Synchronous manifestation of colorectal cancer and intraductal papillary mucinous neoplasms

High rates of extrapancreatic malignancies,in particular colorectal cancer(CRC),have been detected in patients with intraductal papillary mucinous neoplasm(IPMN).So far,there is no distinct explanation in the literature for the development of secondary or synchronous malignancies in patients with IPMN.In the past few years,some data related to common genetic alterations in IPMN and other affiliated cancers have been published.This review elucidated the association between IPMN and CRC,shedding light on the most relevant genetic alterations that may explain the possible relationship between these entities.In keeping with our findings,we suggested that once the diagnosis of IPMN is made,special consideration of CRC should be undertaken.Presently,there are no specific guidelines regarding colorectal screening programs for patients with IPMN.We recommend that patients with IPMNs are at high-risk for CRC,and a more rigorous colorectal surveillance program should be implemented.

Genetic polymorphisms in genes regulating cell death and prognosis of patients with rectal cancer receiving postoperative chemoradiotherapy

Objective:The identification of biomarkers for predicting chemoradiotherapy efficacy is essential to optimize personalized treatment.This study determined the effects of genetic variations in genes involved in apoptosis,pyroptosis,and ferroptosis on the prognosis of patients with locally advanced rectal cancer receiving postoperative chemoradiotherapy(CRT).Methods:The Sequenom MassARRAY was used to detect 217 genetic variations in 40 genes from 300 patients with rectal cancer who received postoperative CRT.The associations between genetic variations and overall survival(OS)were evaluated using hazard ratios(HRs)and 95%confidence intervals(CIs)computed using a Cox proportional regression model.Functional experiments were performed to determine the functions of the arachidonate 5-lipoxygenase(ALOX5)gene and the ALOX5 rs702365 variant.Results:We detected 16 genetic polymorphisms in CASP3,CASP7,TRAILR2,GSDME,CASP4,HO-1,ALOX5,GPX4,and NRF2 that were significantly associated with OS in the additive model(P<0.05).There was a substantial cumulative effect of three genetic polymorphisms(CASP4 rs571407,ALOX5 rs2242332,and HO-1 rs17883419)on OS.Genetic variations in the CASP4 and ALOX5 gene haplotypes were associated with a higher OS.We demonstrated,for the first time,that rs702365[G]>[C]represses ALOX5 transcription and corollary experiments suggested that ALOX5 may promote colon cancer cell growth by mediating an inflammatory response.Conclusions:Polymorphisms in genes regulating cell death may play essential roles in the prognosis of patients with rectal cancer who are treated with postoperative CRT and may serve as potential genetic biomarkers for individualized treatment.

Role of Genetic Ancestry in Oropharyngeal Squamous-Cell Carcinoma: A Cross-Sectional Study in Brazil

Background: HPV infection represents an important etiologic factor for Oropharyngeal Squamous Cell Carcinoma (OPSCC). The different ethnic backgrounds could be related to different susceptibility to Human Papillomavirus (HPV). The aim of our study was to assess the whole of genetic ancestry in HPV status in OPSCC patients. Methods: We conducted a cross-sectional study on patients with OPSCC admitted to the Barretos Cancer Hospital, Brazil from 2014 to 2019. Of these, DNA extraction was performed on 40 patients and genetic ancestry was assessed using a specific panel of 46 informative ancestry markers. Results: We observed a predominance of European ancestry (63%), followed by African (18%), Amerindian (9%) and Asian (8%) both in the OPSCC HPV-positive and HPV-negative group. We did not find any statistically significant differences between the HPV-positive and HPV-negative OPSCC groups in relation to European (p = 0.499), African (p = 0.448), Asian (p = 0.275) or Amerindian (p = 0.836) ancestry. Conclusions: We found a predominance of European ancestry, both in the HPV-positive and HPV-negative groups. In our study, we did not find statistically significant differences between HPV-positive or HPV-negative groups in relation to ancestry.

