الملخص
Objective To investigate the rate of germline variants in patients with pancreatic cancer and clinical characteristics related with germline variants.Methods A total of 271 patients diagnosed with pancreatic cancer were enrolled in this study.Germline variants of 21 tumor susceptibility genes were detected by next-generation sequencing,and the relationship between germline variants and clinical factors such as age of onset,family history and personal history was analyzed.Results The rate of germline P/LP variants was 6.3%in unselected pancreatic cancer patients,but was high as 17.1%in genetic high-risk group patients(those with a family or personal history of cancer,or early-onset).Genes with higher frequency of germline variants in pancreatic cancer patients were PALB2,BRCA2,and ATM.Conclusion The rate of germline variants in overall pancreatic cancer patients is not high,but it increases significantly in genetic high-risk group,proving the importance of clinical factors in the screening of hereditary pancreatic cancer.
الملخص
Objective To evaluate the value of high-throughput sequencing(HTS)data reanalysis that does not include ERBB2 copy number variation(CNV)analysis,in identifying ERBB2 amplification in patients with colorectal cancer.Methods The HTS data of 252 cases of colorectal cancer diagnosed by pathological biopsy who received peripheral blood cfDNA HTS detection samples were retrospectively analyzed.According to the HTS data of ERBB2 non-amplified samples judged by immunohistochemistry(IHC)and/or fluorescence in situ hybridization(FISH),the number of chromosome 17(Chr17)reads in the total number of reads was calculated the range of the ratio was initially determined as the threshold for prompting ERBB2 amplification.Suspected positive samples were screened according to thresholds and verified by digital PCR,IHC and FISH.Results The proportion of the number of Chr17 reads accounts for the number of total reads in the 89 cases of ERBB2 non-amplified samples determined by IHC and/or FISH ranged from 0.188 to 0.299(0.239±0.192).Using 0.298(1.25 times the mean)as the threshold indicating ERBB2 amplification,the data of 163 samples were analyzed,of which 7 cases were suspected to be positive,and the ratio ranged from 0.302 to 0.853.Among them,5 cases were determined to be positive by IHC and/or FISH,and 6 cases were confirmed to be positive by digital PCR.The ratio of the number of Chr17 reads to the number of total reads was positively correlated with the ratio of ERBB2/EIF2C1,and the correlation was good(r2=0.909).Conclusion The high-throughput sequencing data that does not cover the ERBB2 CNV analysis has a certain hint value for ERBB2 amplification in patients with colorectal cancer.
الملخص
According to the lastest statistics, the overall morbidity and mortality of cancer in China still show an upward trend compared with historical data. An in-depth understanding of the molecular mechanisms of tumorigenesis and development is important to formulate future treatment strategies. Interleukin 11 (IL-11) is a member of cytokines that traditionally promote megakaryocyte maturation and regulate immune activity. In recent years, the promoting effect of IL-11 on tumor has been gradually discovered. This review mainly expounds that IL-11 is regu-lated by transforming growth factor-β/drosophila mothers against decapentaplegic protein (TGF-β/Smad) pathway, and may play a role in tumor-igenesis, drug resistance, metastasis and tumor microenvironment through signal transduction pathways such as Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway and phosphatidylinositol 3 kinase/protein kinase B (PI3K/AKT) pathway, and explores the application prospect of interfering IL-11 signal transduction in tumor therapy.
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Objective To evaluate the efficacy and safety of ligation-assisted endoscopic dissection (ED-L) technique for the removal of gastric tumors originating from muscularis propria.Methods A total of 33 patients with gastric tumors originating from muscularis propria less than 10 mm were treated with ED-L procedures.The tumor was ligated by elastic bands.Endoscopic dissection was performed until the tumor was partially or completely dissected from muscularis propria by using Hook knife and/or IT-knife.The wound was closed with metallic clips and medical adhesive.The patients were followed up 1 week,1 month,3 months,6 months and 12 months thereafter with endoscopy,respectively.Results Of the 33 gastric tumors,there were 25 partial dissections and 8 complete dissections.All of the tumors sloughed completely.Pathological diagnoses of all the patients were acquired.No complications like perforation occurred except for one self-limiting and non-life-threatening hemorrhage.There was no recurrent case during the 3-18 months of follow-up period.Conclusion ED-L is a safe,effective and relatively simple technique for excision of small gastrointestinal tumors originating from muscularis propria,providing a histopathological diagnosis as well.
الملخص
Objective To assess the applicability of the Modification of Diet in Renal Disease (MDRD)formula to kidney function impaired Chinese diabetic patients.Methods Glomerular filtration rates(GFRs)in 463 Chinese diabetic patients(219 female,244 male,aged 14 to 88)were estimated by measuring ~(99m)Tc-DTPA clearance and with equations based on serum creatinine(Scr)and cystatin C(Cys C)concentrations.GFRs derived from various equations were compared with the ~(99m)Tc-DTPA clearance GFRs and their relative accuracies were assessed with ROC analysis.All the Scr measurements were performed with both the Roche enzymatic assay and the Beckman LX20 kinetic alkaline picrate assay,and Cys C with immunonephelometric and immunoturbidimetric assays.Results The reciprocals of Cys C and Scr were linearly correlated with ~(99m)Tc-DTPA clearance GFRs(r=0.830 and 0.690,repectively).The correlation of GFR with Scr could be expressed by an adjusted MDRD equation:GFR [ ml?(min?1.73 m~2)~(-1)]=175?(Scr)~(-1.154)?(age)~(-0.203)?0.742(female)?0.827,where 0.827 was a coefficient for Chinese.The adjusted equation showed a better accuracy than the MDRD equation(areas under the ROC curve 0.818 vs 0.644).The adjusted equation was also more accurate than equations obtained in previous Chinese studies.GFRs were also estimated by using Cys(in mg/L)with the following equation:GFR [ ml?(min?1.73 m~2)~(-1)] = 63.24?(Cys C)~(-0.3378).The accuracy of the Cys equation was similar to the Scr equation,or better in patients aged 60 and above.The Roche enzymatic results which were traceable to the isotope dilution mass spectrometry(IDMS)methods were significantly lower than Beckman LX20 results,but the results were closely correlated with each other(Y = 0.94X-0.02).When non-traceable Scr results were used,the coefficient needed to be adjusted.Conclusions GFRs can be estimated with equations based on either Scr or Cys C.GFR estimation should use standardized Scr results and take into account ethnic effects.