Objective To investigate the relationship between the protective mechanism of dexmedetomidine(Dex)against myocardial ischemia-reperfusion(I/R)injury and cuproptosis.Methods The Langendorff models were con-structed using SD rats(I/R group),which were divided into 4 groups according to different interventions during reperfusion as:sham group,I/R group,Dex group and Dex+ES-Cu group.The left ventricular peak pressure(LVSP)of the rats in the above four groups were continuously monitored in the immediate pre-ischemic period(T0),30 min of reperfusion(T1),60 min reperfusion(T2),90 min reperfusion(T3),2 h of reperfusion(T4).Left ventricular end-diastolic pressure(LVEDP),heart rate(HR),maximum rate of rise of left ventricular pressure(+dp/dtmax)and maximum rate of drop.Subsequently,the extent of myocardial infarction was shown by 1%triphenyltetrazoliumchloride(TTC)staining,and the degree of myocardial fibrosis was assessed by Sirius red staining;Myocardial enzyme profiles,oxidative stress and inflammation indexes were detected by ELISA;Copper ions were detected by copper ion detection kit in myocardial tissues;ATF3,SPI1 and FDX1 protein level expres-sion was detected by Western blot.Results Compared with the sham-operated group,the extent of myocardial in-farction and fibrosis increased in the I/R group(P＜0.05),the level of serum MDA,IL-6,IL-1β,and TNF-α was elevated(P＜0.05),and the activity of SOD and GSH-Px decreased(P＜0.05).The Dex group significantly alleviated the above changes in the I/R group,and compared with the Dex group,in the Dex+ES-Cu group myocardi-al tissue copper ion content at the end of perfusion was increased(P＜0.05).Both ATF3 and SPI1 protein were in-creased and FDX1 protein was decreased(P＜0.05).Conclusions Dex can regulate copper metabolism and improve myocardial ischemia-reperfusion injury(MI/RI)resulted from oxidative stress and inflammation in rat model.

Objective To analyze the role of NOD-like receptor thermal protein domain associated protein 3(NLRP3)inflammasome in a therapeutic mild hypothermia(34℃)treated isolated rat myocardial ischemia-reperfusion model and explore its mechanism.Methods Sixty clean grade adult male SD rats,aged 7-10 weeks,weighing 250-300 g.Using a random number table method,the rats were divid-ed into five groups:blank control group(group S),myocardial ischemia-reperfusion group(group IR),34℃mild hypothermia post-treated myocardial ischemia-reperfusion group(group MH),34℃mild hypother-mia post-treated myocardial ischemia-reperfusion+3-TYP group(group HT),and 34℃mild hypothermia post-treated myocardial ischemia-reperfusion+3-TYP+MCC950 group(group HTM),12 rats in each group.Group S perfused the rat heart at 37℃with a balanced perfusion solution for 180 minutes.Group IR re-ceived balanced perfusion of the rat heart at 37℃for 30 minutes,followed by ischemia for 30 minutes and reperfusion with 37℃perfusion for 120 minutes.Group MH perfused the rat heart at 37℃for 30 minutes,followed by ischemia for 30 minutes and reperfusion with 34℃perfusion solution for 120 minutes.Group HT perfused the hearts of rats at 37℃for 30 minutes,followed by ischemia for 30 minutes,silent mating type information regulation 2 homolog 3(sirt3)inhibitor 3-TYP was added to the perfusate,and then per-fused at 34℃for 120 minutes.Group HTM perfused the hearts of rats at 37℃for 30 minutes,followed by ischemia for 30 minutes,sirt3 inhibitor 3-TYP and NLRP3 inhibitor MCC950 were added to the perfusate,and then perfused at 34℃for 120 minutes.The isolated heart was obtained 120 minutes after reperfusion,and the concentrations of IL-6 and IL-1β in the perfused cardiac fluid was measured using ELISA method,Western blot method for detecting the relative content of NLRP3 and sirt3 proteins in myocardial tissue,1%triphenyl tetrazolium chloride staining for calculating myocardial infarction area,and HE staining for observ-ing myocardial pathological changes.Results Compared with group S,HR were significantly slowed down,LVSP,±dp/dtmax were significantly decreased,and LVEDP were significantly increased 30,60,90,and 120 minutes after reperfusion,the concentrations of IL-6 and IL-1β in cardiac fluid leakage,and the per-centage of myocardial infarction area were significantly increased in groups IR,MH,HT,and HTM(P＜0.05),the content of sirt3 protein in myocardial tissue were significantly reduced,while the content of NLRP3 protein were significantly increased in groups IR,HT,and HTM(P＜0.05),the contents of sirt3 and NLRP3 