1.Application value of mycoplasma pneumoniae SAT detection in the diagnosis and treatment of mycoplasma pneumoniae pneumonia in children
Yuanyuan WANG ; Yanmei CHANG ; Lijuan YU ; Shuping MENG
China Modern Doctor 2025;63(26):28-32
Objective To assess the application value of mycoplasma pneumonia(MP)real-time fluorescence of RNA simultaneous amplification and testing(SAT)and MP antibody(MP-Ab)in the diagnosis of MP pneumonia(MPP)in children.Methods A total of 242 children with community-acquired pneumonia hospitalized at Beijing Haidian Hospital from September 2023 to October 2024 were enrolled as subjects.The children were divided into MPP group(n=193)and non-MPP group(n=49)based on MPP diagnosis.All children underwent simultaneous MP-SAT testing and initial MP-Ab detection within 24h of admission.MP-SAT results were monitored until they turned negative,with retesting for MP-Ab on 5-7d post-hospitalization in negative cases.The study compared diagnostic accuracy between MP-SAT and MP-Ab methods,while analyzing correlations between MP-SAT negative conversion time and clinical cure duration.Results For children with disease duration ≤ 7 days,MP-SAT demonstrated higher sensitivity than MP-Ab,with statistically significant difference(P<0.001).The concordance between MP-SAT and initial MP-Ab test results was weak(Kappa=0.072),while the consistency between MP-SAT and follow-up MP-Ab test results was moderate(Kappa=0.614,P<0.00 1).Both the clinical cure time and SAT seroconversion time were shorter with doxycycline treatment compared to azithromycin therapy.Conclusion The results of MP-SAT can be used to evaluate the condition of MPP children and guide the timely discontinuation of antibiotics.
2.Expert consensus on infection prevention and control of Creutzfeldt-Jakob disease in medical institutions
Tianxiang GE ; Yangyang JIA ; Chunhui LI ; Jianrong HUANG ; Xiujuan MENG ; Xiaodong GAO ; Jingping ZHANG ; Fu QIAO ; Lijuan XIONG ; Hui LIANG ; Wei LI ; Haiyan LOU ; Wenjuan WU ; Tianxin XIANG ; Jiansen CHEN ; Biao ZHU ; Kaijin XU ; Zhihui ZHOU ; Hongliu CAI ; Meihong YU ; Yan ZHANG ; Yanwan SHANGGUAN ; Haiting FENG ; Hangping YAO ; Lei GUO ; Tieer GAN ; Weihong ZHANG ; Jimin SUN ; Ye LU ; Qun LU ; Meng CAI ; Jin SHEN ; Yunsong YU ; Anhua WU ; Liu-yi LI ; Tingting QU
Chinese Journal of Infection Control 2025;24(4):437-450
Creutzfeldt-Jakob disease(CJD)is a rapidly progressive and fatal neurodegenerative disorder caused by prions,with certain infectivity and iatrogenic transmission risks.With the rapid progress and application of new dia-gnostic biomarkers and detection methods,as well as the construction and improvement of surveillance and reporting systems,the detection of CJD in patients domestically and internationally has shown an increasing trend year by year.Due to its long incubation period and heterogeneity of early symptoms,early identification and diagnosis of the disease is difficult,increasing the risk of transmission within medical institutions.Currently,there is a lack of con-sensus on the infection prevention and control of CJD.In order to timely identify and diagnose CJD as well as effec-tively block its transmission in medical institutions,this consensus summarizes 15 clinical concerns and formulates 24 specific recommendations based on the latest domestic and international research findings and clinical evidence,as well as combines with clinical practice,aiming to standardize healthcare-associated infection prevention and control measures for CJD and reduce its transmission risk in medical institutions.