SH2B3基因在髓系肿瘤中的突变位点及频率分析

目的:分析SH2B接头蛋白3(SH2B3)基因在髓系肿瘤中的突变位点及频率。方法:回顾性分析2017年11月至2022年11月首都医科大学宣武医院血液内科髓系肿瘤相关基因靶向DNA测序结果,筛选出携带SH2B3基因突变的患者,收集患者人口学资料及临床资料,分析SH2B3基因突变类型、突变位点、发生频率、共突变基因以及与疾病间的关系。结果:测序结果来自1005例患者,有19例患者检测到SH2B3基因突变,其中错义突变18例(94.74%),无义突变1例(5.26%),10例患者同时伴发其他突变(52.63%),突变等位基因频率(VAF)分布于0.03-0.66;发生频率最高的突变为p.Ile568Thr(5/19,26.32%),平均VAF为0.49,涉及1例MDS/MPN-RS(伴SF3B1突变)、1例MDS-U(伴SF3B1突变)、1例再生障碍性贫血伴PNH克隆(伴PIGA和KMT2A突变)、2例MDS-MLD(其中1例伴SETBP1突变);其余突变包括2例p.Ala567Thr(10.53%),p.Arg566Trp、p.Glu533Lys、p.Met437Arg、p.Arg425Cys、p.Glu314Lys、p.Arg308*、p.Gln294Glu、p.Arg282Gln、p.Arg175Gln、p.Gly86Cys、p.His55Asn和p.Gln54Pro各1例。结论:SH2B3基因在髓系肿瘤中突变位点分布较广,重现性低,其中p.Ile568Thr突变发生率较高,常与其他疾病特征性突变共存。

基于脂质代谢相关转移风险基因的肝细胞癌患者预后预测模型的构建

目的基于相关数据库分析筛选肝细胞癌(HCC)脂质代谢相关转移风险基因,并联合其他临床危险因素构建患者的预后预测模型。方法应用R软件从GEO数据库中获得原发性和转移性HCC患者的差异表达基因(DEGs),并筛选与患者预后相关的DEGs。将TCGA数据库中的HCC患者通过层次聚类分为两组,评估两组患者EMT评分、脂质代谢水平和预后。应用ICGC数据库中的数据再次对上述分析进行验证。应用LASSO回归模型筛选脂质代谢相关转移风险基因并进行风险评分,通过风险评分中位数分别将TCGA和ICGC数据库中HCC患者分为高、低危组,并分析患者的预后。应用单因素和多因素Cox回归分析获得影响HCC患者预后的独立危险因素,并构建列线图预后模型。采用Western blot和油红O染色检测应用脂质代谢抑制剂Fatostatin后Huh7细胞脂质代谢的情况;采用qPCR技术检测Huh7细胞中脂质代谢相关转移风险基因表达水平。结果从GEO数据库中获得原发性和转移性HCC患者的DEGs共159个,其中65个DEGs与HCC患者的OS显著相关。通过EMT评分将TCGA数据库中聚类所得的两组HCC患者分别定义为高、低转移风险组。高转移风险组患者脂质代谢评分更高,OS更短。在ICGC数据库中验证的结果与TCGA数据库一致。应用LASSO回归模型筛选出脂质代谢相关转移风险基因,高危组OS更短。将脂质代谢相关转移风险基因与影响HCC患者预后的独立危险因素相结合,构建预后预测列线图模型。细胞实验证实,应用Fatostatin后,Huh7细胞的脂肪酸合酶表达降低,细胞内脂滴含量减少,多种脂质代谢相关转移风险基因表达发生变化。结论基于数据库分析获得了13个脂质代谢相关转移风险基因,将这些基因和临床危险因素联合构建了HCC患者的预后预测模型,并通过细胞实验初步验证了脂质代谢相关转移风险基因与脂质代谢密切相关。

Cytochrome P450 2E1 genetic polymorphism and gastric cancer in Changle,Fujian Province

AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic activation of procarcinogens such as N-nitrosoamines and low molecular weight organic compounds. The purpose of this study is to determine whether CYP450 2E1 polymorphisms are associated with risks of gastric cancer. METHODS: We conducted a population based case-control study in Changle county, Fujian Province, a high-risk region of gastric cancer in China. Ninety-one incident gastric cancer patients and ninety-four healthy controls were included in our study. Datas including demographic characteristics, diet intake, and alcohol and tobacco consumption of individuals in our study were completed by a standardized questionnaire.PCR-RFLP revealed three genotypes:heterozygote (C1/C2) and two homozygotes (C1/C1 and C2/C2) in CYP2E1. RESULTS: The frequency of variant genotypes (C1/C2 and C2/C2) in gastric cancer cases and controls was 36.3% and 24.5%, respectively. The rare homozygous C2/C2 genotype was found in 6 individuals in gastric cancer group(6.6%), whereas there was only one in the control group (1.1%). However, there was no statistically significant difference between the two groups (two-tailed Fisher's exact test P=0.066). Individuals in gastric cancer group were more likely to carry genotype C1/C2 (odds ratio, OR=1.50) and C2/C2 (OR=7.34) than individuals in control group (chi(2) =4.597, for trend P=0.032). The frequencies of genotypes with the C2 allele (C1/C2 and C2/C2 genotypes) were compared with those of genotypes without C2 allele (C1/C1 genotype) among individuals in gastric cancer group and control group according to the pattern of gastric cancer risk factors. The results show that individuals who exposed to these gastric cancer risk factors and carry the C2 allele seemed to have a higher risk of developing gastric cancer. CONCLUSION: Polymorphism of CYP2E1 gene may have some effect in the development of gastric cancer in Changle county, Fujian Province.

Genetic factors determining the host response to Helicobacter pylori

INTRODUCTIONThe strongest evidence that H.pylori infection isthe cause of peptic ulcer is that treatment withantibiotics as the only regimen,is not only effectivefor the clearance and eradication of the infection,but more importantly for the healing of the ulcer orthe remission of gastric lymphoma.However,it isstill a matter of controversy and research as to

Epigenetic changes of pituitary tumor-derived transforming gene 1 in pancreatic cancer

BACKGROUND: Pancreatic cancer is a devastating disease with abnormal genetic changes. The pituitary tumor-derived transforming gene (PTTG) is considered to be implicated in the tumorigenesis of cancers when the gene is epigenetically transformed. In this study, we investigated the relationships between aberrant expression and epigenetic changes of the PTTG1 gene in pancreatic cancer. METHODS: We chose 4 cell lines (PANC-1, Colo357, T3M-4 and PancTu I) and pancreatic ductal adenocarcinoma (PDAC) tissues. After using restriction isoschizomer endonucleases (Msp I /Hpa II) to digest the DNA sequence (5'-CCGG-3'), we performed PCR reaction to amplify the product. And RT-PCR was applied to determine the gene expression. RESULTS: The mRNA expression of the PTTG1 gene was higher in pancreatic tumor than in normal tissue. The gene was also expressed in the 4 PDAC cell lines. The methylation states of the upstream regions of the PTTG1 gene were almost identical in normal, tumor pancreatic tissues and the 4 PDAC cell lines. Some (5'-CCGG-3') areas in the upstream region of PTTG1 were methylated, while some others were unmethylated. CONCLUSIONS: The oncogene PTTG1 was overexpressed in pancreatic tumor tissues and verified by RT-PCR detection. The methylation status of DNA in promoter areas was involved in the gene expression with the help of other factors in pancreatic cancer.

Blastic Plasmacytoid Dendritic Cell Neoplasm:Progress in Cell Origin,Molecular Biology,Diagnostic Criteria and Therapeutic Approaches

Blastic plasmacytoid dendritic cell neoplasm(BPDCN)is a rare hematological malignancy characterized by recurrent skin nodules,an aggressive clinical course with rapid involvement of hematological organs,and a poor prognosis with poor overall survival.BPDCN is derived from plasmacytoid dendritic cells(pDCs)and its pathogenesis is unclear.The tumor cells show aberrant expression of CD4,CD56,interleukin-3 receptor alpha chain(CD 123),blood dendritic cell antigen 2(BDCA 2/CD303),blood dendritic cell antigen 4(BDCA4)and transcription factor(E protein)E2-2(TCF4).The best treatment drugs are based on experience by adopting those used for either leukemia or lymphoma.Relapse with drug resistance generally occurs quickly.Stem cell transplantation after the first complete remission is recommended and tagraxofusp is the first targeted therapy.In this review,we summarize the differentiation of BPDCN from its cell origin,its connection with normal pDCs,clinical characteristics,genetic mutations and advances in treatment of BPDCN.This review provides insights into the mechanisms of and new therapeutic approaches for BPDCN.