protein in the myocardial tissue were significantly increased in group MH(P＜0.05).Com-pared with group IR,HR were significantly increased,LVSP,±dp/dtmax were significantly increased,and LVEDP were significantly decreased 30,60,90,and 120 minutes after reperfusion,the concentrations of IL-6 and IL-1β in cardiac fluid leakage and the percentage of myocardial infarction area were significantly decreased in groups MH and HTM(P＜0.05),the content of sirt3 protein in myocardial tissue was signifi-cantly increased,while the content of NLRP3 protein was significantly decreased in group MH(P＜0.05),the content of NLRP3 protein in myocardial tissue was significantly reduced in group HTM(P＜0.05).Compared with group MH,HR were significantly slowed down,LVSP,±dp/dtmax were significantly de-creased,and LVEDP were significantly increased 30,60,90,and 120 minutes after reperfusion,the con-centrations of IL-6 and IL-1β in cardiac fluid leakage,the percentage of myocardial infarction area,and the content of NLRP3 protein in myocardial tissue were significantly increased in group HT(P＜0.05),the content of sirt3 protein in myocardial tissue was significantly reduced in groups HT and HTM(P＜0.05).Compared with group HT,HR were significantly increased,LVSP,±dp/dtmax were significantly increased,and LVEDP were significantly decreased 30,60,90,and 120 minutes after reperfusion,the concentrations of IL-6 and IL-1β in cardiac fluid leakage,the percentage of myocardial infarction area,and the content of NLRP3 protein in myocardial tissue were significantly reduced in group HTM(P＜0.05).Conclusion Therapeutic mild hypothermia(34℃)can improve hemodynamic parameters of isolated hearts and reduce the concentrations of IL-6 and IL-1β,NLRP3 protein content in myocardial tissue,percentage of myocardial infarction area,improve myocardial pathological changes,and reduce myocardial ischemia-reperfusion injury in rats,the mechanism may be related to the mitochondrial mediated sirt3 pathway inhibiting the high expres-sion of inflammatory corpuscle NLRP3.

Objective:To evaluate the clinical and prognostic differences in acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) children under different diagnostic criteria (World Health Organization (WHO) 2016 and WHO 2022 criteria).Methods:In this retrospective cohort study, clinical characteristics and prognosis information of 260 acute myeloid leukemia (AML) children admitted to Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences from August 2017 to August 2021 were analyzed retrospectively. According to WHO 2016 and WHO 2022 diagnostic criteria, patients were divided into AML-MRC group and non-AML-MRC group, the prognostic and genetic differences between two groups were compared respectively. Meanwhile, the characteristics of children with 8 MRC-related genes defined in WHO 2022 diagnostic criteria were described. Mann-Whitney U test, chi-square test were used for comparison between groups. Survival curve was plotted by Kaplan-Meier method, and comparison between groups was performed by Log-Rank method. Results:Among the 260 children, there were 148 males and 112 females. The follow-up time was 26 (16, 38) months. A total of 28 children (10.8%) were diagnosed with AML-MRC according to the WHO 2016 diagnostic criteria. Compared with non-AML-MRC children, the frequency of PTPN11, RUNX11, SH2B3, MPL and STAG2 mutations was higher in AML-MRC children (25.0% (7/28) vs. 4.3% (10/232), 14.3% (4/28) vs. 3.9% (9/232), 10.7% (3/28) vs. 2.2% (5/232), 10.7% (3/28) vs. 2.2% (5/232), 10.7% (3/28) vs. 0.9% (2/232), all P<0.05). The 2-year overall survival (OS) and events free survival (EFS) rate of 28 AML-MRC children under WHO 2016 diagnostic criteria were worse than those of 232 non-AML-MRC children ((62.1±10.8)% vs. (94.5±1.6)%, χ2=22.1 ,P<0.001;(48.0±10.6)% vs. (70.9±3.2)%, χ2=6.33, P=0.012). Twenty-seven children (10.4%) were eventually diagnosed with AML-MRC according to WHO 2022 criteria, their 2-year OS rate were worse than 233 non-AML-MRC children ((60.8±11.1)% vs. (94.5±1.6)%, χ2=24.49 ,P<0.001), and there was no statistically significant difference in EFS rate between two groups at 2 years ((55.1±10.8)% vs. (70.1±3.2)%, χ2=2.44 , P=0.119). Conclusions:Compared with the 2022 WHO diagnostic criteria, the survival rates of children with AML-MRC under the 2016 WHO diagnostic criteria were worse than that of children without MRC.The new version of the AML-MRC diagnostic criteria emphasizes the importance of genes.

