1.Study on the Evaluation Method of Collaborative Dust Prevention Effect with Coal Miners-Based on Feature Reduction, Genetic Algorithm, and Backpropagation
Shulei SHI ; Haotian ZHENG ; Haoyang LI ; Xue WANG
Safety and Health at Work 2026;17(1):83-90
Background:
High coal dust exposure threatens miners’ occupational health and safety. While dust control is mainly implemented by enterprises, miners’ active participation is crucial for effective collaborative prevention. This study develops a feature reduction, genetic algorithm, and backpropagation (RS-GA-BP) hybrid evaluation model integrating behavioral and psychosocial factors to quantitatively assess collaborative dust prevention performance in coal mines.
Methods:
Guided by the theory of collaborative dust prevention among coal miners, this study incorporated human factors into the evaluation framework of prevention effectiveness. Using the rough set method, five key influencing factors were identified from twelve candidate variables. A prediction model for collaborative dust prevention effectiveness (RS-GA-BP) was then developed and applied by optimizing the BP neural network with a genetic algorithm.
Results:
The results indicated that technical context, conformity tendency, group cohesion, group driving force, and group dissipative force were the principal factors influencing collaborative prevention outcomes. Based on 955 survey responses from front-line coal miners, the model was trained and validated. The results showed that the GA-BP model outperformed the traditional BP model in terms of root mean square error, mean absolute error, and mean absolute percentage error, achieving a prediction accuracy of 95.73%.
Conclusion
The research results indicate that the RS-GA-BP model can effectively evaluate the dust prevention and control effectiveness among coal miners, thereby enriching the methodological framework for assessing dust prevention effectiveness in coal mines.
2.Analysis of Clinical and Phenomics Characteristics of Patients with Phlegm-Stasis Binding Syndrome and Its Accompanied Patterns in Stable Angina Pectoris of Coronary Heart Disease
Chongchai LI ; Han LI ; Zheng LI ; Zeng LI ; Yushi ZHOU ; Yuhan AO ; Shuang XU ; Xue WANG ; Yaoyao SUN ; Dongning WU ; Hongcai SHANG ; Mingxue ZHANG
Journal of Traditional Chinese Medicine 2026;67(14):1514-1522
ObjectiveTo explore the clinical and phenomics characteristics of patients with phlegm-stasis binding syndrome and its accompanied patterns in stable angina pectoris (SAP) of coronary heart disease (CHD). MethodsA multicenter cross-sectional study design was adopted. A total of 300 patients with SAP of CHD were enrolled and classified into 120 cases of phlegm-stasis binding syndrome, 125 cases of qi deficiency-accompanied syndrome, 38 cases of qi stagnation-accompanied syndrome, and 17 cases of toxin accumulation-accompanied syndrome according to traditional Chinese medicine (TCM) patterns. Data of patients with different TCM patterns were collected, including general condition, TCM symptoms, blood lipids, coagulation function, immune indicators, and serum metabolomics. Metabolic pathway enrichment analysis was used to compare differences in phenomics characteristics among groups. Metabolites with variable importance in projection (VIP) ≥1 and fold change (FC) ≥2 were considered as representative differential metabolites. ResultsPatients in each TCM pattern type were most commonly in the 60-75 years age group, with a relatively high proportion of males. Regarding TCM symptoms, patients with phlegm-stasis binding syndrome most commonly presented with wiry-choppy or wiry-slippery pulse, chest pain, and chest tightness; in patients with qi deficiency-accompanied syndrome, fatigue, chest pain, and weak pulse were most common; in patients with qi stagnation-accompanied sydnrome, wiry-choppy or wiry-slippery pulse, chest pain, and symptoms that increase or decrease with emotional changes, belching, or flatulence were most common; in patients with toxin accumulation-accompanied syndrome, bitter taste in the mouth, chest tightness, irritability, restlessness or manic delirium, and dry and hard stools or foul-smelling diarrhea were most common. Comparisons among the different TCM patterns showed statistically significant differences in coagulation parameters (P<0.05), whereas no statistically significant difference was found in blood lipid levels and immune indicators (P>0.05).Metabolomics analysis suggested that disorders of glycerophosphate metabolism and valine, leucine, and isoleucine metabolism are characteristic features of phlegm-stasis binding syndrome and its accompanied patterns. The representative differential metabolites between phlegm-stasis binding syndrome and qi deficiency-accompanied syndrome were 7,8-dihydrobiopterin (FC = 3.58) and oxypurinol (FC = 124.50). Those between phlegm-stasis binding syndrome and qi stagnation-accompanied syndrome were cytidine 5′-diphosphocholine (FC = 2.62) and D-mannosamine (FC = 2.99). Those between phlegm-stasis binding syndrome and toxin accumulation-accompanied syndrome were anserine (FC = 7.83) and canrenone (FC = 8.94). ConclusionThere are certain differences in the clinical characteristics and phenomics characteristics among patients with SAP due to CHD exhibiting phlegm-stasis binding syndrome and its accompanied patterns. The phenomics characteristics mainly involve biological alterations such as lipid metabolism disorders, amino acid metabolism abnormalities, and multiple immune indicators activation, which may provide a reference for precise differentiation and treatment of SAP of CHD in TCM clinical practice.
