Objective To explore the pathogenesis and prognostic factors of liposarcoma in the head and neck region, and simultaneously analyze the efficacy of different treatment regimens. Methods A retrospective analysis was performed on all patients with primary untreated head and neck liposarcoma who were diagnosed and underwent surgical treatment at our hospital from January 2008 to January 2024. All patients were monitored during follow-up, and their prognoses were analyzed using SPSS software. Results A total of 30 patients were included in the study. Liposarcoma accounted for up to 60% of the cases in the orbit, while the remaining liposarcomas were primarily located in various interspaces of the neck. Dedifferentiated liposarcoma was the most common type, comprising 33%, while myxoid pleomorphic liposarcoma was the rarest at 4%. The tumor pathological type (P<0.001) and Ki67 (P=0.014) significantly affected the tumor control rate. However, an analysis of disease-specific survival rates revealed no significant differences across various factors (all P>0.05). Conclusion The prognosis of head and neck liposarcoma is better compared to that of liposarcomas in other parts of the body. However, myxoid pleomorphic liposarcoma, pleomorphic fat sarcoma, and high Ki67 levels are indicators of poor prognosis. Additionally, postoperative adjuvant radiotherapy does not significantly enhance disease-specific survival rates.

OBJECTIVE To analyse the prognosis and laryngeal function retention of patients undergoing minimally invasive and open surgery after induction chemotherapy.METHODS The clinical data of 54 hypopharyngeal carcinoma patients who received induction chemotherapy and underwent laryngeal preservation surgery in Beijing Tongren Hospital from 2016 to 2022 were retrospectively analyzed.The laryngeal function recovery and survival rate were compared between the two groups.RESULTS Twenty-eight patients underwent transoral minimally invasive surgery and 26 patients underwent partial laryngectomy and/or partial laryngectomy via external cervical approach.The 3-year survival rates of the two groups were 63%and 59%,respectively,and the difference was not statistically significant(P＞0.05).The differences were statistically significant(P＜0.05).CONCLUSION In patients with downstaged hypopharyngeal carcinoma after induction chemotherapy,the survival rate of transoral minimally invasive surgery is similar to that of open surgery,and the laryngeal function recovery of transoral minimally invasive surgery is better.

Objective:To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1: c.555delT (P.leu186CysFS Ter19) and M3: c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes. Conclusion:Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.

The data of 10 patients with pituitary metastases were retrospectively analyzed, including tumor origin, clinical features, imaging characteristics, diagnosis and differential diagnosis, treatment and prognosis. The results showed that the average age of 10 patients at the time of consultation was 62.0 years. Nine metastases were originated from lung cancer and one from breast cancer. All patients started with central diabetes insipidus, and some of them accompanied with hypopituitarism, as well as occupancy manifestations such as headache, blurred vision, etc. MRI showed abnormalities in the pituitary stalk and posterior pituitary, four of which showed characteristic " dumbbell-shaped" changes. Three patients with epidermal growth factor receptor(EGFR)-mutated lung adenocarcinoma revealed improvement in both primary lesion and pituitary metastases after targeted therapy.

Pheochromocytoma/paraganglioma(PPGL) was a kind of neuroendocrine tumor that derived from chromaffin tissue, which seems to be an important etiology of secondary hypertension. With the development of molecular detection technology, at least 17 kinds of pathogenic genes of PPGL has been discovered, which is related to 35%-40% PPGL, and about 40% malignant PPGL is associated with SDHB gene mutation. In this study, we reported a case with a novel splicing mutation of SDHB gene induced paraganglioma.

Objective: To compare the abdominal fat distribution in patients with primary aldosteronism (PA) and essential hypertension (EH), and to analyze the correlation between abdominal fat area and indexes such as glycolipid metabolism and insulin resistance. Methods: Forty-five PA and 55 EH patients were collected from inpatients in the First Affiliated Hospital of Zhengzhou University for suspicious secondary hypertension, from September 2016 to February 2019. All patients received quantitative computed tomography to measure the total abdominal fat area (TFA), visceral fat area (VFA), and subcutaneous fat area (SFA) when receiving adrenal CT detection. Visceral obesity was defined as VFA≥130 cm². The percentage of visceral fat area in total abdominal fat area (V%=VFA/TFA), the ratio of visceral fat area to subcutaneous fat area (V/S=VFA/SFA) and the percentage of visceral obesity were calculated. Results: TFA and VFA in EH group were higher than those in PA group matched by age, gender, and body mass index (BMI, all P<0.01), and there were no statistically significant differences in SFA, V%, V/S, and the percentage of visceral obesity between the two groups. In PA group, TFA and VFA were positively correlated with homeostasis model assessment of insulin resistance index (P<0.01), TFA was positively correlated with triglycerides (TG) and low density lipoprotein-cholesterol, while SFA was positively correlated with TG (all P<0.05). Conclusion Compared with EH patients matched by age, gender, and BMI, TFA and VFA in PA patients are lower. Abdominal fat area is associated with insulin resistance and blood lipids in PA patients, while VFA exerts a greater effect on insulin resistance than that of TFA and SFA.

