1.Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures (version 2025)
Bolong ZHENG ; Wei MEI ; Yanzheng GAO ; Liming CHENG ; Jian CHEN ; Qixin CHEN ; Liang CHEN ; Xigao CHENG ; Jian DONG ; Jin FAN ; Shunwu FAN ; Xiangqian FANG ; Zhong FANG ; Shiqing FENG ; Haoyu FENG ; Haishan GUAN ; Yong HAI ; Baorong HE ; Lijun HE ; Yuan HE ; Hua HUI ; Weimin JIANG ; Junjie JIANG ; Dianming JIANG ; Xuewen KANG ; Hua GUO ; Jianjun LI ; Feng LI ; Li LI ; Weishi LI ; Chunde LI ; Qi LIAO ; Baoge LIU ; Xiaoguang LIU ; Xuhua LU ; Shibao LU ; Bin LIN ; Chao MA ; Xuexiao MA ; Renfu QUAN ; Limin RONG ; Honghui SUN ; Tiansheng SUN ; Yueming SONG ; Hongxun SANG ; Jun SHU ; Jiacan SU ; Jiwei TIAN ; Xinwei WANG ; Zhe WANG ; Zheng WANG ; Zhengwei XU ; Huilin YANG ; Jiancheng YANG ; Liang YAN ; Feng YAN ; Guoyong YIN ; Xuesong ZHANG ; Zhongmin ZHANG ; Jie ZHAO ; Yuhong ZENG ; Yue ZHU ; Rongqiang ZHANG
Chinese Journal of Trauma 2025;41(9):805-818
Acute symptomatic osteoporotic thoracolumbar compression fracture (ASOTLF) can lead to chronic low back pain, kyphosis deformity, pulmonary dysfunction, loss of mobility, and even life-threatening complications. Vertebral augmentation is currently the mainstream treatment method for this condition. In 2019, the Editorial Board of Chinese Journal of Trauma and the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association collaboratively led the development of Clinical guideline for vertebral augmentation for acute symptomatic osteoporotic thoracolumbar compression fractures. Six years later, with advances in clinical diagnosis and treatment techniques as well as accumulating evidence in related fields, the 2019 guideline requires updating. To this end, the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association, the Spinal Health Professional Committee of China Human Health Science and Technology Promotion Association, and the Minimally Invasive Orthopedics Professional Committee of Shaanxi Medical Doctor Association have organized experts in the field to develop the Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures ( version 2025) , based on the latest evidence-based medical researches. This guideline incorporates 3 recommendations retained from the 2019 version with updated strength of evidence, along with 12 new recommendations. It provides recommendations from six aspects of diagnosis, pain management, treatment option selection, prevention of postoperative complications, anti-osteoporosis therapy, and postoperative rehabilitation, aiming to provide a reference for standard treatment of vertebral augmentation for ASOTLF in hospitals at all levels.
2.TRIM4 modulates the ubiquitin-mediated degradation of hnRNPDL and weakens sensitivity to CDK4/6 inhibitor in ovarian cancer.
Xiaoxia CHE ; Xin GUAN ; Yiyin RUAN ; Lifei SHEN ; Yuhong SHEN ; Hua LIU ; Chongying ZHU ; Tianyu ZHOU ; Yiwei WANG ; Weiwei FENG
Frontiers of Medicine 2025;19(1):121-133
Ovarian cancer is the most lethal malignancy affecting the female reproductive system. Pharmacological inhibitors targeting CDK4/6 have demonstrated promising efficacy across various cancer types. However, their clinical benefits in ovarian cancer patients fall short of expectations, with only a subset of patients experiencing these advantageous effects. This study aims to provide further clinical and biological evidence for antineoplastic effects of a CDK4/6 inhibitor (TQB4616) in ovarian cancer and explore underlying mechanisms involved. Patient-derived ovarian cancer organoid models were established to evaluate the effectiveness of TQB3616. Potential key genes related to TQB3616 sensitivity were identified through RNA-seq analysis, and TRIM4 was selected as a candidate gene for further investigation. Subsequently, co-immunoprecipitation and GST pull-down assays confirmed that TRIM4 binds to hnRNPDL and promotes its ubiquitination through RING and B-box domains. RIP assay demonstrated that hnRNPDL binded to CDKN2C isoform 2 and suppressed its expression by alternative splicing. Finally, in vivo studies confirmed that the addition of siTRIM4 significantly improved the effectiveness of TQB3616. Overall, our findings suggest that TRIM4 modulates ubiquitin-mediated degradation of hnRNPDL and weakens sensitivity to CDK4/6 inhibitors in ovarian cancer treatment. TRIM4 may serve as a valuable biomarker for predicting sensitivity to CDK4/6 inhibitors in ovarian cancer.