Objective:To investigate the effects of biologics on psychological status and quality of life in patients with inflammatory bowel disease (IBD).Methods:A cross-sectional survey was conducted in 42 hospitals in 22 provinces (autonomous regions and municipalities directly under the central government) from September 2021 to May 2022. General clinical information and the use of biologics were obtained from adult patients diagnosed with IBD who voluntarily participated in the study. Psychological status was evaluated using the Generalized Anxiety Disorder (GAD-7), Patient Health Questionnaire-9 (PHQ-9), Pittsburgh Sleep Quality Index (PSQI), and Inflammatory Bowel Disease Questionnaire (IBDQ) assessment tools. Counts were analyzed via the Chi-square test, and datasets that were not normally distributed were analyzed via nonparametric tests. P<0.05 was considered statistically significant. Results:A total of 2 478 valid questionnaires were collected. The GAD-7 score of the biologics group was significantly lower than that of the non-use group [6 (2, 9) vs. 7 (3, 10), Z=-3.49, P<0.001]. IBDQ scores [183 (158, 204) vs. 178 (152, 198), Z=-4.11, P<0.001], intestinal symptom scores [61 (52, 67) vs. 58 (49, 65), Z=-5.41, P<0.001], systemic symptom scores [28 (24, 32) vs. 27 (23, 31), Z=-2.37, P=0.018], emotional ability scores [69 (58, 77) vs. 67 (56, 75), Z=-3.58, P<0.001] and social ability scores [26 (22, 29) vs. 25 (22, 29), Z=-2.52, P=0.012] in the biologics group were significantly higher than in the non-use group. GAD-7 scores [5 (2, 9) vs. 6 (3, 10), Z=-3.50, P<0.001] and PSQI scores [6 (4, 9) vs. 6 (4, 9), Z=-2.55, P=0.011] were significantly lower in the group using infliximab than in the group not using it. IBDQ scores were significantly higher in patients using vedolizumab than in those not using it [186 (159, 205) vs. 181 (155, 201), Z=-2.32, P=0.021] and were also significantly higher in the group treated with adalimumab than in the group not treated with adalimumab [187 (159, 209) vs. 181 (155, 201), Z=-2.16, P=0.030]. However, ustekinumab had no significant effect on any of the scores. Conclusion:The use of biologics is strongly associated with improvements in anxiety status and quality of life in IBD patients.

Purpose: The unique chromosomal rearrangements of endometrial stromal sarcoma (ESS) make it possible to distinguish high-grade ESS (HGESS) and low-grade ESS (LGESS) from the molecular perspective. Analysis of ESS at the genomic and transcriptomic levels can help us achieve accurate diagnosis of ESS and provide potential therapy options for ESS patients. Materials and Methods: A total of 36 ESS patients who conducted DNA- and/or RNA-based next-generation sequencing were retrospectively enrolled in this study. The molecular characteristics of ESS at genomic and transcriptomic levels, including mutational spectrum, fusion profiles, gene expression and pathway enrichment analysis and features about immune microenvironment were comprehensively explored. Results: TP53 and DNMT3A mutations were the most frequent mutations. The classical fusions frequently found in HGESS (ZC3H7B-BCOR and NUTM2B-YWHAE) and LGESS (JAZF1-SUZ12) were detected in our cohort. CCND1 was significantly up-regulated in HGESS, while the expression of GPER1 and PGR encoding estrogen receptor (ER) and progesterone receptor (PR) did not differ significantly between HGESS and LGESS. Actionable mutations enriched in homologous recombination repair, cell cycle, and phosphoinositide 3-kinase/AKT/mammalian target of rapamycin pathways were detected in 60% of HGESS patients. Genes with up-regulated expression in HGESS were significantly enriched in five immune-related pathways. Most HGESS patients (85.7%) had positive predictors of immunotherapy efficacy. Moreover, immune microenvironment analysis showed that HGESS had relatively high immune infiltration. The degree of immune infiltration in HGESS patients with ZC3H7B-BCOR fusion was relatively higher than that of those with NUTM2B-YWHAE fusion. Conclusion This study investigated the molecular characteristics of ESS patients at the genomic and transcriptomic levels and revealed the potentially high sensitivity of targeted therapy and immunotherapy in a subset of HGESS with specific molecular features, providing a basis for guiding decision-making of treatment and the design of future clinical trials on precision therapy.

