1.Epidemiological characteristics of human brucellosis in Jiande City from 2005 to 2024
YANG Xianqing ; FANG Lihong ; FANG Lian ; ZHONG Rongwan ; WANG Fei ; LIANG Jie ; HUANG Yanyin ; XU Xiaoping
Journal of Preventive Medicine 2025;37(3):304-307,311
Objective:
To investigate the epidemiological characteristics of human brucellosis in Jiande City, Zhejiang Province from 2005 to 2024, so as to provide the evidence for strengthening the prevention and control of brucellosis.
Methods:
Data on brucellosis cases and surveillance in Jiande City from 2005 to 2024 were collected through the Chinese Disease Prevention and Control Information System, the annual brucellosis surveillance reports from the Jiande Center for Disease Control and Prevention, and the annual summaries of brucellosis prevention and control efforts. The epidemiological characteristics of human brucellosis were analyzed using a descriptive epidemiological method.
Results:
A total of 1 125 individuals were monitored in Jiande City from 2005 to 2024, with 18 seropositive cases identified and the seropositivity rate of 1.60%. The average annual seropositivity rate from 2015 to 2024 was 3.35%, which was significantly higher than that of 0.57% from 2005 to 2014 (P<0.05). There were 10 confirmed brucellosis cases and 8 asymptomatic infections, with no reported deaths. The peak incidence occurred between March and August. Among the 16 towns (streets) in Jiande City, 8 reported brucellosis cases. Of the brucellosis cases, 14 were male and 4 were female, with a male-to-female ratio of 3.5∶1. The majority of cases (13 cases) were aged between 40 and 60 years. Occupational exposure was identified in 16 cases, all of whom were infected through direct hand contact with the excreta, secretions, or animal products of infected sheep or cattle. The primary source of infection was sheep, followed by cattle. Five strains of Brucella were isolated and cultured, all identified as Brucella melitensis biovar 3.
Conclusions
The brucellosis epidemic in Jiande City remained at a sporadic and low prevalence level from 2005 to 2024, with an increasing trend observed from 2015 to 2024. Male occupational groups aged 40 to 60 years were the key population for brucellosis prevention and control, and sheep were the primary source of infection.
2.Analysis of the efficacy of lamb′s tripe extract and vitamin B 12 capsule on chronic atrophic gastritis at different sites
Dongdong XIA ; Huahong XIE ; Bo JIANG ; Hong XU ; Zhanguo NIE ; Chengwei TANG ; Qiang GUO ; Xiaoping ZOU ; Shuisheng SHI ; Tao SUN ; Shourong SHEN ; Guoqing LI ; Xiaozhong GUO ; Xiaoyan ZHAO ; Jiaming QIAN ; Weixing CHEN ; Guiying ZHANG ; Aijun LIAO ; Jingyuan FANG ; Daiming FAN ; Kaichun WU
Chinese Journal of Digestion 2025;45(3):162-168
Objective:To evaluate the efficacy of lamb′s tripe extract and vitamin B 12 capsule (LTEVB 12C) on chronic atrophic gastritis (CAG) at different locations (antrum lesser curvature, antrum greater curvature, gastric angle, corpus lesser curvature, and corpus greater curvature). Methods:From August 2011 to January 2013, 715 patients with CAG in a multicenter, randomized, double-blind, placebo-controlled trial were enrolled from 16 tertiary first-class hospitals across the country, including the First Affiliated Hospital of Air Force Medical University, Nanfang Hospital of Southern Medical University, the First Hospital of Jilin University, West China Hospital of Sichuan University, etc., there were 476 cases in the LTEVB 12C group and 239 cases in the placebo group. The patients of the LTEVB 12C group received LTEVB 12C, and the patients of placebo group received LTEVB 12C mimetic, all the medications were taken 3 capsules each time and 3 times a day after meals, and the treatment course of 2 groups were