Objective: To analyze the clinical characteristics of two groups(vascular classification declines or not in narrow band imaging (NBI) of patients with advanced hypopharyngeal carcinoma after induced chemotherapy, to follow-up and compare the survival differences between the two groups, and to explore the effect of vascular changes on clinical prognosis after induced chemotherapy in patients with advanced hypopharyngeal carcinoma. Methods: Clinical data of 56 patients with advanced hypopharyngeal carcinoma from August 2014 to September 2016 in Beijing Tongren Hospital, Capital Medical University were collected. The patients were divided into two groups according to NBI vascular classification declines or not after induced chemotherapy. The survival of patients and the impact of different factors on the prognosis were retrospectively analyzed. SPSS 24.0 statistical software was used for analysis. Frequency data were compared between the two groups using χ² test. Kaplan-Meier method and Cox regression analysis were employed for survival analysis and Log-Rank test was used for inter-group comparison, P<0.05 was statistically significant. Results: There was significant difference in overall survival rate(OS) between two groups of patients with advanced hypopharyngeal carcinoma after induced chemotherapy (P<0.05). Multivariate analysis showed that NBI vascular classification changes after induced chemotherapy was the impact factor for prognosis of advanced hypopharyngeal carcinoma after induced chemotherapy. Conclusion In addition to recurrence and metastasis, NBI vascular classification changes is the important impact factor for prognosis of advanced hypopharyngeal carcinoma after induced chemotherapy. Patients with NBI vascular classification declines have significant survival benefit. The patients with advanced hypopharyngeal carcinoma should be checked with NBI examination before and after induced chemotherapy. NBI should be included in the routine screening indicators for prognosis of advanced hypopharyngeal carcinoma.

Objective: To study the clinical characteristics of mucosal melanoma in the head and neck, including the risk factors affecting distant metastasis, recurrence and survival rate, and to provide the basis for the individualized treatment of mucosal melanoma in the head and neck. Methods: The clinical data of 117 cases of mucosal melanoma in the head and neck treated from January 2004 to June 2016 in Beijing Tongren Hospital were analyzed retrospectively, and the risk factors affecting the prognosis, distant metastasis and local recurrence were analyzed.Kaplan-Meier analysis was used for survival analysis, and Log-Rank test was used for comparison between groups. Results: The follow-up time was 5-139 months, with a median of 32 months, and the median survival time was 34 months.The 3 and 5 year cumulative survival rates were 47.0% and 25.0%, respectively.Local recurrence occurred in 27 patients (23.1%), and distant metastasis in 37 cases (31.6%). After the operation, 50 patients received radiotherapy.Multiple factor Cox regression analysis showed that distant metastasis, AJCC staging, and two operations were risk factors affecting survival (P<0.05), and immunologic/targeted therapy was a protective factor affecting survival prognosis(P=0.008). Postoperative radiotherapy and distant metastasis were important factors affecting recurrence (P<0.05). AJCC staging, pigmentation, and postoperative recurrence were risk factors for distant metastasis (P<0.05). Conclusion The 3 and 5 year survival rates of primary mucosal melanoma in head and neck are low, and the incidence of local recurrence and distant metastasis are high. Surgery is the first choice and the integrity of the initial operation has an important impact on the prognosis of the patients. Postoperative adjuvant radiotherapy is recommended to improve the local control rate, and immunotherapy and targeted therapy should be applied in time to improve survival.

Objective To study the SRSF2 mutations in acute myeloid leukemia (AML) patients by using high-resolution melting analysis (HRMA). Methods PCR-HRMA analysis was performed to screen SRSF2 mutations in 140 cases with AML, and the direct DNA sequencing was used to confirm the HRMA results. Results Five percent (7/140) of AML patients were found with heterozygous SRSF2 mutations, including one case of P95R mutation, two case of P95L mutation, and four cases of P95H mutation, the above mutations were confirmed by direct DNA sequencing. The maximal sensitivity of HRMA in detecting SRSF2 mutation was close to 10%. There were no difference in gender, age and blood parameters among cases with or without SRSF2 mutations (P > 0.05). The overall survival (OS) of patients with SRSF2 mutations was inferior to those without SRSF2 mutations in AML patients (P=0.016). Conclusions HRMA analysis was a convenient, rapid, specific, high-throughput technique for scanning of SRSF2 gene mutations in AML patients. SRSF2 mutation may predict the adverse prognosis in AML patients.

Objective To analyse effect of glycyrrhizin on serum levels of platelet derived growth factor ( PDGF ) , interleukin 17 ( IL-17 ) , monocyte chemotactic protein 1 (MCP-1) and serum response factor (SRF) in patients with glioma.Methods 48 patients who were diagnosed with glioma in our hospital were collected.All patients were randomly divided into experimental group and control group,24 cases in each group.All patients were treated with surgery,control group was treated with temozolomid capsule(150 mg/m2 ) orally, one times per day, 28 days for a treatment period of 5 days continuous administration.On the basis of control group, experimental group was treated with compound ammonium glycyrrhetate injection 40 mL, dissolved in 250 mL 5% glucose solution intravenously,one times per day,four weeks was a period of treatment.After two groups were treated two period of treatment,the serum levels of PDGF, IL-17,MCP-1and SRF were detected in all patients.Results After treatment, compared with control group, the serum PDGF level was lower than that of experimental group (P<0.05);the serum IL-17 level was lower than that of experimental group (P<0.05);the serum MCP-1 level was higher than that of experimental group ( P <0.05 );the serum SRF level was lower than that of experimental group ( P <0.05).Conclusion Glycyrrhizin could significantly reduce the serum PDGF, IL-17 and SRF levels,increase MCP-1 levels, have guidance significance for clinic.