Objective:To investigate the clinical value of magnetic resonance imaging (MRI) based integrated deep learning model for predicting the times of linear staplers used in double stapling technique for middle-low rectal cancer resection.Methods:The retrospective cohort study was conducted. The clinicopathological data of 263 patients who underwent low anterior resection (LAR) for middle-low rectal cancer in Ruijin Hospital of Shanghai Jiaotong University School of Medicine from January 2018 to December 2022 were collected as training dataset. There were 183 males and 80 females, aged 63(55,68)years. The clinicopathological data of 128 patients with middle-low rectal cancer were collected as validation dataset, including 83 males and 45 females, with age as 65(57,70)years. The training dataset was used to construct the prediction model, and the validation dataset was used to validate the prediction model. Observation indicators: (1) clinicopathological features of patients in the training dataset; (2) influencing factors for ≥3 times using of linear staplers in the operation; (3) prediction model construction; (4) efficiency evaluation of prediction model; (5) validation of prediction model. Measurement data with skewed distribution were represented as M( Q1, Q3), and Mann-Whitney U test was used for comparison between groups. Count data were expressed as absolute numbers, and comparison between groups was conducted using the chi-square test. Wilcoxon rank sum test was used for non-parametric data analysis. Univariate analysis was conducted using the Logistic regression model, and multivariate analysis was conducted using the Logistic stepwise regression model. The receiver operating characteristic (ROC) curve was draw and the area under the curve (AUC) was calculated. The AUC of the ROC curve >0.75 indicated the prediction model as acceptable. Comparison of AUC was conducted using the Delong test. Results:(1) Clinicopathological features of patients in the training dataset. Of the 263 patients, there were 48 cases with linear staplers used in the operation ≥3 times and 215 cases with linear staplers used in the operation ≤2 times. Cases with preoperative serum carcinoembryonic antigen (CEA) >5 μg/L, cases with anastomotic leakage, cases with tumor diameter ≥5 cm were 20, 12, 13 in the 48 cases with linear staplers used ≥3 times in the operation, versus 56, 26, 21 in the 215 cases with linear staplers used ≤2 times in the operation, showing significant differences in the above indicators between them ( χ2=4.66, 5.29, 10.45, P<0.05). (2) Influencing factors for ≥3 times using of linear staplers in the operation. Results of multivariate analysis showed that preoperative serum CEA >5 μg/L and tumor diameter ≥5 cm were independent risk factors for ≥3 times using of linear staplers in the operation ( odds ratio=2.26, 3.39, 95% confidence interval as 1.15-4.43, 1.50-7.65, P<0.05). (3) Prediction model construction. According to the results of multivariate analysis, the clinical prediction model was established as Logit(P)=-2.018+0.814×preoperative serum CEA (>5 μg/L as 1, ≤5 μg/L as 0)+ 1.222×tumor diameter (≥5 cm as 1, <5 cm as 0). The image data segmented by the Mask region convolutional neural network (MASK R-CNN) was input into the three-dimensional convolutional neural network (C3D), and the image prediction model was constructed by training. The image data segmented by the MASK R-CNN and the clinical independent risk factors were input into the C3D, and the integrated prediction model was constructed by training. (4) Efficiency evaluation of prediction model. The sensitivity, specificity and accuracy of the clinical prediction model was 70.0%, 81.0% and 79.4%, respectively, with the Yoden index as 0.51. The sensitivity, specificity and accuracy of the image prediction model was 50.0%, 98.3% and 91.2%, respectively, with the Yoden index as 0.48. The sensitivity, specificity and accuracy of the integrated prediction model was 70.0%, 98.3% and 94.1%, respectively, with the Yoden index as 0.68. The AUC of clinical prediction model, image prediction model and integrated prediction model was 0.72(95% confidence interval as 0.61-0.83), 0.81(95% confidence interval as 0.71-0.91) and 0.88(95% confidence interval as 0.81-0.95), respectively. There were significant differences in the efficacy between the integrated prediction model and the image prediction model or the clinical prediction model ( Z=2.98, 2.48, P<0.05). (5) Validation of prediction model. The three prediction models were externally validated by validation dataset. The sensitivity, specificity and accuracy of the clinical prediction model was 62.5%, 66.1% and 65.6%, respectively, with the Yoden index as 0.29. The sensitivity, specificity and accuracy of the image prediction model was 58.8%, 95.5% and 92.1%, respectively, with the Yoden index as 0.64. The sensitivity, specificity and accuracy of the integrated prediction model was 68.8%, 97.3% and 93.8%, respectively, with the Yoden index as 0.66. The AUC of clinical prediction model, image prediction model and integrated prediction model was 0.65(95% confidence interval as 0.55-0.75), 0.75(95% confidence interval as 0.66-0.84) and 0.84(95% confidence interval as 0.74-0.93), respec-tively. There was significant differences in the efficacy between the clinical prediction model and the integrated prediction model ( Z=3.24, P<0.05). Conclusion:The MRI-based deep-learning model can help predicting the high-risk population with ≥3 times using of linear staplers in resection of middle-low rectal cancer with double stapling technique.