both 6 months. The efficacy evaluation criteria included the effective rate (a decrease of ≥1 in histopathological score compared with baseline after 6 months of treatment) and the reversal rate (a decrease of ≥ 2 in histopathological score compared with baseline after 6 months of treatment in the patients with moderate to severe CAG). The impact of lesion sites on the therapeutic effects of LTEVB 12C was analyzed by logistic regression analysis. The two-way unordered Cochran-Mantel-Haenszel chi-square test considering the center effect and Pearson chi-square test were used for statistical analysis. Results:The effective rates of chronic inflammation at the antrum greater curvature and corpus greater curvature (23.3%, 110/473 vs. 13.0%, 31/239; 20.3%, 96/472 vs. 12.6%, 30/239), the effective rates of atrophy at the antrum lesser curvature, antrum greater curvature, gastric angle, corpus lesser curvature, and the corpus greater curvature (27.0%, 118/437 vs. 15.7%, 34/216; 29.2%, 126/432 vs. 18.5%, 38/205; 27.8%, 121/435 vs. 16.7%, 36/216; 32.5%, 127/391 vs. 19.8%, 37/187; 33.0%, 119/361 vs. 21.8%, 39/179), and the effective rates of intestinal metaplasia at the antrum lesser curvature, antrum greater curvature, gastric angle, and the corpus lesser curvature (45.0%, 112/249 vs. 29.8%, 31/104; 53.8%, 86/160 vs. 33.9%, 21/62; 45.8%, 103/225 vs. 24.0%, 25/104; 51.9%, 83/160 vs. 28.3%, 17/60) of the LTEVB 12C group were all higher than those of the placebo group, and the differences were statistically significant ( χ2=10.76, 6.39, 9.69, 7.91, 11.05, 9.62, 8.57, 5.20, 7.11, 12.45, and 6.73; all P<0.05). The reversal rates of chronic inflammation at the corpus lesser curvature and corpus greater curvature (5.2%, 12/231 vs. 0, 0/123; 4.7%, 8/170 vs. 0, 0/88), the reversal rates of atrophy at the antrum lesser curvature, antrum greater curvature, corpus lesser curvature, and the corpus greater curvature (6.8%, 22/323 vs. 1.3%, 2/151; 9.2%, 29/315 vs. 1.4%, 2/144; 14.2%, 38/267 vs. 2.5%, 3/121; 20.8%, 35/168 vs. 5.8%, 4/69), and the reversal rates of intestinal metaplasia at the antrum lesser curvature, antrum greater curvature, gastric angle, and the corpus lesser curvature (29.8%, 39/131 vs. 9.1%, 4/44; 41.0%, 32/78 vs. 12.5%, 3/24; 33.3%, 44/132 vs. 4.8%, 3/63; 50.0%, 37/74 vs. 8.7%, 2/23) of the LTEVB 12C group were all higher than those of the placebo group, and the differences were statistically significant ( χ2=6.58, 5.12, 5.60, 8.61, 11.43, 6.59, 7.30, 4.95, 15.92, 7.62; all P<0.05). There were no statistically significant differences in the effective rates and reversal rates of active inflammation at different locations between the LTEVB 12C group and the placebo group (all P>0.05). The results of logistic regression analysis (taking the antrum lesser curvature as the reference) further confirmed that the reversal rates of chronic inflammation ( OR=0.22, 95% confidence interval (95% CI): 0.07 to 0.67; OR=0.24, 95% CI: 0.07 to 0.80), atrophy ( OR=0.28, 95% CI: 0.16 to 0.49; OR=0.28, 95% CI: 0.16 to 0.49), and intestinal metaplasia ( OR=0.42, 95% CI: 0.24 to 0.77; OR=0.20, 95% CI: 0.08 to 0.52) at the corpus lesser curvature and corpus greater curvature were all higher than those at the antrum lesser curvature, and the differences were statistically significant (all P<0.05). There were no statistically siginificant differences in the reversal rates of the aforementioned pathological features between the antrum greater curvature, gastric angle, and the antrum lesser curvature (all P>0.05). Conclusion:LTEVB 12C can achieve good efficacy in the treatment of CAG, and the chronic inflammation, atrophy, and intestinal metaplasia at multiple locations are improved, especially at the corpus lesser curvature and the corpus greater curvature.
