ABSTRACT
Objective To investigate the correlation between ITPKB mutation's variant allele frequency (VAF) and prognosis of diffuse large B-cell lymphoma (DLBCL). Methods This study included 155 patients with DLBCL initially diagnosed in the People's Hospital of Xinjiang Uygur Autonomous Region from June 2014 to December 2020. Paraffin-embedded tumor tissue specimens were obtained, and tumor tissue DNA was extracted. A total of 475 hotspot genes including ITPKB were detected by the next generation sequencing to analyze the relationship of the VAF of high-frequency mutant gene with progression-free survival (PFS) and overall survival (OS). Results The mutation frequency of ITPKB was 18.71%. The PFS was significantly shorter in the patients with ITPKB mutations than in those without mutations (37 months vs. 108 months; HR=1.643, 95%CI: 0.920-2.934, P=0.093). The R-language based web tool was used to find the best VAF cutoff to differentiate prognosis. The patients were divided into two groups (VAF High vs. VAF Low+Wt) according to their VAF values. The optimal VAF threshold for ITPKB was 27.48% (HR=3.480, 95%CI: 1.70-7.13, P=0.00027). Multivariate Cox analysis was conducted using clinical indicators such as age, gender, COO classification, IPI, and LDH, and the results showed that PFS was associated with high ITPKB VAF (≥28%) (HR=3.592, 95%CI: 1.738-7.425, P < 0.001) which was an independent adverse predictor of PFS. Conclusion The high load of ITPKB mutation is an independent risk factor for the PFS of patients with DLBCL, and the VAF of ITPKB mutation has a prognostic predictive value for patients with DLBCL.
ABSTRACT
To investigate the clinical features and prognostic significance in myelodysplastic syndrome (MDS) patients with DTA (DNMT3A,TET2,ASXL1) mutations. Clinical characteristics of 140 patients diagnosed as de novo MDS at People′s Hospital of Xinjiang Uygur Autonomous Region from September 2015 to December 2019 were retrospectively analyzed. Next-generation sequencing was used to detect 34 related genes in MDS patients. DTA mutations and the correlation with progression-free survival (PFS) and overall survival (OS) in MDS patients were evaluated. Among 140 MDS patients, DTA mutations was detected in 62 (44.3%) patients. And the positive rate of DTA mutations in IPSS-R lower-risk group was 65.4%, significantly higher than that of higher-risk group (31.8%)( P=0.000). Compared with the non-mutated group, patients with DTA mutations had a lower rate of conversion to leukemia (9.7% vs . 29.5%, P=0.004).Survival analysis showed that PFS in patients with DTA mutations was comparable as that in MDS patients without DTA mutations ( P=0.787), but the median OS was significantly shorter (16 months vs . 20 months, P=0.022).According to IPSS-R classification, the median OS in patients with and without DTA mutation was only statistically significant in the higher-risk group (15 months vs. 18 months, P=0.034).Among 62 patients with DTA mutations, 60 (96.8%) had additional gene mutations. DTA mutations were not independent prognostic factors when mutation frequency is greater than 10% were considered in Cox regression model ( P>0.05). DTA mutations often developed in the early stage of MDS, therefore they were more common in IPSS-R lower-risk subgroup which was correlated to the low rate of conversion to leukemia. In conclusion, DTA mutations are not associated with disease progression, but predict unfavorable survival when other add-on genes are mutated.
ABSTRACT
Objective To compare intravascular ultrasound (IVUS) and coronary angiography in measuring the lumen diameter and coronary arteries stenosis rate, to investigate the impact of IVUS in the choice of surgical indications, surgical procedure guidance and effects of operation.Methods The patients who underwent percutaneous coronary intervention(PCI) therapy from may 2013 to may 2014 were divided into IVUS-guided intervention therapy group (n=89) and coronary angiographyguided group (n=90).Their baseline parameters, lesion features, MACE and restenosis during follow-up were analyzed.Results Baseline clinical and angiographic characterisitcs were well matched and show no significant differences between the two groups.Compared to angiography-guided group, the minimum lumen diameter (MLD) of IVUS-guided group were higher, diameter stenosis (DS) and lesion length (LL) were lower in IVUS-guided intervention therapy group.The detection rate of calcified and eccentric lesion were significantly higher in IVUS-guided group.There were 204 (93.6 ％) and 195 (87.8％) high-pressure balloons used in post-inflation in two groups, respectively.The MLD and plaque burden of IVUS-guided group were obviously improved after stent implantation.Conclusions IVUS-guided intervention therapy in PCI is safe and effective, may be helpful for the judgment of lesion, evaluating stent implantation and guiding high-pressure balloon post-inflation.IVUS-guided intervention could get the bigger immediate lumen diameter and lower plaque burden than coronary angiography without serious short-term or long-term complications.