Humans
;
Female
;
Ovarian Neoplasms/pathology*
;
Animals
;
Tripartite Motif Proteins/genetics*
;
Mice
;
Cyclin-Dependent Kinase 4/antagonists & inhibitors*
;
Cell Line, Tumor
;
Cyclin-Dependent Kinase 6/antagonists & inhibitors*
;
Protein Kinase Inhibitors/pharmacology*
;
Ubiquitin/metabolism*
;
Xenograft Model Antitumor Assays
;
Ubiquitination
;
Antineoplastic Agents/pharmacology*
3.Risk factors for bronchiolitis obliterans after Mycoplasma pneumoniae bronchiolitis in children
Xiaohui WEN ; Haiming YANG ; Xiaoyan ZHANG ; Huimin LI ; Ruxuan HE ; Weihan XU ; Yuhong GUAN ; Jinrong LIU ; Shunying ZHAO ; Chengsong ZHAO
Chinese Journal of Pediatrics 2025;63(7):772-777
Objective:To explore the risk factors for bronchiolitis obliterans (BO) after Mycoplasma pneumoniae bronchiolitis in children. Methods:A retrospective cohort study was conducted on 122 children diagnosed with Mycoplasma pneumoniae bronchiolitis in Department No.2 of Respiratory Medicine of Beijing Children′s Hospital, Capital Medical University, from March 2017 to December 2024. Clinical data, including general information, clinical manifestations, imaging findings, laboratory tests, and outcomes, were analyzed. Patients were divided into BO and non-BO groups based on the presence of BO. Differences between groups were assessed using Mann-Whitney U test, χ2 test, or Fisher exact test. Logistic regression and receiver operating characteristic (ROC) curve analysis were employed to identify risk factors and evaluate predictive performance. Results:Among 122 children (73 males, 49 females), the age at onset was 5.0 (2.4, 7.1) years. The BO group included 21 patients, and the non-BO group 101. The BO group exhibited significantly longer durations of persistent high fever and higher peak levels of C-reactive protein, lactate dehydrogenase, and D-dimer compared to the non-BO group (9 (7, 11) vs. 4 (2, 6) d, 19 (7, 35) vs. 10 (7, 18) mg/L, 438 (337, 498) vs. 315 (274, 351) U/L, 0.36 (0.27, 0.91) vs. 0.21 (0.15, 0.29) mg/L, U=295.00, 743.50, 463.50, 470.50, all P<0.05). The BO group also had higher proportions of resting oxygen saturation <0.95 on room air (100.0% (21/21) vs. 43.6% (44/101)), inspiratory retractions (57.1% (12/21) vs. 18.8% (19/101), χ2=11.53), and adenovirus co-infection (38.1% (8/21) vs. 5.0% (5/101)) (all P<0.05). Multivariate Logistic regression identified prolonged high fever ( OR=1.83, 95% CI 1.31-2.58, P<0.001), inspiratory retractions ( OR=10.48, 95% CI 1.72-63.85, P=0.011), and adenovirus co-infection ( OR=42.47, 95% CI 4.04-446.87, P=0.002) as independent risk factors for BO. ROC curve analysis revealed that a fever duration cutoff of 7.5 days predicted BO with 0.71 sensitivity and 0.92 specificity. Conclusions:Prolonged high fever (≥7.5 days), inspiratory retractions, and adenovirus co-infection are significant predictors of BO after Mycoplasma pneumoniae bronchiolitis in children, which are helpful for early clinical identification.