3.Analysis of influencing factors and TCM syndrome classification of skin pruritus in patients with maintenance hemodialysis
Yuanying XIA ; Xiaoping FAN ; Xiaojuan FANG ; Liyan ZHANG ; Yi ZHANG
China Modern Doctor 2025;63(17):20-24
Objective To investigate the influencing factors and Traditional Chinese Medical(TCM)syndrome classification of skin pruritus in patients with maintenance hemodialysis(MHD).Methods A total of 174 hemodialysis patients who underwent regular dialysis in Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital from July to September 2024 were selected as study subjects.According to the presence or absence of uremic pruritus(UP),they were divided into pruritus group(n=66)and non-pruritus group(n=108).Both groups of patients were classified into TCM syndromes,and the factors affecting skin pruritus in MHD patients were analyzed by Logistic regression analysis and an evaluation model was established.The evaluation efficiency of the model was evaluated by receiver operating characteristic curve.The relationship between TCM syndromes and pruritus degree was analyzed.Results Both groups of patients were mainly characterized by spleen and kidney Qi deficiency,and the difference was statistically significant(P<0.05).Logistic regression analysis showed that β2 microglobulin(β2-MG),blood phosphorus,hyper-sensitive C-reactive protein and parathyroid hormone(PTH)were all risk factors for skin pruritus in MHD patients.The area under the curve of skin pruritus in MHD patients was 0.962(95%CI:0.930-0.995).The underlying syndrome of UP patients was mainly spleen and kidney Qi deficiency,and marked syndrome was mainly blood deficiency and wind-dryness.Conclusion β2-MG,blood phosphorus,hyper-sensitive C-reactive protein and PTH are closely related to the occurrence of skin pruritus in MHD patients.The TCM syndrome of UP patients is mainly characterized by spleen and kidney Qi deficiency,and syndrome of blood deficiency and wind-dryness is mainly characterized by UP patients,and there is a certain correlation between TCM syndrome classification and the degree of skin pruritus.
4.Correlations of PTTG1 and UBE2C with prognosis of liver cancer based on bioinformatics analysis
Lichao CAO ; Ying BA ; Fang CHEN ; Long XU ; Chendi YU ; Xiaoping LU ; Hezi ZHANG
Chinese Journal of Clinical Laboratory Science 2025;43(1):50-58
Objective To explore the T/NK cell-related differentially expressed genes(T/NK-DEGs)related to the prognosis of liver cancer based on the single-cell RNA-seq data,gene expression data and clinical information in the GEO and TCGA databases,and construct the prognostic model of liver cancer.Methods The single-cell RNA-seq data and gene expression matrices of liver cancer were obtained from the GEO database.The TCGA-LIHC cohorts,including mRNA expression data,clinical information,survival infor-mation,and somatic mutation data,were obtained from the TCGA database.Based on the two databases,the prognostic model of liver cancer patients was constructed by the bioinformatics method,and the performance of the model was predicted.Results Two T/NK-DEGs,PTTG1 and UBE2C,were identified to be associated with the prognosis of liver cancer and a prognostic model of liver cancer was constructed based on them.According to the risk score,the patients were divided into the high-risk score group and low-risk score group,in which the patients with high-risk score had a worse prognosis than those with low-risk score.The areas under the receiv-er operating characteristics(ROC)curve(AUCROC)of the prognostic model at 1-year,3-year and 5-year time points were 0.685,0.647 and 0.594,respectively.The higher risk score was correlated with the advanced pathological stage(Ⅰstage,Ⅱstage,andⅢstage)and T-stage(T1,T2,and T3)(P<0.05).The prognostic model was able to predict the proportion of tumor infiltrating immune cells,and the sensitivity of immunotherapy and chemotherapy drugs in patients with liver cancer.Conclusion The constructed prog-nostic model in this study has an important role in the prediction of individualized survival and clinical treatment response of patients with liver cancer.