3.Lycium barbarum polysaccharide intervenes in SH-SY5Y cell injury induced by beta-amyloid protein 1-42:protective effect of mitochondrial autophagy
Qin SU ; Siwei JIA ; Minfang GUO ; Tao MENG ; Yanbing LI ; Bingtao MU ; Lijuan SONG ; Cungen MA ; Jiezhong YU
Chinese Journal of Tissue Engineering Research 2025;29(31):6688-6696
BACKGROUND:Neurodegenerative diseases are closely related to the imbalance of mitochondrial autophagy regulation.Previous studies by the research group have shown that lycium barbarum polysaccharide has neuroprotective effects,but whether it can improve the damage of SH-SY5Y cells induced byβ-amyloid protein 1-42 by regulating mitochondrial autophagy is still unclear.OBJECTIVE:To explore the protective effect and mechanism of Lycium barbarum polysaccharide on SH-SY5Y cells induced by β-amyloid protein 1-42.METHODS:An Alzheimer's disease cell model was established by inducing SH-SY5Y cells with β-amyloid protein 1-42,and then intervening with Lycium barbarum polysaccharide.SH-SY5Y cells were divided into three groups:control group,β-amyloid protein 1-42 group(20 μmol/L β-amyloid protein 1-42 for 24 hours),and Lycium barbarum polysaccharide group(1 g/L Lycium barbarum polysaccharide was added 1 hour in advance to form a protective effect,and then 20 μmol/L β-amyloid protein 1-42 was added to intervene with Lycium barbarum polysaccharide for 24 hours).CCK8 assay was used to detect cell viability.Mitochondrial membrane potential was detected by JC-1.TUNEL staining was used to detect cell apoptosis.Immunofluorescence and western blot assay were used to detect the expression of synaptic,apoptosis,and mitophagy-related indicators.RESULTS AND CONCLUSION:(1)Compared with the control group,the cell viability of the β-amyloid protein 1-42 group decreased(P<0.05);cell apoptosis rate increased(P<0.05);mitochondrial membrane potential decreased(P<0.05);the expressions of pro-apoptotic proteins Bax and Caspase3 increased(P<0.05);the expression of anti-apoptotic protein Bcl-2 decreased(P<0.05);the expression levels of synaptic-related proteins Syn and PSD-95 decreased(P<0.05);the expression levels of mitochondrial autophagy-related proteins Pink1,LC3A/B,Parkin,and Beclin-1 decreased(P<0.05);and the expression of P62 increased(P<0.05).(2)Compared with the β-amyloid protein 1-42 group,the cell viability in the Lycium barbarum polysaccharide group was increased(P<0.05);the apoptosis rate was decreased(P<0.05);the mitochondrial membrane potential was increased(P<0.05);the expression levels of Bax and Caspase3 were decreased(P<0.05);the expression of Bcl-2 was increased(P<0.05);the expressions of Syn and PSD-95 were increased(P<0.05);the expression levels of Pink1,LC3A/B,Parkin,and Beclin-1 were increased(P<0.05),and the expression of P62 was decreased(P<0.05).These findings indicate that Lycium barbarum polysaccharide may inhibit β-amyloid protein 1-42-induced damage to SH-SY5Y cells by regulating mitophagy,reduce cell apoptosis,and increase neuronal synaptic plasticity.
4.18F-D3FSP PET/CT machine learning models for evaluating subjective cognitive decline
Fansheng MENG ; Zhanyu TIAN ; Wei GONG ; Liang XIONG ; Haizhuang JIANG ; Lijuan YU
Chinese Journal of Medical Imaging Technology 2025;41(4):573-577
Objective To observe the value of 18F-D3FSP PET/CT machine learning(ML)models for evaluating subjective cognitive decline(SCD).Methods Thirty-two SCD patients(SCD group)and 16 healthy volunteers(control group)who received 18F-D3FSP PET/CT were selected from Sino Longitudinal Study on Cognitive Decline(SILCODE)and divided into training set(n=34)and test set(n=14)at a ratio of 7∶3.Support vector machine(SVM),random forest(RF)and logistic regression(LR)models were constructed based on Hamilton anxiety scale(HAMA)and standard uptake value ratio(SUVR)of brain regions being significantly different between groups to evaluate SCD.Then PET/CT data were amplified by format conversion and divided into training set(including 8 775 CT images and 1 833 PET images)and test set(including 2 025 CT images and 423 PET images)at the ratio of 8∶2.VGG16 models were constructed based on CT and PET images to evaluate SCD,respectively.Results The area under the receiver operating characteristic curve(AUC)of SVM,RF and LR model for evaluating SCD in training set was all 1.000,while was 0.863,0.872 and 1.000 in test set,respectively.LR model was overfitting,and RF model had better performance.The accuracy of VGG16 model for evaluating SCD based on CT and PET images tended to be stable after the 175th and 150th iterations,with the highest accuracy of 67.11% and 65.35% in training set,which tended to be stable after the 165th and 145th iterations,with the highest accuracy of 62.43% and 59.16% in test set,respectively.Conclusion 18F-D3FSP PET/CT ML models could be used to evaluate SCD.