4.Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures (version 2025)
Bolong ZHENG ; Wei MEI ; Yanzheng GAO ; Liming CHENG ; Jian CHEN ; Qixin CHEN ; Liang CHEN ; Xigao CHENG ; Jian DONG ; Jin FAN ; Shunwu FAN ; Xiangqian FANG ; Zhong FANG ; Shiqing FENG ; Haoyu FENG ; Haishan GUAN ; Yong HAI ; Baorong HE ; Lijun HE ; Yuan HE ; Hua HUI ; Weimin JIANG ; Junjie JIANG ; Dianming JIANG ; Xuewen KANG ; Hua GUO ; Jianjun LI ; Feng LI ; Li LI ; Weishi LI ; Chunde LI ; Qi LIAO ; Baoge LIU ; Xiaoguang LIU ; Xuhua LU ; Shibao LU ; Bin LIN ; Chao MA ; Xuexiao MA ; Renfu QUAN ; Limin RONG ; Honghui SUN ; Tiansheng SUN ; Yueming SONG ; Hongxun SANG ; Jun SHU ; Jiacan SU ; Jiwei TIAN ; Xinwei WANG ; Zhe WANG ; Zheng WANG ; Zhengwei XU ; Huilin YANG ; Jiancheng YANG ; Liang YAN ; Feng YAN ; Guoyong YIN ; Xuesong ZHANG ; Zhongmin ZHANG ; Jie ZHAO ; Yuhong ZENG ; Yue ZHU ; Rongqiang ZHANG
Chinese Journal of Trauma 2025;41(9):805-818
Acute symptomatic osteoporotic thoracolumbar compression fracture (ASOTLF) can lead to chronic low back pain, kyphosis deformity, pulmonary dysfunction, loss of mobility, and even life-threatening complications. Vertebral augmentation is currently the mainstream treatment method for this condition. In 2019, the Editorial Board of Chinese Journal of Trauma and the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association collaboratively led the development of Clinical guideline for vertebral augmentation for acute symptomatic osteoporotic thoracolumbar compression fractures. Six years later, with advances in clinical diagnosis and treatment techniques as well as accumulating evidence in related fields, the 2019 guideline requires updating. To this end, the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association, the Spinal Health Professional Committee of China Human Health Science and Technology Promotion Association, and the Minimally Invasive Orthopedics Professional Committee of Shaanxi Medical Doctor Association have organized experts in the field to develop the Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures ( version 2025) , based on the latest evidence-based medical researches. This guideline incorporates 3 recommendations retained from the 2019 version with updated strength of evidence, along with 12 new recommendations. It provides recommendations from six aspects of diagnosis, pain management, treatment option selection, prevention of postoperative complications, anti-osteoporosis therapy, and postoperative rehabilitation, aiming to provide a reference for standard treatment of vertebral augmentation for ASOTLF in hospitals at all levels.
5.Risk factors for bronchiolitis obliterans after Mycoplasma pneumoniae bronchiolitis in children
Xiaohui WEN ; Haiming YANG ; Xiaoyan ZHANG ; Huimin LI ; Ruxuan HE ; Weihan XU ; Yuhong GUAN ; Jinrong LIU ; Shunying ZHAO ; Chengsong ZHAO
Chinese Journal of Pediatrics 2025;63(7):772-777
Objective:To explore the risk factors for bronchiolitis obliterans (BO) after Mycoplasma pneumoniae bronchiolitis in children. Methods:A retrospective cohort study was conducted on 122 children diagnosed with Mycoplasma pneumoniae bronchiolitis in Department No.2 of Respiratory Medicine of Beijing Children′s Hospital, Capital Medical University, from March 2017 to December 2024. Clinical data, including general information, clinical manifestations, imaging findings, laboratory tests, and outcomes, were analyzed. Patients were divided into BO and non-BO groups based on the presence of BO. Differences between groups were assessed using Mann-Whitney U test, χ2 test, or Fisher exact test. Logistic regression and receiver operating characteristic (ROC) curve analysis were employed to identify risk factors and evaluate predictive performance. Results:Among 122 children (73 males, 49 females), the age at onset was 5.0 (2.4, 7.1) years. The BO group included 21 patients, and the non-BO group 101. The BO group exhibited significantly longer durations of persistent high fever and higher peak levels of C-reactive protein, lactate dehydrogenase, and D-dimer compared to the non-BO group (9 (7, 11) vs. 4 (2, 6) d, 19 (7, 35) vs. 10 (7, 18) mg/L, 438 (337, 498) vs. 315 (274, 351) U/L, 0.36 (0.27, 0.91) vs. 0.21 (0.15, 0.29) mg/L, U=295.00, 743.50, 463.50, 470.50, all P<0.05). The BO group also had higher proportions of resting oxygen saturation <0.95 on room air (100.0% (21/21) vs. 43.6% (44/101)), inspiratory retractions (57.1% (12/21) vs. 18.8% (19/101), χ2=11.53), and adenovirus co-infection (38.1% (8/21) vs. 5.0% (5/101)) (all P<0.05). Multivariate Logistic regression identified prolonged high fever ( OR=1.83, 95% CI 1.31-2.58, P<0.001), inspiratory retractions ( OR=10.48, 95% CI 1.72-63.85, P=0.011), and adenovirus co-infection ( OR=42.47, 95% CI 4.04-446.87, P=0.002) as independent risk factors for BO. ROC curve analysis revealed that a fever duration cutoff of 7.5 days predicted BO with 0.71 sensitivity and 0.92 specificity. Conclusions:Prolonged high fever (≥7.5 days), inspiratory retractions, and adenovirus co-infection are significant predictors of BO after Mycoplasma pneumoniae bronchiolitis in children, which are helpful for early clinical identification.
