[Gene Mutation and Clinical Characteristics of Patients with Acute Leukemia].

OBJECTIVE: To investigate the characteristics of gene mutation, clinical characteristics and significance in acute leukemia (AL) patients. METHODS: The clinical data of 102 AL patients in Hebei General Hospital from September 2016 to September 2020 were collected and analyzed retrospectively, including the characteristics of gene mutation, age, peripheral blood cells, bone marrow blasts, leukemia subtypes and myeloperoxidase (MPO). RESULTS: The total gene mutation rate was 87.25% (89/102) in all 102 patients. A total of 275 gene mutations were detected, with an average of 2.70 gene mutations per patient. The most frequent mutations of 102 patients were as follows: CEBPA (6.91%), NPM1 and ASXL1(6.18%), TET2 (5.82%), DNMT3A (5.45%), IDH2 and FLT3-ITD (5.09%). Gene mutations often occurred simultaneously. CEBPA mutation occurred in 10 cases of M2 subtype, while TET2 mutation occurred in 9 cases of M2 subtype. Among the most common gene mutations in MPO low expression group, mutation rates of NPM1, DNMT3A, IDH2, SF related gene mutation and RUNX1 were significantly different than those in MPO high expression group (all P<0.05). Univariate analysis showed that age, NPM1, DNMT3A and FLT3-ITD had significant effects on leukocyte level. Logistic regression analysis showed that patients with positive NPM1 mutations may had higher leukocyte levels (p=0.038), and those with positive DNMT3A mutations may had higher platelet levels (p=0.042). CONCLUSION: The incidence of gene mutation in patients with AL is high, and it often occurs simultaneously. CEBPA and TET2 gene mutations are more common in M2 subtype. In patients with MPO low expression, the most common gene mutations are NPM1, DNMT3A and IDH2. AL patients with NPM1 gene mutation had higher white blood cell levels, while with DNMT3A gene mutation had higher platelet levels.

Clinical Analysis of Primary Tracheobronchial Tumors in Children and Evaluation of the Predicting Models for Mucoepidermoid Carcinoma.

OBJECTIVE: To determine the clinical characteristics and prognosis of primary tracheobronchial tumors (PTTs) in children, and to explore the most common tumor identification methods. METHODS: The medical records of children with PTTs who were hospitalized at the Children's Hospital of Chongqing Medical University from January 1995 to January 2020 were reviewed retrospectively. The clinical features, imaging, treatments, and outcomes of these patients were statistically analyzed. Machine learning techniques such as Gaussian naïve Bayes, support vector machine (SVM) and decision tree models were used to identify mucoepidermoid carcinoma (ME). RESULTS: A total of 16 children were hospitalized with PTTs during the study period. This included 5 (31.3%) children with ME, 3 (18.8%) children with inflammatory myofibroblastic tumors (IMT), 2 children (12.5%) with sarcomas, 2 (12.5%) children with papillomatosis and 1 child (6.3%) each with carcinoid carcinoma, adenoid cystic carcinoma (ACC), hemangioma, and schwannoma, respectively. ME was the most common tumor type and amongst the 3 ME recognition methods, the SVM model showed the best performance. The main clinical symptoms of PPTs were cough (81.3%), breathlessness (50%), wheezing (43.8%), progressive dyspnea (37.5%), hemoptysis (37.5%), and fever (25%). Of the 16 patients, 7 were treated with surgery, 8 underwent bronchoscopic tumor resection, and 1 child died. Of the 11 other children, 3 experienced recurrence, and the last 8 remained disease-free. No deaths were observed during the follow-up period. CONCLUSION: PTT are very rare in children and the highest percentage of cases is due to ME. The SVM model was highly accurate in identifying ME. Chest CT and bronchoscopy can effectively diagnose PTTs. Surgery and bronchoscopic intervention can both achieve good clinical results and the prognosis of the 11 children that were followed up was good.