5.Clinical application of serum neutrophil gelatinase-associated lipocalin combined with cystatin C, blood creatinine, urea nitrogen and urine neutrophil gelatinase-associated lipocalin in the diagnosis of early diabetic nephropathy in elderly patients
Lijuan WANG ; Meng WANG ; Qiangyi WANG ; Qian ZHANG ; Wensong LIU
Chinese Journal of Geriatrics 2025;44(5):590-596
Objective:To investigate the clinical application value of cystatin C(CysC), neutrophil gelatinase-associated lipocalin(NGAL), urea nitrogen(UREA), blood creatinine(Scr)and urinary neutrophil gelatinase-associated lipocalin(NGAL)in early diabetic nephropathy and their relationship with aging.Methods:A total of 140 diabetic patients aged 60 and above who were admitted to Beijing Hospital from July 2022 to November 2022 and 59 healthy people aged 60 and above who underwent physical examination in Beijing hospital during the same period were selected as the study subjects.In January 2023, 157 healthy people over 20 years old who underwent physical examination in Beijing Hospital were used as another group of research objects to explore the relationship between various indicators and aging.According to the urinary microalbumin/urinary creatinine(UACR)ratio, the patients were divided into three groups: 40 patients with simple diabetes mellitus(DM), 57 patients with early diabetic nephropathy(EDN), and 43 patients with diabetic nephropathy(DN).59 healthy subjects were used as control group(NC group).Serum NGAL, Scr, Cys C, UREA and urinary NGAL were detected, and NGAL was determined by latex immunoturbidimetry.Scr was determined by sarcosine oxidase method.Cys C was determined by immunoturbidimetry.Urease-glutamate dehydrogenase method was used to determine UREA.Receiver operating characteristic(ROC)curve was drawn to analyze the diagnostic value of urea alone and combined diagnosis in EDN.The relationship between serum NGAL, Scr, Cys C, UREA and urinary NGAL and gender and aging were analyzed in 157 healthy individuals.Results:Compared to the NC group, serum NGAL, Scr, CysC, and UREA levels were significantly higher in the EDN and DN groups(all P<0.01), and the differences between EDN group, DN group and NC group were statistically significant( P<0.01).The values of these markers increased across the NC, DM, EDN, and DN groups.ROC curve shows: The area under curve(AUC)of serum NGAL, Scr, Cys C, UREA, urine NGAL, combined diagnosis 1 and combined diagnosis 2 were 0.655, 0.760, 0.789, 0.753, 0.628, 0.831, 0.827, respectively.The sensitivity of combined diagnosis 1 and combined diagnosis 2 was higher(63.2% and 66.7%), and the specificity of serum NGAL was higher(96.6%).The AUC values of Cys C, co-diagnosis 1, and co-diagnosis 2 were large and correlated(AUC=0.789, 0.831, 0.827, rs=0.501, 0.573, 0.567), and the diagnostic value of Cys C, co-diagnosis 1, and co-diagnosis 2 for EDN was high(AUC=0.789, 0.831, 0.827, Yoden index=0.442, 0.530, 0.531; sensitivity 56.1%, 63.2%, 66.7%; specificity 88.1%, 89.8%, 86.4%).Healthy individuals over 20 years of age: serum NGAL[(127.5±35.5)μg/L vs.(111.5±32.4)μg/L, P=0.004], Scr[(83.4±11.2)μmol/L versus(63.4±11.0)μmol/L, P<0.001], Cys C[(0.8±0.2)mg/L vs.(0.7±0.2)mg/L, P<0.001], and UREA levels were higher in males than females[(5.1±1.1)mmol/L vs.(4.6±1.1)mmol/ L, P=0.002]; urinary NGAL was higher in females than males[22.0(13.0, 37.8)μg/L vs.15.0(10.0, 30.5)μg/L, P=0.025].Cys C( F=16.582, P<0.001), urinary NGAL levels( F=-3.533, P<0.001)basically increased with age. Conclusions:CysC showed a higher diagnostic value for EDN than UREA, Scr, blood NGAL, and urine NGAL in patients aged 60 and above Combined diagnosis 1 and combined diagnosis 2 have higher value in monitoring the progress of DN.The levels of Cys C and urinary NGAL showed a gradually increasing trend with the increase of age, and the levels of serum NGAL, Scr, Cys C and UREA were higher in males than in females.Urinary NGAL was higher in females than males.