5.Evaluation of 18F-FDG PET/CT SUVmax and T/MB ratio in assessing aggressiveness and predicting therapeutic efficacy in non-Hodgkin's lymphoma
Chuanqin ZHANG ; Qi HUANG ; Peiqing YANG ; Zelong FENG ; Fang LI ; Xiaoping LI ; Pan WANG
Chinese Journal of Immunology 2025;41(11):2645-2650
Objective:To investigate factors influencing 18F-FDG PET/CT SUVmax,T/MB ratio and Ki-67 expression in non-Hodgkin's lymphoma(NHL),to analyze their correlations with lymphoma aggressiveness and their potential advantages in predicting therapeutic efficacy.Methods:A retrospective analysis was conducted to investigate correlations between tumor SUVmax,T/MB ratio,and Ki-67 expression with NHL aggressiveness and clinical characteristics in 99 patients;whether SUVmax,T/MB ratio and Ki-67 served as independent prognostic factors influencing therapeutic efficacy was examined,and potential utility of ΔSUVmax and ΔT/MB as biomarkers for treatment response assessment were evaluated.Results:Aggressive NHL demonstrated significantly higher SUVmax,T/MB ratio and Ki-67 level compared to indolent NHL and aggressive/indolent NHL(P<0.05).A pretreatment SUVmax≥9.05,T/MB≥5.115 or Ki-67≥55%could predict clinical remission in NHL patients post-treatment,while post-treatment reductions of ΔSUVmax≥22.65%or ΔT/MB≥34.85%were associated with achieved clinical remission.Conclusion:SUVmax,T/MB ratio and Ki-67 are closely associated with aggressiveness of NHL,which can be predicted whether NHL will be relieved after treatment.ΔSUVmax and ΔT/MB can assess whether NHL has been relieved after treatment.
6.Analysis of influencing factors and TCM syndrome classification of skin pruritus in patients with maintenance hemodialysis
Yuanying XIA ; Xiaoping FAN ; Xiaojuan FANG ; Liyan ZHANG ; Yi ZHANG
China Modern Doctor 2025;63(17):20-24
Objective To investigate the influencing factors and Traditional Chinese Medical(TCM)syndrome classification of skin pruritus in patients with maintenance hemodialysis(MHD).Methods A total of 174 hemodialysis patients who underwent regular dialysis in Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital from July to September 2024 were selected as study subjects.According to the presence or absence of uremic pruritus(UP),they were divided into pruritus group(n=66)and non-pruritus group(n=108).Both groups of patients were classified into TCM syndromes,and the factors affecting skin pruritus in MHD patients were analyzed by Logistic regression analysis and an evaluation model was established.The evaluation efficiency of the model was evaluated by receiver operating characteristic curve.The relationship between TCM syndromes and pruritus degree was analyzed.Results Both groups of patients were mainly characterized by spleen and kidney Qi deficiency,and the difference was statistically significant(P<0.05).Logistic regression analysis showed that β2 microglobulin(β2-MG),blood phosphorus,hyper-sensitive C-reactive protein and parathyroid hormone(PTH)were all risk factors for skin pruritus in MHD patients.The area under the curve of skin pruritus in MHD patients was 0.962(95%CI:0.930-0.995).The underlying syndrome of UP patients was mainly spleen and kidney Qi deficiency,and marked syndrome was mainly blood deficiency and wind-dryness.Conclusion β2-MG,blood phosphorus,hyper-sensitive C-reactive protein and PTH are closely related to the occurrence of skin pruritus in MHD patients.The TCM syndrome of UP patients is mainly characterized by spleen and kidney Qi deficiency,and syndrome of blood deficiency and wind-dryness is mainly characterized by UP patients,and there is a certain correlation between TCM syndrome classification and the degree of skin pruritus.