GSTM1,GSTT1,GSTP1 and CYP1A1 genetic polymorphisms and susceptibility to esophageal cancer in a French population:Different pattern of squamous cell carcinoma and adenocarcinoma

AIM:To evaluate the association between CYP1A1 and GSTs genetic polymorphisms and susceptibility to esophageal squamous cell carcinoma(SCC)and esophageal adenocarcinoma(ADC)in a high risk area of northwest of France. METHODS:A case-control study was conducted to investigate the genetic polymorphisms of these enzymes (CYPIAI*2C and GSTP1 exon 7 Val alleles,GSTMI*2/*2 and GSTTl *2/*2 null genotypes).A total of 79 esophageal cancer cases and 130 controls were recruited. RESULTS:GSTMI*2/*2 and CYPIAI*IA/*2C genotype frequencies were higher among squamous cell carcinomas at a level dose to statistical significance(OR =1.83,95% CI 0.88-3.83,P=0.11;OR=3.03,95% CI 0.93-9.90,P=0.07, respectively).For GSTP1 polymorphism,no difference was found between controls and cases,whatever their histological status.Lower frequency of GSTT1 deletion was observed in ADC group compared to controls with a statistically significant difference(OR=13.31,95% CI 1.66-106.92,P<0.01). CONCLUSION:In SCC,our results are consistent with the strong association of this kind of tumour with tobacco exposure.In ADC,our results suggest 3 distinct hypotheses: (1)activation of exogenous procarcinogens,such as small halogenated compounds by GSTT1;(2)contribution of GSTT1 to the inflammatory response of esophageal mucosa,which is known to be a strong risk factor for ADC, possibly through leukotriene synthesis;(3)higher sensitivity to the inflammatory process associated with intracellular depletion of glutathione.

Efficacy Differences of First-line EGFR-TKIs Alone vs in Combination with Chemotherapy in Advanced Lung Adenocarcinoma Patients with Sensitive EGFR Mutation and Concomitant Non-EGFR Genetic Alterations

Background and objective:Epidermal growth factor receptor(EGFR)mutations are often associated with non-EGFR genetic alterations,which maybe a reason for the poor efficacy of EGFR tyrosine kinase inhibitors(TKIs).Here we conducted this study to explore whether EGFR-TKIs combined with chemotherapy would benefit advanced lung adenocarcinoma patients with both sensitive EGFR mutation and concomitant non-EGFR genetic alterations.Materials and methods:Cases of advanced lung adenocarcinoma with EGFR mutation combined with concomitant nonEGFR genetic alterations were retrospectively collected.And the patients were required to receive first-line EGFR-TKIs and chemotherapy combination or EGFR-TKIs monotherapy.Demographic,clinical and pathological data were collected,and the electronic imaging data were retrieved to evaluate the efficacy and time of disease progression.Survival data were obtained through face-to-face or telephone follow-up.The differences between the two groups in objective response rate(ORR),disease control rate(DCR),progression-free survival(PFS)and overall survival(OS)were investigated.Results:107 patients were included,including 63 cases in the combination group and 44 cases in the monotherapy group.The ORR were 78%and 50%(P=0.003),and DCR were 97%and 77%(P=0.002),respectively.At a median follow-up of 13.7 mon,a PFS event occurred in 38.1%and 81.8%of patients in the two groups,with median PFS of18.8 mon and 5.3 mon,respectively(P<0.000,1).Median OS was unreached in the combination group,and 27.8 mon in the monotherapy group(P=0.31).According to the Cox multivariate regression analysis,combination therapy was an independent prognostic factor of PFS.Conclusion:In patients with EGFR-mutant advanced lung adenocarcinoma with concomitant non-EGFR genetic alterations,combination of TKIs and chemotherapy was significantly superior to EGFR-TKIs monotherapy,which should be the preferred treatment option.