6.Differences in clinical and laboratory features and survival between Chinese and Western patients with myelodysplastic neoplasm
Linlin LIU ; Bing LI ; Tiejun QIN ; Zefeng XU ; Shiqiang QU ; Lijuan PAN ; Qingyan GAO ; Meng JIAO ; Yujiao JA ; Chenwen LI ; Qi SUN ; Huijun WANG ; Zhijian XIAO
Chinese Journal of Hematology 2025;46(3):223-230
Objective:To compare the clinical and laboratory characteristics and survival between Chinese and Western patients with myelodysplastic neoplasms (MDS) .Methods:Clinical and laboratory data were collected from 1,464 primary adult patients diagnosed with MDS at the Institute of Hematology & Blood Diseases Hospital from August 2016 to June 2024. Collected data were retrospectively analyzed and compared with 2,191 patients from the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM) .Results:Chinese patients were significantly younger (median age: 56 years vs. 72 years, P<0.001) and experienced more severe hematopenia ( P<0.001) compared with patients from the IWG-PM. Further, Chinese patients exhibited a higher percentage of isolated del (20q), +8, and complex karyotypes as well as a lower percentage of normal karyotypes, del (5q), and -Y ( P<0.001). Higher U2AF1, NRAS, and NPM1 mutation rates and lower ASXL1, SF3B1, and RUNX1 mutation rates were observed in Chinese patients than in participants from the IWG-PM ( P<0.05). No significant difference in overall survival (OS) was found between the two groups (median OS: 48 [95% CI: 40 - 56]months, vs. 45[95% CI: 40 - 49] months; P=0.449). Among participants aged ≤45 years, Chinese patients demonstrated more trisomy 8 ( P=0.070) and U2AF1 mutation ( P<0.001) and higher 4-year OS rate compared with those from the IWG-PM (75.5% vs. 62.1%, P=0.001). Among participants aged ≥70 years, Chinese patients exhibited more complex karyotypes but fewer del (5q) as well as more NPM1 but less SF3B1 and TET2 compared with those from the IWG-PM ( P<0.05). Chinese patients demonstrated shorter survival (median OS: 20 [95% CI: 13 - 27] months vs. 37 [95% CI: 32 - 42] months, P<0.001) . Conclusion:Chinese and Western MDS patients differ in age of onset, clinical features, and cytogenetic or molecular genetic abnormalities, with significant differences persisting in age-matched groups. Although the OS is similar, disparities exist in survival for younger and older patients between the two populations.