In the case of cardiac dysfunction， energy metabolism changes and the metabolism of myocardial substrates is reconstructed， as manifested by variation in the selection and utilization of energy substrates such as fatty acids and glucose. Persistent metabolic disorders of substrates will decrease energy supply， thus resulting in the occurrence and development of heart failure. Metabolic remodeling of substrate is resulted from the decline of visceral function and the accumulation of pathological products. Deficient Qi stagnation is the core pathogenesis. Deficient Qi （heart Qi deficiency， insufficient energy） is the root cause， which exists in the whole disease course. Stagnation （phlegm， blood stasis， fluid， lipid toxic products， lactic acid， etc.） is the symptom， which evidences the aggravation of the disease. Deficient Qi and stagnation are intertwined and causal， which form a spiral vicious circle. The typical syndrome is excess resulted from deficiency and deficiency-excess in complexity. The treatment principle is reinforcing healthy Qi and tonifying deficiency， dredging and removing pathogen. At the early stage， the method of reinforcing healthy Qi and tonifying deficiency （benefiting Qi） should be used， and the method of dredging and removing pathogen （activating blood） can be applied according to the conditions of patients. At the middle and late stages， both reinforcing healthy Qi and tonifying deficiency （benefiting Qi and warming Yang） and dredging and removing pathogen （activating blood， resolving stasis， and excreting water） should be emphasized. Chinese medicine can be applied according to the pathogenesis， thereby promoting the utilization of fatty acids， glucose， and other substrates and reducing the accumulation of toxic products derived from metabolic remodeling of substrate. Thus， both the root cause and symptoms can be alleviated， further improving cardiac energy metabolism and heart function.

Objective:To investigate the value of diffusion tensor imaging (DTI) in evaluating the cognitive function of patients with leukoaraiosis (LA).Methods:A prospective study was chosen. Sixty patients with LA admitted to our hospital from July 2019 to May 2021 were selected. All patients accepted brain MRI. According to Fazekas visual grading standards, these 60 LA patients were divided into mild LA group, moderate LA group, and severe LA group ( n=20). Mini-mental state examination (MMSE) was used to evaluate the cognitive function of these patients. Diffusion tensor imaging was used to analyze the fractional anisotropy (FA) values of 6 regions of interest, namely the frontal lobe, temporal lobe, occipital lobe, parietal lobe, anterior horn of lateral ventricle, and corpus callosum. The differences of general data, cognitive function and FA values among the 3 groups were compared. The cognitive functions were assessed based on FA values (FA scores), and compared with those evaluated by MMSE (clinical scores). Results:(1) Age and homocysteine (Hcy) level of patients in mild, moderate and severe LA groups were increased successively, with statistical differences ( P<0.05). As compared with that in the mild and moderate LA groups, the educational level of patients in the severe LA group was significantly lower ( P<0.05). (2) Memory scores of patients in mild LA group, moderate LA group and severe LA group decreased successively, with statistical differences ( P<0.05). As compared with mild LA group and moderate LA group, MMSE total scores and recall scores in severe LA group were statistically decreased ( P<0.05). (3) FA values of parietal lobe and corpus callosum were successively decreased in mild, moderate and severe LA groups, with significant differences ( P<0.05). As compared with those in the mild and moderate LA groups, the FA values of frontal lobe, temporal lobe, occipital lobe and anterior horn of lateral ventricle in severe LA group were significant decreased, ( P<0.05). (4) There were no significant differences in FA scores and clinical scores of cognitive function scores in mild LA group ( P>0.05), except for attention and counting scores. There were no significant differences in FA scores and clinical scores of cognitive function scores in moderate LA group ( P>0.05), except for language function scores and tMMSE otal scores. Except for scores of location orientation, attention and counting, FA scores and clinical scores of all cognitive function scores in the severe LA group were significantly different ( P<0.05). Conclusions:The LA severity is related to the patient's age, Hcy level, education level, and cognitive function. In patients with mild LA, the cognitive function can be assessed according to FA values in addition to attention and counting ability; in patients with moderate LA, cognitive function can be assessed according to FA values in addition to language function; the cognitive function of patients with severe LA cannot be assessed according to FA values.