GSTT1,GSTM1 and CYP2E1 genetic polymorphisms in gastric cancer and chronic gastritis in a Brazilian population

AIM:To test the hypothesis that,in the Southeastern Brazilian population,the GSTT1,GSTM1 and CYP2E1 polymorphisms and putative risk factors are associated with an increased risk for gastric cancer. METHODS:We conducted a study on 100 cases of gastric cancer (GC),100 cases of chronic gastritis (CG),and 150 controls (C).Deletion of the GSTT1 and GSTM1 genes was assessed by multiplex PCR.CYP2E1/Pst1 genotyping was performed using a PCR-RFLP assay. RESULTS:No relationship between GSTT1/GSTM1 deletion and the c1/c2 genotype of CYP2E1 was observed among the three groups.However,a significant difference between CG and C was observed,due to a greater number of GSTT1/GSTM1 positive genotypes in the CG group.The GSTT1 null genotype occurred more frequently in Negroid subjects,and the GSTM1 null genotype in Caucasians,while the GSTM1 positive genotype was observed mainly in individuals with chronic gastritis infected with H pylori. CONCLUSION:Our findings indicate that there is no obvious relationship between the GSTT1,GSTM1 and CYP2E1 polymorphisms and gastric cancer.

Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families

AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes. RESULTS: All five tumor tissues of 4 probands from the 4 typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER+ phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1), which had not been reported previously, were identified. The same mutations were also found in other affected members of two HNPCC families,respectively. CONCLUSION: Typical Chinese HNPCC families showed relatively frequent germline mutation of mismatch repair genes. High-level microsatellite instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of mismatch repair gene might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.

Genetic variation of the PSCA gene(rs2294008) is not associated with the risk of prostate cancer

Prostate stem cell antigen（PSCA） is a cell-membrane glycoprotein consisting of 123 amino acids and highly expressed in the prostate,but there have been few reports on the relationship between rs2294008 of PSCA and prostate cancer in the literature.Therefore,we evaluated the association between rs2294008 and the risk of prostate cancer.A total of 240 prostate cancer patients and 306 controls（patients with benign prostatic hyperplasia） were enrolled.Genotype analysis of rs2294008 of PSCA was performed using PCR.Logistic regression analysis was performed according to the genotype of PSCA rs2294008.We found that CT and TT genotypes were associated with an insignificant risk of prostate cancer compared with the CC genotype（P= 0.627 and 0.397,respectively）.In addition,there was no significant difference in rs2294008 according to clinicopathological parameters,such as age,Gleason score,prostate-specific antigen（PSA）,stage,and metastasis in prostate cancer（P 〉 0.05 for each）.Age,Gleason score,PSA,pathologic stage,and metastasis did not modify the association between PSCA and the risk of prostate cancer（each P 〉 0.05 for each）.Taken together,the genetic polymorphism of PSCA rs2294008 was not associated with the risk of prostate cancer.Our results suggest that rs2294008 may not play a role in prostate carcinogenesis.

A Genetic Epidemiological Study on Esophageal Cancer and Carcinoma of the Gastric Cardia in Cixian County of Hebei Province

OBJECTIVE To investigate the role of family aggregation and genetic factors of esophageal cancer （EC）, including carcinoma of gastric cardia （CGC）, in Cixian county, and to calculate the segregation ratio and heritability of first-degree relatives （FDR） in EC cases.METHODS A case control study was conducted, and each of 285 esophageal cancer cases and FDR＇s case history and family medical history of EC in 1415 controls was carried by home visits to compare the incidence of EC in the crowds. The family aggregation of EC was found by X2 test for goodness of fit test according to binomial distribution. Li-Mantel-Gart method was used to calculate the segregation ratio and Falconer method was employed to compute the heritability （h2）.RESULTS The incidence rate of the FDR in the index case of EC （12.80%） was higher than that in the controls （7.52%）. There were significant differences between the 2 groups （X2= 44.34, P = 0.000）. The distribution of EC in the family did not agree with the binomial distribution, which presented a conspicuous familial aggregation （X2= 288.19, P 〈 0.0001）. The heritability of EC was （29.67 ±4.32）%, and segregation ratio was 0.1814 （95%CI = 0.1574-0.2054）, which is lower than 0.25, and can be regarded as a disease of multi-factorial inheritance.CONCLUSION The occurrence of EC in the Cixian County is the outcome of the mutual effect of genetic and environmental factors. The family history of upper gastrointestinal cancers increases the risk of EC in late generations.