6.Evaluation of the efficacy and safety of intravenous infusion of ferric derisomaltose in the treatment of iron deficiency anemia: a single-center retrospective analysis
Shaoxue DING ; Yihui ZHAO ; Ting WANG ; Jing GUAN ; Limin XING ; Hong LIU ; Guojin WANG ; Xiaoming WANG ; Yuhong WU ; Wen QU ; Jia SONG ; Huaquan WANG ; Lijuan LI ; Zonghong SHAO ; Rong FU
Chinese Journal of Hematology 2024;45(2):178-183
Objective:To investigate the clinical efficacy and safety of ferric derisomaltose injection versus iron sucrose injection in the treatment of iron deficiency anemia (IDA) .Methods:A total of 120 patients with iron deficiency anemia admitted from June 2021 to March 2023 were given intravenous iron supplementation with ferric derisomaltose to assess the efficacy and safety of hemoglobin (HGB) elevation before and after treatment. Simultaneously, the clinical effects of iron supplementation with iron sucrose were compared to those of inpatient patients during the same period.Results:Baseline values were comparable in both groups. Within 12 weeks of treatment, the elevated HGB level in the ferric derisomaltose group was higher than that of the iron sucrose group, with a statistical difference at all time points, and the proportion of HGB increased over 20 g/L in the patients treated for 4 weeks was higher (98.7%, 75.9% ). During the treatment with ferric derisomaltose and iron sucrose, the proportion of mild adverse reactions in the ferric derisomaltose group was slightly lower than that of the iron sucrose group, and neither group experienced any serious adverse reactions. The patients responded well to the infusion treatment, with no reports of pain or pigmentation at the injection site.Conclusion:The treatment of IDA patients with ferric derisomaltose has a satisfactory curative effect, with the advantages of rapidity, accuracy, and safety. Therefore, it is worthy of widespread clinical use.
7.Efficacy and safety of eltrombopag in the treatment of primary immune thrombocytopenia: real-world data from a single medical center
Xifeng DONG ; Yalan LI ; Nianbin LI ; Weinan LIN ; Ting WANG ; Huaquan WANG ; Lijuan LI ; Wen QU ; Limin XING ; Hong LIU ; Yuhong WU ; Guojin WANG ; Jia SONG ; Jing GUAN ; Xiaoming WANG ; Zonghong SHAO ; Rong FU
Chinese Journal of Hematology 2024;45(3):271-276
Objective:This study aimed at investigating the efficacy and safety of eltrombopag in the treatment of adult primary immune thrombocytopenia (ITP) and evaluated the factors influencing its efficacy and side effects.Methods:A total of 198 patients with adult ITP who were admitted to Tianjin Medical University General Hospital between January 2018 and March 2022 were retrospectively analyzed. The efficacy of each starting dose of eltrombopag was evaluated, and adverse events were analyzed. The factors influencing efficacy were investigated, including sex, age, adult ITP type, platelet antibodies, and combined drug treatments.Results:Of the 198 patients, 70 males and 128 females with a median age of 45 years (18-88 years) were included; 130 (65.7%) had newly diagnosed adult ITP, 25 (12.6%) had persistent adult ITP, and 43 (21.7%) had chronic adult ITP. The bleeding event scores at baseline were assessed; 84.3% had scores of<4 and 15.7% had scores of ≥4. The eltrombopag response rate (initial response) at 6 weeks was 78.8% (complete response [CR]: 49.0%; CR1: 14.6%; CR2: 15.2%). The median response time to eltrombopag was 7 (7, 14) days. The initial response rates to 25, 50, and 75 mg eltrombopag were 74.1%, 85.9%, and 60.0%, respectively ( P=0.031). The initial response rate to the 50 mg dose was significantly higher than that of the 25-mg and 75-mg doses. Two patients received 100 mg as the starting dose, and their initial response was 0. Regarding dose adjustment, 70.7% of the patients remained on the starting dose, 8.6% underwent dose adjustment to 50 mg, and 6.1% underwent dose adjustment to 75 mg. Another two patients underwent dose adjustment to 100 mg. After dose adjustment, the persistent