作为SCLC诊断和鉴别诊断的标记。结论CD56对活检的小细胞肺癌阳性率高,可作为临床病理诊断重要的标记物。 相似文献
9.
10.
Barker KT Bevan S Wang R Lu YJ Flanagan AM Bridge JA Fisher C Finlayson CJ Shipley J Houlston RS 《British journal of cancer》2002,87(4):446-448
Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor. To evaluate fumarate hydratase in respective sporadic tumours, we analysed a series of 26 leiomyosarcomas and 129 uterine leiomyomas (from 21 patients) for somatic mutations in fumarate hydratase and allelic imbalance around 1q43. None of the 26 leiomyosarcomas harboured somatic mutations in fumarate hydratase. Fifty per cent of leiomysarcomas tested showed evidence of allelic imbalance at 1q, but this was not confined to the vicinity of fumarate hydratase. Only 5% (seven out of 129) of the leiomyomas showed allele imbalance at 1q42-q43 and no somatic mutations in fumarate hydratase were observed. Our findings indicate that mutations in fumarate hydratase do not play a major role in the development of sporadic leiomyosarcomas or uterine leiomyomas 相似文献