Objective To examined gene mutations in thymic carcinoma (TC) patients and to explore prognostic correlates and potential targets for therapy. MethodsWe retrospectively included TC patients in Sichuan Cancer Hospital between January 2015 and Febuary 2021.Whole-exome sequencing was performed on tumor tissues from TC patients and their control peripheral blood samples, and the raw data were subjected to bioinformatics analysis and statistical analysis. Results We finally included 24 TC patients with 16 males and 8 females at a median age of 55 (42-74) years. The highest frequency of single nucleotide mutations in this cohort were in the TTN gene (42%), HSPG2 (29%), and OBSCN (29%). Higher frequency of copy number variations occurred in ZNF276 gene (54%, loss), BEND3 (50%, loss), DHODH (50%, loss), and VAC14 (50%, loss). Microsatellite instability (MSI) phenotype was found in 25% of the patients, and the mean tumor mutation burden (TMB) was 9.86. Conclusion This study is the first comprehensive analysis of the mutation profile of thymic carcinoma in China to date. The mutation frequencies of TTN, OBSCN, and ZNF276 genes were high. The biomarker analysis suggests that patients may benefit from immunotherapy and have a long effective survival.
Objective To evaluate the clinical application of Hb-A2 detection of thalassemia including-alpha-thalassemia and beta-thalassemia. Methods There were 70 Southeast Asia type alpha-thalassemia heterozygosity and 43 normal gene type resulted from Gap-PCR, and 33 beta-thalassemia heterozygosity and 36 normal gene type diagnosed by reverse dot blot (RDB). Cutoff value of Hb-A2 in finding of alpha-thalassemia and beta-thalassemia was present.The sensitivity, specificity, positive and negative likelihood ratio, and receiver operator characteristic curve (ROC) were used to evaluate the significance of Hb-A2 level in screening thalassemia in adults. Results The borderline values between normal and pathological range of Hb-A2 were ≤2.6% in alpha-thalassemia and ≥3.8% available in beta-thalassemia. Sensitivity and specificity were 59% and 54% in alpha-thalassemia, 76% and 83% in beta-thalassemia, respectively. ROC showed that the area covered beneath the curve of beta-thalassemia was more than that of alpha-thalassemia. Conclusions The cutoff between normal and pathological range of Hb-A2 is ≤2.3% in alpha-thalassemia and ≥3.8% in beta-thalassemia. Hb-A2 detection has higher sensitive and specific in beta-thalassemia diagnosis, but lower in alpha-thalassemia diagnosis.