7.Correlations of PTTG1 and UBE2C with prognosis of liver cancer based on bioinformatics analysis
Lichao CAO ; Ying BA ; Fang CHEN ; Long XU ; Chendi YU ; Xiaoping LU ; Hezi ZHANG
Chinese Journal of Clinical Laboratory Science 2025;43(1):50-58
Objective To explore the T/NK cell-related differentially expressed genes(T/NK-DEGs)related to the prognosis of liver cancer based on the single-cell RNA-seq data,gene expression data and clinical information in the GEO and TCGA databases,and construct the prognostic model of liver cancer.Methods The single-cell RNA-seq data and gene expression matrices of liver cancer were obtained from the GEO database.The TCGA-LIHC cohorts,including mRNA expression data,clinical information,survival infor-mation,and somatic mutation data,were obtained from the TCGA database.Based on the two databases,the prognostic model of liver cancer patients was constructed by the bioinformatics method,and the performance of the model was predicted.Results Two T/NK-DEGs,PTTG1 and UBE2C,were identified to be associated with the prognosis of liver cancer and a prognostic model of liver cancer was constructed based on them.According to the risk score,the patients were divided into the high-risk score group and low-risk score group,in which the patients with high-risk score had a worse prognosis than those with low-risk score.The areas under the receiv-er operating characteristics(ROC)curve(AUCROC)of the prognostic model at 1-year,3-year and 5-year time points were 0.685,0.647 and 0.594,respectively.The higher risk score was correlated with the advanced pathological stage(Ⅰstage,Ⅱstage,andⅢstage)and T-stage(T1,T2,and T3)(P<0.05).The prognostic model was able to predict the proportion of tumor infiltrating immune cells,and the sensitivity of immunotherapy and chemotherapy drugs in patients with liver cancer.Conclusion The constructed prog-nostic model in this study has an important role in the prediction of individualized survival and clinical treatment response of patients with liver cancer.
8.Evaluation of 18F-FDG PET/CT SUVmax and T/MB ratio in assessing aggressiveness and predicting therapeutic efficacy in non-Hodgkin's lymphoma
Chuanqin ZHANG ; Qi HUANG ; Peiqing YANG ; Zelong FENG ; Fang LI ; Xiaoping LI ; Pan WANG
Chinese Journal of Immunology 2025;41(11):2645-2650
Objective:To investigate factors influencing 18F-FDG PET/CT SUVmax,T/MB ratio and Ki-67 expression in non-Hodgkin's lymphoma(NHL),to analyze their correlations with lymphoma aggressiveness and their potential advantages in predicting therapeutic efficacy.Methods:A retrospective analysis was conducted to investigate correlations between tumor SUVmax,T/MB ratio,and Ki-67 expression with NHL aggressiveness and clinical characteristics in 99 patients;whether SUVmax,T/MB ratio and Ki-67 served as independent prognostic factors influencing therapeutic efficacy was examined,and potential utility of ΔSUVmax and ΔT/MB as biomarkers for treatment response assessment were evaluated.Results:Aggressive NHL demonstrated significantly higher SUVmax,T/MB ratio and Ki-67 level compared to indolent NHL and aggressive/indolent NHL(P<0.05).A pretreatment SUVmax≥9.05,T/MB≥5.115 or Ki-67≥55%could predict clinical remission in NHL patients post-treatment,while post-treatment reductions of ΔSUVmax≥22.65%or ΔT/MB≥34.85%were associated with achieved clinical remission.Conclusion:SUVmax,T/MB ratio and Ki-67 are closely associated with aggressiveness of NHL,which can be predicted whether NHL will be relieved after treatment.ΔSUVmax and ΔT/MB can assess whether NHL has been relieved after treatment.
