Research progress on MiT family translocation related renal cell carcinoma / 中华泌尿外科杂志

Microphthalmia-associated transcription (MiT) family translocation related renal cell carcinoma (RCC) is an important type of renal cell carcinoma, which was included in the new classification of renal tumors by the World Health Organization (WHO) as an independent subtype in 2016. This type of renal cell carcinoma mainly includes Xp11.2 translocation /TFE3 gene fusions associated with renal cell carcinoma and T (6; 11)(p21; q12)/TFEB gene fusion-associated renal cell carcinoma, which has similar clinical features, histology, immunohistochemistry, and molecular genetics, but is significantly different from other renal cell carcinomas. In this review, the clinicopathology and genetics of MiT family translocation associated renal cell carcinoma were reviewed in order to provide guidance and help to the clinical and pathologic work.

Polymorphisms of mTORC1 genes and risk of primary colorectal adenocarcinoma in Chinese populations / 中华病理学杂志

Objective@#To study the associations between variants of mTORC1 of PI3K/AKT/mTOR pathway and colorectal cancer.@*Methods@#In this hospital-based case-control study, at the First Affiliated Hospital, Xinjiang Medical University from 2000 to 2013, 665 primary colorectal cancer cases and 695 cancer-free controls were genotyped at 10 potentially functional single nucleotide polymorphism (SNPs) loci of mTORC1 (mTOR: rs1034528, rs2295080; Raptor: rs1062935, rs3751934; mLST8: rs3160, rs26865; DEPTOR: rs2271900, rs4871827; AKT1S1: rs2290774, rs2353005) to assess their associations with risk of colorectal cancer by Logistic regression analysis.@*Results@#In single-locus analysis, found a significantly decreased risk of colorectal cancer associated with mLST8 rs26865 by recessive genetic model, especially in populations of ≤68 years of age (OR=0.64; 95%CI=0.43-0.96, P=0.031), female (OR=0.61; 95%CI=0.38-0.99, P=0.046), non-smoking (OR=0.55; 95%CI=0.35-0.87, P=0.010). mTOR rs1034528 CC genotypes were associated with higher risk of colorectal cancer in >68-year-old populations (OR=3.34; 95%CI=1.12-9.91, P=0.030). Raptor rs3751934 CA/AA genotypes were associated with lower colorectal cancer risk in population of body mass index(BMI)>25 kg/m2 (OR=0.68; 95%CI=0.47-0.98, P=0.038); and AKT1S1 rs2290774 CC genotypes were associated with lower colorectal cancer risk in non-smoking population (OR=0.67; 95%CI=0.45-0.99, P=0.048). Furthermore, found that populations carrying more than two low-risk genotypes were associated with lower colorectal cancer risk, compared with that of populations carrying less than two low-risk genotypes (OR=0.74, 95%CI=0.58-0.95, P=0.017), especially in population of ≤68 years of age, male and BMI>25 kg/m2, and non-smoking.@*Conclusions@#SNPs of mTORC1-related genes individually or jointly contribute to colorectal cancer susceptibility in Chinese. Further studies of larger cohorts are needed to validate the findings.

Alterations in vascular reactivity in single- and double-transgenic mice coexpressing human APP-C100 and mutant SOD(1) genes / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To explore the mechanism underlying changes in microvascular reactivity in single- and double-transgenic mice.</p><p><b>METHODS</b>Peripheral vascular reactivity to the vasodilators, acetylcholine and sodium nitroprusside, on perfused microvasculature of the hind footpad was investigated using nontransgenic mice, single-transgenic mice expressing the human APP-C100 (TgC100. WT or TgC100. V717F) and double-transgenic mice coexpressing human APP-C100 and human SOD(1) (G93A) genes.</p><p><b>RESULTS</b>Single TgC100 and double Tg mice C100/SOD(1) (G93A) at 2 - 3 months old showed a statistical decrease of 28% in blood flux compared to nontransgenic control mice. In addition, vasodilative responsiveness was markedly reduced to 34% in 8 - 9 months old TgC100 mice compared to control mice. There was no significant difference in the profile of vasodilative reaction between TgC100. WT and TgC100. V717F mice. TgC100 and double Tg mice also had higher levels of A beta peptide in plasma than nontransgenic mice (P < 0.01).</p><p><b>CONCLUSIONS</b>The present study suggests that the altered reactivity of the microvasculature may be mediated by circulating soluble A beta peptides. The mechanisms underlying the vasoactivity of circulating A beta in TgC100 and double Tg mice may involve both the endothelium and nonendothelium.</p>