Objective:To analyze the characteristics of colonoscopy in patients aged 75 and above.Methods:The clinical data of 216 elderly patients aged 75 and above undergoing colonoscopy in our hospital from August 2015 to June 2019 were retrospectively analyzed. According to WHO criteria, there were 140 cases in aged group (75 to 89 years old) and 76 cases in the advanced aged group (90 years old and over). Demographic data, colonoscopy completion rate, bowel preparation quality, positive diagnosis rate and adverse events were analyzed and compared between the two groups.Results:More colonoscopies were performed under general anesthesia [7.9% (6/76) vs. 1.4% (2/140), χ 2=5.775, P<0.05] in the advanced aged group compared to the aged group, and the advanced aged group received lower doses of propofol and fentanyl when colonoscopies were administered with moderate sedation [(69.0±37.4) mg vs.(100.8±34.3)mg, t=6.302, P<0.01; (57.5±31.2) μg vs. (84.0±28.6)μg, t=6.297, P<0.01]. Colonoscopy completion was lower in the advanced aged group than that in the aged group[88.2%(67/76) vs. 99.3% (139/140), χ 2=13.815, P<0.01] and bowl preparation quality was worse [31.6%(24/76) vs. 15.0% (21/140), χ 2=8.209, P<0.05]. The proportion of adverse cardiopulmonary events [5.3%(4/76) vs. 0 (0/140), χ 2=7.507, P<0.01] and overall adverse events [9.2% (7/76) vs. 0.7% (1/140), χ 2=9.970, P<0.01] were higher in the advanced aged group than those in the elderly group. Colorectal cancer [14.5% (11/76) vs. 2.1% (3/140), χ 2=12.357, P<0.01] and advanced adenoma [27.6% (21/76) vs. 6.4% (9/140), χ 2=18.516, P<0.01] were more common in the advanced aged group than those in the aged group. Conclusion:Compared with the patients aged 75-89 years, patients aged 90 years and above have lower percentage of colonoscopy completion, lower quality of bowl preparation, and higher incidence of adverse events, and higher percentage of colorectal cancer and advanced adenomas detected.

Objective:To investigate the clinical characteristics, etiology, and prognosis of familial acute myeloid leukemia (AML) with germline CEBPA mutation and improve the understanding of familial leukemia.Methods:The age of onset, clinical characteristics, outcome, and prognosis of a family of patients with AML were investigated, and the family tree of the cases was displayed. Bone marrow and oral mucosal cells were collected from the proband, and peripheral blood was collected from the relatives of the proband. Gene mutation was detected by gene sequencing technology.Results:A total of 10 patients in this family were diagnosed with acute leukemia, including 4 males and 6 females, with a median age of 9 (3-48) years. Of the 10 patients, six died. Among them, 4 patients did not receive treatment, 1 patient survived 3 years after chemotherapy and died of relapse, and one patient died 2 years after receiving traditional Chinese medicine and supportive treatment. Four patients are alive. One patient has survived 15 years through chemotherapy, and three patients have survived with chemotherapy combined with hematopoietic stem cell transplantation, and the survival time was 6, 9, and 28 months at the end of follow-up. Gene sequencing was performed on proband and 8 relatives of the proband, and 5 were found to have the germline CEBPA TAD p.G36Afs*124 mutation. Among the 5 individuals with confirmed CEBPA mutation, 4 were diagnosed with AML, and 1 had not developed disease during follow-up.Conclusion:AML with germline CEBPA gene mutation mostly occurs in children and young adults, with complete or nearly complete penetrance. With active treatment, most of the patients have a favorable prognosis.