3.Analysis of Clinical and Phenomics Characteristics of Patients with Phlegm-Stasis Binding Syndrome and Its Accompanied Patterns in Stable Angina Pectoris of Coronary Heart Disease
Chongchai LI ; Han LI ; Zheng LI ; Zeng LI ; Yushi ZHOU ; Yuhan AO ; Shuang XU ; Xue WANG ; Yaoyao SUN ; Dongning WU ; Hongcai SHANG ; Mingxue ZHANG
Journal of Traditional Chinese Medicine 2026;67(14):1514-1522
ObjectiveTo explore the clinical and phenomics characteristics of patients with phlegm-stasis binding syndrome and its accompanied patterns in stable angina pectoris (SAP) of coronary heart disease (CHD). MethodsA multicenter cross-sectional study design was adopted. A total of 300 patients with SAP of CHD were enrolled and classified into 120 cases of phlegm-stasis binding syndrome, 125 cases of qi deficiency-accompanied syndrome, 38 cases of qi stagnation-accompanied syndrome, and 17 cases of toxin accumulation-accompanied syndrome according to traditional Chinese medicine (TCM) patterns. Data of patients with different TCM patterns were collected, including general condition, TCM symptoms, blood lipids, coagulation function, immune indicators, and serum metabolomics. Metabolic pathway enrichment analysis was used to compare differences in phenomics characteristics among groups. Metabolites with variable importance in projection (VIP) ≥1 and fold change (FC) ≥2 were considered as representative differential metabolites. ResultsPatients in each TCM pattern type were most commonly in the 60-75 years age group, with a relatively high proportion of males. Regarding TCM symptoms, patients with phlegm-stasis binding syndrome most commonly presented with wiry-choppy or wiry-slippery pulse, chest pain, and chest tightness; in patients with qi deficiency-accompanied syndrome, fatigue, chest pain, and weak pulse were most common; in patients with qi stagnation-accompanied sydnrome, wiry-choppy or wiry-slippery pulse, chest pain, and symptoms that increase or decrease with emotional changes, belching, or flatulence were most common; in patients with toxin accumulation-accompanied syndrome, bitter taste in the mouth, chest tightness, irritability, restlessness or manic delirium, and dry and hard stools or foul-smelling diarrhea were most common. Comparisons among the different TCM patterns showed statistically significant differences in coagulation parameters (P<0.05), whereas no statistically significant difference was found in blood lipid levels and immune indicators (P>0.05).Metabolomics analysis suggested that disorders of glycerophosphate metabolism and valine, leucine, and isoleucine metabolism are characteristic features of phlegm-stasis binding syndrome and its accompanied patterns. The representative differential metabolites between phlegm-stasis binding syndrome and qi deficiency-accompanied syndrome were 7,8-dihydrobiopterin (FC = 3.58) and oxypurinol (FC = 124.50). Those between phlegm-stasis binding syndrome and qi stagnation-accompanied syndrome were cytidine 5′-diphosphocholine (FC = 2.62) and D-mannosamine (FC = 2.99). Those between phlegm-stasis binding syndrome and toxin accumulation-accompanied syndrome were anserine (FC = 7.83) and canrenone (FC = 8.94). ConclusionThere are certain differences in the clinical characteristics and phenomics characteristics among patients with SAP due to CHD exhibiting phlegm-stasis binding syndrome and its accompanied patterns. The phenomics characteristics mainly involve biological alterations such as lipid metabolism disorders, amino acid metabolism abnormalities, and multiple immune indicators activation, which may provide a reference for precise differentiation and treatment of SAP of CHD in TCM clinical practice.