7.Analysis of the association between pre- and post-treatment genetic mutation status and treatment efficacy and survival in patients with newly diagnosed myelodysplastic syndromes with excess blasts receiving hypomethylating agent therapy
Ting ZHONG ; Tiejun QIN ; Zefeng XU ; Lijuan PAN ; Shiqiang QU ; Meng JIAO ; Qingyan GAO ; Zhijian XIAO ; Bing LI
Chinese Journal of Hematology 2025;46(5):417-424
Objective:To investigate the association between pre- and post-treatment gene mutation profiles and clinical outcomes (treatment response and prognosis) in patients with myelodysplastic syndromes with excess blasts (MDS-EB) receiving hypomethylating agent (HMA) monotherapy.Methods:The clinical characteristics, treatment efficacy, and survival outcomes of 69 treatment-naive patients with MDS-EB who underwent next-generation sequencing (NGS) before treatment and completed at least 4 cycles of HMA monotherapy at the Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, between June 2016 and September 2023, were retrospectively analyzed.Results:① The cohort comprised 47 males and 22 females with a median age of 62 years (range: 41-80). Thirty-nine patients were classified as MDS-EB1 and 30 as MDS-EB2. The median number of treatment cycles was 6 (range: 4-35). The median follow-up duration was 22 months (range: 5-72), and the median overall survival (OS) was 32 months (95% CI: 27-43). ② The presence of DTA (DNMT3A, TET2, or ASXL1) mutations, signaling pathway mutations, transcription factor mutations, or splicing factor mutations before HMA treatment showed no significant association with the best response within 4 treatment cycles, duration of response (DOR), or OS. TP53 mutation status was significantly associated with DOR and shorter OS. The median DOR was 3 months (95% CI: 1-10) for patients with biallelic TP53 mutations, 10 months (95% CI: 3-34) for those with monoallelic TP53 mutations, and 16 months (95% CI: 8-27) in patients without TP53 mutations ( P=0.032). The median OS was 16 months (95% CI: 7-38), 15 months (95% CI: 6-40), and 35 months (95% CI: 14-91), respectively ( P<0.001). ③ Neither the Revised International Prognostic Scoring System (IPSS-R) nor the Molecular International Prognostic Scoring System (IPSS-M) could predict the best response within 4 treatment cycles or DOR in patients receiving HMA therapy. ④ Among patients without TP53 mutations, the median OS was 55 months (95% CI: 9-106) for the major clone significant clearance group ( n=14) and 31 months (95% CI: 16-184) for the major clone non-significant clearance group ( n=10) ( P=0.013). For patients who responded to HMA treatment and had significant major clone clearance, the 3-year OS rate reached (77.8±13.9) %. Conclusion:For MDS-EB patients receiving HMA monotherapy, single gene mutations, IPSS-R, and IPSS-M could not effectively predict treatment outcomes before therapy. However, for patients without TP53 mutations, monitoring the degree of major clone clearance by NGS during treatment may predict the long-term efficacy in MDS patients receiving HMA therapy.
8.Efficacy and survival outcomes of patients with lymphocytic variant hypereosinophilic syndrome
Shiqiang QU ; Ningning LIU ; Tiejun QIN ; Zefeng XU ; Bing LI ; Lijuan PAN ; Meng JIAO ; Qingyan GAO ; Huijun WANG ; Xiaofei AI ; Zhijian XIAO
Chinese Journal of Hematology 2025;46(7):611-617
Objective:To analyze the clinical characteristics, therapeutic responses, and survival outcomes of patients with lymphocytic variant hypereosinophilic syndrome (L-HES) .Methods:We retrospectively reviewed clinical data from 16 consecutive patients diagnosed with L-HES at the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences, between July 2019 and October 2024. A control group of 65 patients with idiopathic hypereosinophilic syndrome (iHES), diagnosed during the same period, was used for comparison. Clinical and laboratory characteristics, therapeutic responses, and survival outcomes were compared between the two groups.Results:The most frequently involved organs at presentation in patients with L-HES were the skin (75.0%), gastrointestinal tract (25.0%), respiratory tract (18.8%), lymph nodes (18.8%), heart (12.5%), and spleen (6.3%). Compared with iHES patients, patients with L-HES had a significantly higher incidence of skin involvement ( P=0.016), with no statistically significant differences observed in the involvement of