LncRNA SNHG11通过抑制miR-184/CARM1信号轴促进卵巢癌生长

目的探讨长链非编码RNA核仁小分子RNA宿主基因11(LncRNA SNHG11)靶向调控miR-184/CARM1信号轴对卵巢癌细胞的影响及其机制。方法实时荧光定量PCR检测卵巢癌组织与细胞中LncRNA SNHG11表达及卵巢癌细胞miR-184表达。将卵巢癌SKOV3细胞分为si-NC组、si-SNHG11组、si-SNHG11+anti-NC组、si-SNHG11+anti-miR-184组、miR-NC组、miR-184 mimics组、miR-184 mimics+pcDNA组、miR-184 mimics+CARM1组,分别检测各组细胞增殖、凋亡、迁移、侵袭及CARM1、E-cadherin、N-cadherin蛋白表达,裸鼠成瘤实验检测各组细胞在动物体内成瘤能力,双荧光素酶报告基因实验检验miR-184与LncRNA SNHG11、CARM1的靶向关系。结果LncRNA SNHG11在卵巢癌组织与细胞中表达升高,miR-184在卵巢癌细胞中表达降低(P<0.05)。与si-NC组比较,si-SNHG11组SKOV3细胞增殖、迁移与侵袭能力下降,瘤体质量与体积减小,N-cadherin表达降低,细胞凋亡率与E-cadherin蛋白表达升高(P<0.05);与si-SNHG11+anti-NC组比较,si-SNHG11+anti-miR-184组SKOV3细胞增殖、迁移与侵袭细胞能力升高,瘤体质量与体积增大,N-cadherin蛋白表达升高,细胞凋亡率与E-cadherin蛋白表达降低(P<0.05)。与miR-NC组比较,miR-184 mimics组SKOV3细胞增殖、迁移与侵袭能力下降,瘤体质量与体积减小,N-cadherin蛋白表达降低,细胞凋亡率与E-cadherin蛋白表达升高(P<0.05);与miR-184 mimics+pcDNA组比较,miR-184mimics+CARM1组SKOV3细胞增殖、迁移与侵袭能力升高,瘤体质量与体积增大,N-cadherin蛋白表达升高,细胞凋亡率与E-cadherin蛋白表达降低(P<0.05);LncRNA SNHG11靶向调控miR-184/CARM1信号轴。结论LncRNA SNHG11通过调节miR-184/CARM1信号轴,促进卵巢癌生长。

肺癌发生发展的遗传多样性选择假说——分子进化与临床意义

到目前为止,阐述肿瘤发生发展的单克隆假说不能自圆其说。遗传多样性选择假说将孟德尔遗传学与达尔文进化论联系起来,认为多克隆起源-单克隆选择-亚克隆扩张的肿瘤细胞群遗传多样性是选择压力的结果。正常细胞获得致癌驱动基因突变,相对于其他细胞具有选择优势,成为肿瘤启动细胞;在与肿瘤微环境(tumor microenvironment,TME)的互动中,绝大多数启动细胞会被人体自身免疫系统识别并杀灭,如果发生免疫逃逸,恶性肿瘤的发生率会极大增加,并发生亚克隆扩张、肿瘤内异质性等。本文提出遗传多样性选择假说,并分析其临床意义。

直肠癌术前磁共振成像特征与微卫星不稳定状态的相关性

目的探讨利用直肠癌磁共振成像(MRI)参数预测微卫星不稳定(MSI)状态的可行性。方法242例直肠癌患者根据MSI基因检测结果分为微卫星低度不稳定(MSI-L)组230例和微卫星高度不稳定(MSI-H)组12例。比较两组临床特点和术前MRI参数[如表观扩散系数(ADC)、肿瘤最大轴向长度(ATL)、肿瘤最大纵向长度(LTL)、ATL/LTL、切缘(CRM)、淋巴结转移]差异,分析MSI-H相关影响因素。根据患者的临床病理特征和KRAS、BRAF基因,分析直肠癌患者术前MRI参数与MSI-H状态的相关性,评估ATL、ATL/LTL对直肠癌患者MSI-H的诊断价值。结果两组肿瘤大小、分化程度比较差异有统计学意义(P均<0.05)。MSI-H组ATL和ATL/LTL高于MSI-L组,差异有统计学意义(P均<0.05)。两组ADC、LTL及淋巴结转移、CRM情况差异无统计学意义(P均>0.05)。多因素Logistic回归分析显示,ATL和ATL/LTL是直肠癌患者MSI-H的独立危险因素(P均<0.05)。ATL截断值取13.50 mm,其诊断直肠癌患者MSI-H的敏感度为0.750,特异度为0.909;ATL/LTL截断值取0.287,其诊断直肠癌患者MSI-H的敏感度为0.667,特异度为0.909。结论直肠术前MRI参数与患者MSI-H状态相关,检测ATL、ATL/LTL数据对直肠癌患者MSI-H状态具有较高的诊断价值。