9.Analysis of the efficacy of lamb′s tripe extract and vitamin B 12 capsule on chronic atrophic gastritis at different sites
Dongdong XIA ; Huahong XIE ; Bo JIANG ; Hong XU ; Zhanguo NIE ; Chengwei TANG ; Qiang GUO ; Xiaoping ZOU ; Shuisheng SHI ; Tao SUN ; Shourong SHEN ; Guoqing LI ; Xiaozhong GUO ; Xiaoyan ZHAO ; Jiaming QIAN ; Weixing CHEN ; Guiying ZHANG ; Aijun LIAO ; Jingyuan FANG ; Daiming FAN ; Kaichun WU
Chinese Journal of Digestion 2025;45(3):162-168
Objective:To evaluate the efficacy of lamb′s tripe extract and vitamin B 12 capsule (LTEVB 12C) on chronic atrophic gastritis (CAG) at different locations (antrum lesser curvature, antrum greater curvature, gastric angle, corpus lesser curvature, and corpus greater curvature). Methods:From August 2011 to January 2013, 715 patients with CAG in a multicenter, randomized, double-blind, placebo-controlled trial were enrolled from 16 tertiary first-class hospitals across the country, including the First Affiliated Hospital of Air Force Medical University, Nanfang Hospital of Southern Medical University, the First Hospital of Jilin University, West China Hospital of Sichuan University, etc., there were 476 cases in the LTEVB 12C group and 239 cases in the placebo group. The patients of the LTEVB 12C group received LTEVB 12C, and the patients of placebo group received LTEVB 12C mimetic, all the medications were taken 3 capsules each time and 3 times a day after meals, and the treatment course of 2 groups were both 6 months. The efficacy evaluation criteria included the effective rate (a decrease of ≥1 in histopathological score compared with baseline after 6 months of treatment) and the reversal rate (a decrease of ≥ 2 in histopathological score compared with baseline after 6 months of treatment in the patients with moderate to severe CAG). The impact of lesion sites on the therapeutic effects of LTEVB 12C was analyzed by logistic regression analysis. The two-way unordered Cochran-Mantel-Haenszel chi-square test considering the center effect and Pearson chi-square test were used for statistical analysis. Results:The effective rates of chronic inflammation at the antrum greater curvature and corpus greater curvature (23.3%, 110/473 vs. 13.0%, 31/239; 20.3%, 96/472 vs. 12.6%, 30/239), the effective rates of atrophy at the antrum lesser curvature, antrum greater curvature, gastric angle, corpus lesser curvature, and the corpus greater curvature (27.0%, 118/437 vs. 15.7%, 34/216; 29.2%, 126/432 vs. 18.5%, 38/205; 27.8%, 121/435 vs. 16.7%, 36/216; 32.5%, 127/391 vs. 19.8%, 37/187; 33.0%, 119/361 vs. 21.8%, 39/179), and the effective rates of intestinal metaplasia at the antrum lesser curvature, antrum greater curvature, gastric angle, and the corpus lesser curvature (45.0%, 112/249 vs. 29.8%, 31/104; 53.8%, 86/160 vs. 33.9%, 21/62; 45.8%, 103/225 vs. 24.0%, 25/104; 51.9%, 83/160 vs. 28.3%, 17/60) of the LTEVB 12C group were all higher than those of the placebo group, and the differences were statistically significant ( χ2=10.76, 6.39, 9.69, 7.91, 11.05, 9.62, 8.57, 5.20, 7.11, 12.45, and 6.73; all P<0.05). The reversal rates of chronic inflammation at the corpus lesser curvature and corpus greater curvature (5.2%, 12/231 vs. 0, 0/123; 4.7%, 8/170 vs. 0, 0/88), the reversal rates of atrophy at the antrum lesser curvature, antrum greater curvature, corpus lesser curvature, and the corpus greater curvature (6.8%, 22/323 vs. 1.3%, 2/151; 9.2%, 29/315 vs. 1.4%, 2/144; 14.2%, 38/267 vs. 2.5%, 3/121; 20.8%, 35/168 vs. 5.8%, 4/69), and the reversal rates of intestinal metaplasia at the antrum lesser curvature, antrum greater curvature, gastric angle, and the corpus lesser curvature (29.8%, 39/131 vs. 9.1%, 4/44; 41.0%, 32/78 vs. 12.5%, 3/24; 33.3%, 44/132 vs. 4.8%, 3/63; 50.0%, 37/74 vs. 8.7%, 2/23) of the LTEVB 12C group were all higher than those of the placebo group, and the differences were statistically significant ( χ2=6.58, 5.12, 5.60, 8.61, 11.43, 6.59, 7.30, 4.95, 15.92, 7.62; all P<0.05). There were no statistically significant differences in the effective rates and reversal rates of active inflammation at different locations between the LTEVB 12C group and the placebo group (all P>0.05). The results of logistic regression analysis (taking the antrum lesser curvature as the reference) further confirmed that the reversal rates of chronic inflammation ( OR=0.22, 95% confidence interval (95% CI): 0.07 to 0.67; OR=0.24, 95% CI: 0.07 to 0.80), atrophy ( OR=0.28, 95% CI: 0.16 to 0.49; OR=0.28, 95% CI: 0.16 to 0.49), and intestinal metaplasia ( OR=0.42, 95% CI: 0.24 to 0.77; OR=0.20, 95% CI: 0.08 to 0.52) at the corpus lesser curvature and corpus greater curvature were all higher than those at the antrum lesser curvature, and the differences were statistically significant (all P<0.05). There were no statistically siginificant differences in the reversal rates of the aforementioned pathological features between the antrum greater curvature, gastric angle, and the antrum lesser curvature (all P>0.05). Conclusion:LTEVB 12C can achieve good efficacy in the treatment of CAG, and the chronic inflammation, atrophy, and intestinal metaplasia at multiple locations are improved, especially at the corpus lesser curvature and the corpus greater curvature.