other organs. No statistically significant differences were found in complete blood count parameters between the two groups. Multiparameter flow cytometry revealed that the median percentage of CD3 -CD4 + T cells in the peripheral blood of patients with L-HES was 4.08% ( IQR: 1.64%-32.78%), with a median absolute count of 0.10 (0.05-0.55) ×10 9/L. Serum immunoglobulin E (IgE) levels were significantly higher in the L-HES group than in the iHES group ( P<0.001). Clonal rearrangement of T-cell receptor genes was detected in 75.0% of patients with L-HES. After diagnosis, 14 patients with L-HES received glucocorticoids as first-line therapy, yielding an overall response rate of 92.9%. During glucocorticoid tapering, 11 patients experienced recurrent eosinophilia or worsening of clinical symptoms. Three patients received interferon-alpha as a second-line therapy, with two achieving complete remission. After a median follow-up of 16 months ( IQR: 8-28 months), one patient died of cardiac insufficiency 8 months after diagnosis, and no cases of lymphoma transformation were observed. The 2-year overall survival rate was (91.7±8.0) %, which did not significantly differ from that of the iHES group (96.2±2.6) % ( P=0.746) . Conclusions:Patients with L-HES generally have a favorable prognosis and are often characterized by skin involvement and significantly elevated serum IgE levels at diagnosis. They typically respond well to glucocorticoid therapy, although relapse is common during dose tapering. Interferon-alpha may serve as an effective second-line therapeutic option.
9.Prognostic value of the FS-15 frailty score in patients with myelodysplastic syndromes
Xin WANG ; Tiejun QIN ; Zefeng XU ; Shiqiang QU ; Bing LI ; Lijuan PAN ; Qingyan GAO ; Meng JIAO ; Yue ZHONG ; Binhan JIANG ; Linlin LIU ; Jinying ZHAO ; Wenjun XIE ; Zhijian XIAO
Chinese Journal of Hematology 2025;46(9):806-814
Objective:To identify the prognostic value of the Revised 15-item Myelodysplastic Syndrome-specific frailty scale (FS-15) in Chinese patients with myelodysplastic syndromes (MDS) .Methods:This retrospective study analyzed 812 patients with newly diagnosed MDS admitted to the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences, and Peking Union Medical College from August 2016 to June 2023. Patients were assessed using the FS-15 and subsequently categorized into frail and non-frail groups. Clinical and laboratory characteristics, as well as overall survival (OS), were compared between these groups.Results:① The median patient age was 55 years ( IQR 45–64), with a median follow-up of 22.5 months (95% CI: 20.2–24.9) and a median OS of 43.3 months (95% CI: 36.8–49.8). The median FS-15 score was 0.42, with a cutoff value of 0.44. Male patients demonstrated higher median FS-15 scores than female patients (0.42 vs 0.38, P=0.006). In both the Revised International Prognostic Scoring System (IPSS-R; P=0.001) and Molecular International Prognostic Scoring System (IPSS-M; P=0.014) stratifications, FS-15 scores were significantly higher in the very high-risk group compared with the very low-risk group. ② The median OS was 54.7 months (95% CI: 47.5–NA) and 31.5 months (95% CI: 22.9–41.0) in the nonfrail ( n=452) and frail groups ( n=360), respectively ( P<0.001). The 3-year OS rates were (63.2 ± 3.2) % and (46.4 ± 3.6) % for the non-frail and frail groups, with 5-year OS rates of (49.9 ± 4.7) % and (32.0 ± 4.3) %, respectively ( P<0.001). ③Subgroup analysis revealed that nonfrail patients demonstrated significantly higher 3-year OS rates than frail patients in both the IPSS-M low-risk and very high-risk groups (all P<0.05). Similarly, nonfrail patients demonstrated superior 3-year OS rates compared with frail patients in the IPSS-R very low-risk, low-risk, and high-risk groups (all P<0.05). ④Among patients receiving hypomethylating agent therapy, the overall response rate was significantly higher in the non-frail group than in the frail group (86.7% vs 64.6%, P=0.007). Moreover, the frail group experienced higher rates of treatment-related adverse events, including febrile neutropenia (67.1% vs 47.4%, P=0.016) and liver function abnormalities (30.0% vs 14.5%, P=0.023), compared with the non-frail group. Conclusion:The FS-15 frailty score is a feasible and effective tool for assessing frailty in patients newly diagnosed with MDS in China and serves as a valuable prognostic indicator.