4.Self-Supervised Multi-Organ Segmentation in Pediatric Abdominal CT Based on Vision Foundation Models
Qinghua ZHANG ; Ming LI ; Zhedian ZHOU ; Jian ZHENG ; Huadan XUE ; Qiuxia WANG ; Yu DU ; Zhen LI
Medical Journal of Peking Union Medical College Hospital 2026;17(4):954-962
To address the scarcity of annotated data for pediatric abdominal CT imaging and the insufficient generalization capability of existing models, we constructed a self-supervised pretraining architecture tailored for pediatric CT domain adaptation based on the visual foundation model DINOv3, and validated its performance in the task of pediatric abdominal multi-organ segmentation. We built a general-purpose radiological visual representation using the large-scale adult CT dataset CT-3M, and introduced a Gram-anchoring mechanism that employs a frozen adult pretrained model as a structural teacher to guide domain alignment of local topological structures on unlabeled pediatric CT data. Combined with a multi-scale feature aggregation strategy and a lightweight Primus decoder, downstream segmentation tasks were evaluated on a public pediatric CT dataset. Based on case-wise paired results, we compared the mean Dice similarity coefficient (DSC) and mean intersection over union (IoU) between our model and the baseline nnU-Net using the Wilcoxon signed-rank test, and computed the relative performance improvements. A total of 867 abdominal CT imaging cases were collected, constituting a pretraining dataset comprising 367 588 two-dimensional CT slices. On the public Pediatric-CT-SEG dataset (359 cases), our model achieved a mean DSC of (71.38±1.08)% and a mean IoU of (63.73±1.01)%, representing improvements of 3.22% and 3.59% over the baseline nnU-Net, respectively, with statistically significant differences ( The self-supervised pretraining framework proposed in this study effectively alleviates the domain shift between adult and pediatric abdominal CT images, significantly enhances segmentation accuracy for pediatric abdominal multi-organs-particularly small organs and structures with complex boundaries-and provides a reliable technical solution for intelligent pediatric imaging analysis in scenarios with limited annotated data.
5.Sesquiterpene ZH-13 from Aquilariae Lignum Resinatum Improves Neuroinflammation by Regulating JNK Phosphorylation
Ziyu YIN ; Yun GAO ; Junjiao WANG ; Weigang XUE ; Xueping PANG ; Huiting LIU ; Yunfang ZHAO ; Huixia HUO ; Jun LI ; Jiao ZHENG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(1):139-145
ObjectiveTo study the pharmacological substances and mechanisms through which sesquiterpene ZH-13 from Aquilariae Lignum Resinatum improves neuroinflammation. MethodsBV-2 microglial cells were stimulated with lipopolysaccharide (LPS) to induce neuroinflammation. The cells were divided into the normal group, the model group, and the ZH-13 low- and high-dose treatment groups (10, 20 μmol·L-1). The model group was treated with 1 μmol·L-1 LPS. Cell viability was assessed using the cell proliferation and activity assay (CCK-8 kit). Nitric oxide (NO) release in the cell supernatant was measured using a nitric oxide kit (Griess method). The mRNA expression levels of interleukin-1β (IL-1β), tumor necrosis factor-α (TNF-α), inducible nitric oxide synthase (iNOS), and interleukin-6 (IL-6) were detected by real-time fluorescence quantitative polymerase chain reaction (Real-time PCR). The phosphorylation of mitogen-activated protein kinase (MAPK) pathway proteins was assessed by Western blot. ResultsCompared with the model group, ZH-13 dose-dependently reduced NO release from BV-2 cells under LPS stimulation (P<0.05, P<0.01). In the 20 μmol·L-1 ZH-13 treatment group, the mRNA expression levels of IL-1β, TNF-α, iNOS, and IL-6 were significantly reduced compared to the model group (P<0.05, P<0.01). In both the low- and high-dose ZH-13 groups, the expression of the inflammatory factor TNF-α and the phosphorylation of c-Jun N-terminal kinase (JNK) in the upstream MAPK pathway were significantly reduced (P<0.05). After stimulation with the JNK agonist anisomycin (Ani), both low- and high-dose ZH-13 treatment groups showed reduced phosphorylation of JNK proteins compared to the Ani-treated group (P<0.01). ConclusionThe sesquiterpene compound ZH-13 from Aquilariae Lignum Resinatum significantly ameliorates LPS-induced neuroinflammatory responses in BV-2 cells by inhibiting excessive JNK phosphorylation and reducing TNF-α expression. These findings elucidate the pharmacological substances and mechanisms underlying the sedative and calming effects of Aquilariae Lignum Resinatum.