10.MAX germline mutation-associated pheochromocytoma-paraganglioma syndrome: multiple endocrine neoplasia type 5
Xiaoping QI ; Weiying CHEN ; Xudong FANG ; Bijun LIAN ; Hongyuan YU ; Junwei WANG
Chinese Journal of Surgery 2024;62(8):798-804
The individualized precision management of hereditary pheochromocytoma (PHEO) and paraganglioma (PGL) syndromes (PPGLs) based on molecular diagnosis and molecular subtype is becoming more popular. The newly discovered MAX germline mutation-associated PPGLs are autosomally dominant and rare. To raise awareness and explore the effective management of individual diagnosis and treatment, the relevant literature published between January 2011 and February was systematically reviewed. There were a total of 101 patients in the 77 families, involving all 5 exons, containing 44 types of MAX germline mutations and mostly concentrated in exons 3 and 4 (64.4%), the main mutations were nonsense mutations and missense mutations (72.3%), and some were large fragment deletions or insertions, intron variant, gene fusion mutations were relatively infrequent. Furthermore, about 10% of the patients had a paternal parent-of-origin effect. Among the 101 patients, 96 (95.0%) developed PHEO including 15 metastatic PHEO, 61 bilateral PHEO and 35 unilateral PHEO. The age of diagnosis was (31.7±10.9) years (range: 13 to 80 years). The male to female ratio was 1.2∶1. Eleven were accompanied with chest and abdominal PGL. Eight (7.9%) were accompanied by functional pituitary adenoma. And 12 (11.9%) developed other neuroendocrine tumors (NET), of which 8 were accompanied by PHEO, including 4 hyperparathyroidism, 1 gangliocytoma and neuroblastoma, 1 pancreatic NET, 1 medullary thyroid carcinoma and 1 C cell hyperplasia. Six presented concomitant non-NET, including 1 tongue squamous cell carcinoma, 1 papillary thyroid carcinoma, 1 prostate cancer, 1 renal oncocytoma, 1 breast cancer with renal oncocytoma, and 1 thoracic chondrosarcoma with multifocal adenocarcinoma of lung. The remaining 5 cases (5.0%), including 4 other NET (2 ganglioblastoma, 1 abdominal neuroblastoma and 1 pancreatic NET) and 1 asymptomatic child, did not present PHEO. The MAX germline mutation may cause a novel multiple endocrine neoplasia, which can be described as type 5. A comprehensive baseline assessment of neural crest cell-derived diseases such as PPGL, pituitary adenoma, hyperparathyroidism, and/or gangliocytoma (neuroblastoma) was recommended for all people with MAX germline mutations, and the risk of bilateral and/or metastatic PHEO should also be considered. In contrast, patients with PPGLs combined with other NET, such as functional pituitary adenoma, should undergo genetic testing and pedigree screening that includes at least the MAX gene.


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