response rates were 83.6%, 85.3%, and 85.7% for the 25-, 50-, and 75-mg doses, respectively, with no significant difference. After dose adjustment, the sustained efficacy rate for the 100-mg dose (4 patients) was 100.0%. After 6 weeks of treatment with eltrombopag, the overall bleeding score of patients with ITP decreased. The number of patients with a score of ≥4 decreased to 0, the number of patients with a score of<4 decreased, and there was no significant change in the number of patients with a score of 1-2. The most common adverse event associated with eltrombopag was impaired liver function (7.7%). No thrombosis events or other adverse events were observed. ITP type and number of megakaryocytes significantly affected the initial response to eltrombopag. The initial response rates to eltrombopag for newly diagnosed adult ITP, persistent adult ITP, and chronic adult ITP were 85.3%, 56.0%, and 76.2%, respectively ( P=0.003). For megakaryocytes, the initial response rates were 61.8%, 87.1%, and 84.3% ( P=0.009) for the decreased, normal, and increased megakaryocyte groups, respectively. Conclusion:Eltrombopag, as a second-line or higher treatment for adult ITP, has a rapid onset of action and good safety. The initial response rate is significantly higher with a dose of 50 mg than with a dose of 25 mg. Patients with newly diagnosed ITP and those with normal or increased megakaryocyte numbers have a higher initial response rate to eltrombopag.
8.A single-center analysis of pathogenic bacteria distribution and drug resistance in bacterial bloodstream infections among patients with hematological diseases
Mengting CHE ; Chaomeng WANG ; Hui LIU ; Haifang KONG ; Lijuan LI ; Jia SONG ; Huaquan WANG ; Guojin WANG ; Yuhong WU ; Jing GUAN ; Limin XING ; Wen QU ; Hong LIU ; Xiaoming WANG ; Zhidong HU ; Zonghong SHAO ; Rong FU
Chinese Journal of Hematology 2024;45(10):937-943
Objective:To analyze the distribution and drug resistance of pathogens of bacterial bloodstream infection in patients with hematological diseases in the Department of Hematology of Tianjin Medical University General Hospital, and to provide etiological data for clinical empirical anti-infection treatment.Methods:A retrospective analysis was conducted on the general clinical information, pathogenic bacteria and drug susceptibility test results of patients with hematological diseases diagnosed with bacterial bloodstream infection by menstrual blood culture in our center from January 2016 to December 2022.Results:Patients included 498 inpatients, with a total of 639 bacterial strains. Among the patients, 86.9% patients had malignancies, and 76.7% had agranulocytosis. Symptoms of concurrent infections, including those of the respiratory tract, oral mucosa, skin and soft tissues, and abdominal sources were observed in 68.3% patients. Gram-negative bacteria (G -) accounted for 79.0% of the isolated bacteria, and gram-positive bacteria (G +) accounted for 21.0%. The top five isolated pathogens were Klebsiella pneumoniae (22.5%), Escherichia coli (20.8%), Pseudomonas aeruginosa (15.0%), Enterococcus faecium (5.5%), and Stenotrophomonas maltophilum (5.0%). Escherichia coli exhibited a decreasing trend of resistance to quinolones, cephalosporins, and carbapenems. Klebsiella pneumoniae exhibited increasing rates of resistance to quinolones and cephalosporins between 2016 and 2018, but the rated decreased after 2019. The resistance rate to carbapenems exhibited by Pseudomonas aeruginosa was approximately 20%. Carbapenem-resistant strains of Pseudomonas aeruginosa strains were first detected in 2017, with a peak resistance rate of 35.7%, detected in 2019. A 60.0% resistance rate to methicillin was observed in methicillin-resistant coagulase-negative staphylococci (MRCNS), and one case of linezolid-resistant MRCNS was detected. Conclusions:Pathogenic bacteria of bacterial bloodstream infections were widely distributed in our center, and precautions are warranted against carbapenem resistant P. aeruginosa and Klebsiella pneumoniae.
