Two different mutational types of familial gastrointestinal stromal tumors: Two case reports.

BACKGROUND: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal (GI) tract, and cases of GISTs tend to be of the disseminated type, with a global incidence of 10 to 15 cases/million each year. The rarer familial GISTs, which often represent a population, differ in screening, diagnosis, and treatment. Familial GISTs include primary familial GISTs with predominantly KIT/PDGFRA mutations and wild-type GISTs. However, whether the same genetic family has different phenotypes has not been reported. CASE SUMMARY: We report two cases of rare GISTs in the same family: A male patient with the V561D mutation in exon 12 of the PDGFRA gene, who has been taking the targeted drug imatinib since undergoing surgery, and a female patient diagnosed with wild-type GIST, who has been taking imatinib for 3 years since undergoing surgery. The favorable prognosis of these patients during the 7-year follow-up period validates the accuracy of our treatment strategy, and we have refined the entire process of diagnosis and treatment of familial GISTs in order to better manage this rare familial disease. CONCLUSION: Different mutation types of familial GISTs in the same family are very rare, thus it is very important to make the correct diagnosis and treatment strategies according to the results of molecular detection for the management of familial GISTs.

Advances in immunotherapy of M2 macrophages and gastrointestinal stromal tumor.

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal-derived tumors of the GI tract. They can occur throughout the GI tract, and the survival time of some patients can be improved by first-line targeted therapy with imatinib. However, there are some limitations with imatinib treatment. Immunotherapy for GIST has attracted much attention in recent years, and as one of the most abundant cells in the GIST microenvironment, M2 macrophages play an important role in disease progression. They have unique anti-inflammatory and pro-tumorigenic effects and are one target for immunotherapy. This review summarizes the connection between different factors and the programmed death receptor-1/programmed death ligand-1 pathway and M2 macrophages to reactivate or enhance anti-tumor immunity and improve imatinib efficacy, and to provide new ideas for GIST immunotherapy.

Can T-tube drainage be replaced by primary suture technique in laparoscopic common bile duct exploration? A meta-analysis of randomized controlled trials.

BACKGROUND: Although laparoscopic common bile duct exploration (LCBDE) is considered the best treatment and has the advantages of being minimally invasive for common bile duct (CBD) stones, the choice of T-tube drainage (TTD) or primary duct closure (PDC) after LCBDE is still controversial. Therefore, the aim of the study was to compare the superiority of PDC versus TTD after LCBDE for choledocholithiasis. METHODS: All potential studies which compare the surgical effects between PDC with TTD were electronically searched for in PubMed, Web of Science, and the Cochrane library databases up to November 2019. Data synthesis and statistical analysis were carried out using RevMan 5.3 software. RESULTS: In total, six randomized controlled trials with 604 patients (307 in the PDC group and 297 in the TTD group) were included in the current meta-analysis. As compared with the TTD group, the pooled data showed that PDC group had shorter operating time (WMD = -24.30; 95% CI = -27.02 to -21.59; p < 0.00001; I2 = 0%; p < 0.88), less medical expenditure (WMD = -2255.73; 95% CI = -3330.59 to -1180.86; p < 0.0001; I2 = 96%; p < 0.00001), shorter postoperative hospital stay (OR = -2.88; 95% CI = -3.22 to -2.54; p < 0.00001; I2 = 60%; p < 0.03), and lower postoperative complications (OR = 0.49; 95% CI = 0.31 to 0.78; p = 0.77; I2 = 0%; p = 0.003). There were no significant differences between the two groups concerning bile leakage (OR = 0.74; 95% CI = 0.36 to 1.53; p = 0.42; I2 = 0%; p = 0.90) and retained stones (OR = 0.96; 95% CI = 0.36 to 2.52; p < 0.93; I2 = 0%; p < 0.66). CONCLUSIONS: LCBDE with PDC should be performed as a priority alternative compared with TTD for choledocholithiasis.

Association of Romo1 gene genetic polymorphisms with risk of gastric cancer in northwestern Chinese population.

Increased expression of reactive oxygen species modulator 1 protein-triggered reactive oxygen species production was reported in the mitochondria of various cancer cell lines. To date there is no report on association between Romo1 gene polymorphisms and gastric cancer risk. To investigate the relationship between Romo1 gene polymorphisms and GC risk, we conducted a case-control study in a population from northwest China (358 GC patients and 412 healthy controls). The genotypes of two SNPs were determined with PCR-denaturing high-performance liquid chromatography and direct DNA sequencing. We found that the genotype and allele distributions of two polymorphisms were significantly different in GC patients compared with controls, When the wild type of two loci were served as the reference group, respectively, significantly increased risk for gastric cancer were associated with rs6060566 TC genotype (Adjusted OR = 1.525, 95 % CI =1.126-2.138), rs6060567 GC genotype (Adjusted OR = 1.641, 95 % CI =1.238-2.291) and CC genotype (Adjusted OR = 1.594, 95 % CI =1.102-2.973). This effect was more pronounced in patients with smoking, alcohol consumption, H.pylori infection,and male patients subgroups. Haplotypes analysis of two genetic variants showed that the most common haplotype TG displayed the strongest evidence of association with GC (corrected P = 9.30 × 10(-5)), and was associated with protection against GC (OR = 0.584). Whereas the CC haplotypes had significant correlation with GC risk (OR = 1.732). These findings suggested genetic polymorphisms of Romo1 gene were associated with significant risk of GC in Northwestern Chinese population, which is strengthened by alcohol use, smoking, H.pylori infection or male patients.

Octreotide for advanced hepatocellular carcinoma: a meta-analysis of randomized controlled trials.

PURPOSE: To evaluate the effectiveness of octreotide in advanced hepatocellular carcinoma participants on the basis of randomized controlled trials. METHODS: We searched the Cochrane Center Register of Controlled Trials in The Cochrane Library, PubMed, EMBASE, Chinese Biomedical Literature Database, China Journal Full-text Database, Chinese Scientific Journals Database up to June 2008 in any language. Randomized controlled trials of octreotide for advanced hepatocellular carcinoma were selected and evaluated by two investigators. Any disagreement was solved by discussion. Analyses were performed using Review Manager 4.2. RESULTS: Six randomized controlled trials totaling 352 participants were included. The median survival time was reported in four randomized controlled trials. The results between the octreotide group and the control group (the placebo or best supportive care group) were as follows: 13.0 versus 4.0 months, 1.93 versus 1.97 months, 4.7 versus 5.3 months, and 7.0 versus 2.5 months. Three randomized controlled trials reported 6-month survival rates and 12-month survival rates and meta-analysis results in these two outcomes [(RR 1.35, 95% CI 0.92-1.97); (RR 1.35, 95% CI 0.66-11.16) respectively] were not found to be statistically significant by random-effects model. When we analyzed 6-month survival rates by fixed-effect model (RR 1.30, 95% CI 1.02-1.66), meta-analysis result reached statistical significance. CONCLUSIONS: As for the limitations of the included trials, the result may not demonstrate a significant superiority of octreotide administration in participants with advanced hepatocellular carcinoma from the available evidence.