TGF-β1、IL-6及TNF-α基因多态性与纵隔肿瘤患者术后肺部感染的相关性研究

目的 探讨纵隔肿瘤患者术后肺部感染与转化生长因子β1(TGF-β1)、白细胞介素(IL)-6及肿瘤坏死因子-α(TNF-α)基因多态性的关系。方法 选择2016年3月至2022年3月在江西中医药大学附属医院接受纵隔肿瘤切除术后发生肺部感染患者32例(感染组)、同期接受纵隔肿瘤切除术后未发生肺部感染患者30例(对照组)为研究对象,分析TGF-β1、IL-6及TNF-α基因的多态性。结果 感染组血清炎性细胞因子TGF-β1、IL-6以及TNF-α水平均高于对照组,差异均有统计学意义(P<0.05)。TGF-β1基因rs10417924位点基因型为CC、CT、TT,rs4803455位点基因型为CC、CT、TT;两组rs10417924位点基因型和等位基因分布频率比较,差异均有统计学意义(P<0.05),两组rs4803455位点基因型和等位基因分布频率比较,差异均无统计学意义(P>0.05),其中rs10417924位点T等位基因的OR为1.385(95%CI 1.021~1.764)。IL-6基因rs1800796位点基因型为CC、GC、GG,rs2069837位点基因型为AA、GA、GG;两组rs1800796、rs2069837位点基因型和等位基因分布频率比较,差异均无统计学意义(P>0.05)。TNF-α基因rs1800629位点基因型为GG、GA、AA,rs1799724位点基因型为GG、GA、AA;两组rs1800629、rs1799724位点基因型和等位基因分布频率比较,差异均有统计学意义(P<0.05)。其中rs1800629位点A等位基因的OR为1.315(95%CI 1.044~1.653),rs1799724位点A等位基因的OR为1.651(95%CI 1.211~2.584)。3项指标单独检测的曲线下面积(AUC)均小于联合检测的AUC(0.870),联合检查的灵敏度为0.848,特异度为0.774,临界值为0.622 ng/L。结论 血清TGF-β1、IL-6及TNF-α可用于纵隔肿瘤患者术后肺部感染的诊断,且TGF-β1基因rs10417924位点T等位基因、TNF-α基因rs1800629、rs1799724位点A等位基因与患者术后肺部感染有关。

肝血管肉瘤的临床特点及预后总结

目的对我院确诊的1例肝血管肉瘤(hepatic angiosarcoma,HAS)进行报道;并通过文献复习分析总结HAS的临床特点,以提高对本病的认识。方法回顾性分析我院病例及近15年文献报道中HAS病例,总结其临床特点、病理特征、实验室指标、治疗方式及预后。结果78例HAS患者中,男42例,女36例;发病年龄6周~87岁,平均年龄56.6岁。其中腹痛35例,腹胀17例,乏力8例,食欲减退8例,体质量减轻8例,无明显临床症状14例,其余表现为非特异性症状。病毒性肝炎患者10例。氯乙烯接触史2例,矿业化学品接触史1例,皮革制品接触史1例,Th232接触史1例,类固醇药物服用史2例,免疫抑制剂服用史1例,农药接触史1例。肿瘤标志物异常者8例,实验室指标肝功能异常者38例。大部分HAS病例行手术切除治疗,同时化疗、射频消融术、靶向药物、TACE、TAE、肝移植、PD-1抑制剂、同种异体RAK细胞均可用于HAS治疗。所有纳入病例中,25例患者生存期不详,其余患者生存期为2 d~48个月,中位生存期为6个月。结论HAS恶性程度高,进展快,预后很差,临床表现不典型,所以HAS的早期诊断尤为重要,通常超声、CT以及MRI可为HAS的诊断提供重要线索,确诊依赖于病理学检查。目前手术切除是主要的治疗方法,化疗可改善预后,TAE、TACE可用于HAS的辅助治疗,未来靶向分子治疗可能会成为HAS重要的治疗方式。