9.Predictive value of serum thrombospondin-1,D-dimer and tissue inhibitor of metalloproteinase-1 levels in late pregnancy for postpartum hemorrhage in re-pregnant women with scarred uterus
Xiangjie LI ; Yanfang REN ; Yuhong WANG ; Quanhua ZHANG ; Wenli GUAN
Journal of Xinxiang Medical College 2024;41(2):138-142
Objective To investigate the predictive value of serum thrombospondin-1(THBS-1),D-dimer(D-D)and tissue inhibitor of metalloproteinase-1(TIMP-1)levels in late pregnancy for postpartum hemorrhage(PPH)in re-pregnant women with scarred uterus.Methods Totally 108 re-pregnant women with scarred uterus admitted to the First Affiliated Hospital of Xinxiang Medical University from June 2020 to August 2022 were selected and divided into the PPH group(n=21)and the non-PPH group(n=87)according to whether PPH occurred after delivery.On the day of admission,5 mL elbow venous blood was collected from re-pregnant women in the two groups,and the levels of serum THBS-1,D-D and TIMP-1 of pregnant women in the two groups were detected by enzyme-linked immunosorbent assay.The serum THBS-1,D-D TIMP-1 levels and clinical data of pregnant women between the two groups were compared.The influencing factors on the occurrence of PPH in re-pregnant women with scarred uterus were analyzed by multivariate logistic regression,and the predictive value of serum THBS-1,D-D and TIMP-1 levels on the occurrence of PPH in re-pregnant women with scarred uterus was evaluated by receiver operating characteristic curve.Results The percentage of patients with ≥ 2 induced abortions,placental abruption,uterine incision laceration,uterine inertia or scar thickness<0.3 cm,as well as serum THBS-1 and D-D levels in late pregnancy in the PPH group were significantly higher than those in the non-PPH group,and serum TIMP-1 level in late pregnancy were significantly lower than that in the non-PPH group(P<0.05).The uterine inertia,as well as high D-D and THBS-1 levels,were independent risk factors for PPH in re-pregnant women with scarred uterus(P<0.05),and low TIMP-1 level was a protective factor(P<0.05).The area under the curve of combined serum THBS-1,D-D and TIMP-1 levels to predict PPH in re-pregnant women with scarred uterus was greater than that predicted by the three factors alone(P<0.05).Conclusion Serum THBS-1,D-D and TIMP-1 levels in late pregnancy can be used as reference indicators for predicting the occurrence of PPH in re-pregnant women with scarred uterus,and the combination of the three indexes is more effective in predicting the occurrence of PPH.
10.Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria
Yingying CHEN ; Hui LIU ; Liyan LI ; Lijuan LI ; Huaquan WANG ; Jia SONG ; Yuhong WU ; Jing GUAN ; Limin XING ; Guojin WANG ; Wen QU ; Hong LIU ; Xiaoming WANG ; Zonghong SHAO ; Rong FU
Chinese Journal of Hematology 2023;44(7):561-566
Objective:This study aimed to investigate the role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria (PNH) patients.Methods:A retrospective analysis was conducted on the clinical data and gene sequencing results of 45 patients with classic PNH admitted to the Department of Hematology, Tianjin Medical University General Hospital, from June 2018 to February 2022. MUC4 gene mutations in patients with classic PNH were summarized, and the risk factors for thrombotic events in these patients were analyzed. Additionally, the effects of MUC4 gene mutations on the cumulative incidence and survival of thrombotic events in patients with classic PNH were determined.Results:The detection rate of MUC4 gene mutations in patients with classic PNH who experienced thrombotic events (thrombotic group) was 68.8% (11/16), which was significantly higher than that in the non-thrombotic group [10.3% (3/29) ] ( P<0.001). All mutations occurred in exon 2. MUC4 mutation ( OR=20.815, P=0.010) was identified as an independent risk factor for thrombotic events in patients with classic PNH. The cumulative incidence of thrombotic events was 78.6% (11/14) in the MUC4 gene mutation group (mutation group) and 16.1% (5/31) in the non-mutation group, showing a statistically significant difference between the two groups ( P<0.001). Survival analysis showed a lower overall survival (OS) rate in the thrombotic group compared with that in the non-thrombotic group [ (34.4±25.2) % vs. (62.7±19.3) % ] ( P=0.045). The OS rate of patients was (41.7±29.9) % in the mutation group and (59.1±18.3) % in the non-mutation group ( P=0.487) . Conclusion:MUC4 gene mutations are associated with an increased incidence of thrombotic events in classic PNH patients, highlighting their role as independent risk factors for thrombosis in this population. These mutations can be considered a novel predictive factor that aids in evaluating the risk of thrombosis in patients with classic PNH.

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