10.Clinical and molecular characteristics of myeloproliferative neoplasms patients with NFE2 gene mutations
Songyang ZHAO ; Bing LI ; Zefeng XU ; Tiejun QIN ; Shiqiang QU ; Lijuan PAN ; Meng JIAO ; Qingyan GAO ; Huijun WANG ; Qi SUN ; Yujiao JIA ; Yiru YAN ; Jingye GONG ; Fuhui LI ; Xin WANG ; Zhijian XIAO
Chinese Journal of Hematology 2025;46(10):943-951
Objective:To explore the clinical features and molecular characteristics of myeloproliferative neoplasms (MPNs) patients with NFE2 gene mutations.Methods:Gene targeted sequencing was used to detect NFE2 gene mutation in 723 patients diagnosed with MPNs who were admitted to Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College between April 2021 and June 2023. The association between NFE2 gene mutations and clinical features and molecular characteristics of MPNs patients were retrospectively analyzed.Results:Among 723 patients with MPNs, NFE2 gene mutations were found in 41 cases (5.7%) . NFE2 gene mutations were predominantly frameshift mutations (44.4%) , followed by nonsense mutations (33.3%) . The median number of mutations in patients with NFE2 gene mutations (4 [2,5]) was higher compared to the group without NFE2 gene mutations (2, [1,3]) ( P<0.001) . NFE2 gene mutations frequently co-occurred with mutations in MPL, ATM, PPM1D, and TET1. NFE2 gene mutations were mostly sub-clonal events, with 80.5% occurring after MPNs driver mutations (JAK2, CALR, or MPL) . NFE2 mutations were correlated with older age [median age: 60 (54, 67) years vs 54 (41, 63) years, P=0.001]. Patients with NFE2 gene mutations had a higher incidence of pre-diagnosis thrombosis (39.0% vs 22.0%, P=0.012) and pre-diagnosis arterial thrombosis (36.6% vs 20.4%, P=0.014) . Using a logistic regression analysis model adjusting for age and comorbidities (including chronic infections, malignancies, and autoimmune diseases) , NFE2 gene mutation was identified as an independent determinant of elevated tumor necrosis factor-alpha (TNF-α) ( OR=2.747, 95% CI: 1.143-6.605, P=0.024) , interferon-gamma (IFN-γ) ( OR=2.689, 95% CI: 1.191-6.076, P=0.017) , IL-10 ( OR=3.219, 95% CI: 1.343-7.717, P=0.009) , IL-12P70 ( OR=3.397, 95% CI:1.003-11.508, P=0.049) , IL-17 ( OR=2.284, 95% CI: 1.017-5.127, P=0.045) . In polycythaemia vera (PV) patients with the NFE2 gene mutation, the proportion of those classified as high-risk is notably higher in both the IWG-PV and mutation-enhanced international prognostic systems for PV (MIPSS-PV) (66.7% vs 25.3% for IWG-PV, P=0.033; 22.2% vs 2.0% for MIPSS-PV, P=0.013) . Similarly, for essential thrombocythaemia (ET) patients, the proportion in the high-risk group of the mutation-enhanced international prognostic systems for ET (MIPSS-ET) is significantly higher (15.4% vs 6.1%, P=0.021) . No statistically significant differences were observed in overall survival or cumulative incidence of thrombosis between NFE2-mutated (38 cases) and non-mutated MPNs patients (671 cases, P>0.05) . Conclusion:NFE2 gene mutations in MPNs were predominantly frameshift mutations. NFE2 gene mutations were correlated with older age, elevated levels of several inflammatory factors (including TNF-α、IFN-γ、IL-10、IL-12P70、IL-17) , and they mostly occurred in late-stage of MPNs.

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