6.Effect and Mechanism of Wulingsan Decoction in Protecting Blood Brain Barrier and Ameliorating Cerebral Edema after Intracerebral Hemorrhage in Mice
Damei TAO ; Huihong LI ; Xiaoqing ZHENG ; Yunfei DENG ; Wei WEI ; Xiehua XUE
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(4):1-9
ObjectiveTo study the effect of Wulingsan on cerebral edema after intracerebral hemorrhage (ICH) in mice and explore the treatment mechanism. MethodsThe mouse model of ICH was established by injection of collagenase into the caudate nucleus. Mice were randomly assigned into the following groups: sham, ICH, intervention before modeling with low-dose and high-dose (3.69, 11.07 g·kg-1, respectively) Wulingsan, and intervention after modeling with high-dose Wulingsan. The modified neurological severity score (mNSS) was recorded, and the small animal MRI T2 sequential scanning was performed to measure the volume of cerebral hemorrhage after the modeling of ICH in each group. The Y-maze test, open field test, and Morris water maze test were conducted to evaluate the neurological behaviors of mice in each group. Hematoxylin-eosin staining was employed to observe the pathological changes in the brain tissue. Immunohistochemistry was employed to observe the expression of aquaporin 4 (AQP4), neuronal nuclei (NeuN), and glial fibrillary acidic protein (GFAP) in the brain tissue. Western blot was employed to determine the protein levels of AQP4, Claudin-5, and zonula occludens-1 (ZO-1) in the hematoma area. ResultsCompared with the sham group, the ICH group showed increases in the mNSS, the cerebral hemorrhage volume, and the escape latency in the Morris water maze test (P<0.01), decreases in the times of touching the platform and times of entering the quadrant where the platform was located in the Morris water maze test, and reductions in the spontaneous alternation rate in the Y-maze test and the ratio of distance of center travel to total travel distance in the open field test (P<0.01). Moreover, pathological changes such as cell disarrangement, cell space enlargement, and cell swelling were observed in the ICH group. Immunohistochemistry results showed that the ICH group had higher proportions of AQP4- and GFAP-positive cells and lower proportion of NeuN-positive cells than the sham group (P<0.01). Compared with the sham group, the ICH group showed an up-regulated protein level of AQP4 and down-regulated protein levels of Claudin-5 and ZO-1 (P<0.01). Compared with the ICH group, the intervention with Wulingsan decreased the mNSS, the volume of cerebral hemorrhage, and the escape latency in the Morris water maze test (P<0.05, P<0.01), while increasing the times of touching the platform and times of entering the quadrant where the platform was located in the Morris water maze test, the spontaneous alternation rate in the Y-maze test, and the ratio of distance of center travel to total travel distance in the open field test (P<0.05, P<0.01). Furthermore, the intervention with Wulingsan alleviated the pathological changes in the brain tissue after ICH, decreased the proportion of AQP4- and GFAP-positive cells (P<0.01), increased the proportion of NeuN-positive cells (P<0.01), down-regulated the protein level of AQP4 (P<0.01), and up-regulated the protein levels of Claudin-5 and ZO-1 (P<0.01). ConclusionThe intervention with Wulingsan could reduce the neural function score and the cerebral hemorrhage volume, up-regulate the expression of Claudin-5 and ZO-1, and down-regulate the expression of AQP4 to ameliorate the neurological function defect and cerebral edema after ICH, thereby protecting the brain.
7.Effect of electroacupuncture combined with low-frequency transcranial ultrasound stimulation on the electroencephalographic signals of rats with traumatic brain injury
Simiao GAO ; Xue HAN ; Xiaoguang WU ; Jinyu ZHENG ; Fangwen GAO ; Kuihua LI ; Yong PENG ; Lanxiang LIU
Chinese Journal of Tissue Engineering Research 2025;29(2):402-408
BACKGROUND:Traumatic brain injury is a condition in which the normal function of the brain is disrupted by a bump or impact to the head.It is necessary to find effective treatments and objective targets that can help doctors diagnose the injury status and restore the brain function of patients. OBJECTIVE:To explore the effect of electroacupuncture combined with low-frequency transcranial ultrasound stimulation on the electroencephalographic signals of rats with traumatic brain injury. METHODS:Forty 6-week-old SPF male Sprague-Dawley rats were randomly divided into five groups:sham group,model group,electroacupuncture group,low-frequency transcranial ultrasound stimulation group and combined group(electroacupuncture+low-frequency transcranial ultrasound stimulation),with eight rats in each group.Feeney weight-drop method was used to establish the animal model of traumatic brain injury.In the sham group,the bone window was only opened without impact.Interventions were started at 1 day after modeling.Electroacupuncture in the electroacupuncture group,low-frequency transcranial ultrasound stimulation in the low-frequency transcranial ultrasound stimulation group,and electroacupuncture+low-frequency transcranial ultrasound stimulation in the combined group were performed for days in total.The modified neurological severity scale score for assessing rats'neurological deficits was performed at 8 hours after modeling.The percentage of spontaneous alternation behavior in the Y-maze was measured at 7 days after modeling.Then,the electroencephalographic signals were collected and electroencephalographic data of α,β,θ,and δ waves were extracted by fast Fourier transform,and the value of oscillation amplitude and energy ratio were calculated in α,β,θ,and δ waves,as well as the Lempel-Ziv complexity and sample entropy. RESULTS AND CONCLUSION:Compared with the sham group,the modified neurological severity scale scores in the model group,electroacupuncture group,low-frequency transcranial ultrasound stimulation group and combined group were significantly increased at 8 hours after modeling(P<0.05).Compared with the sham group,the value of oscillation amplitude in δ wave and the value of δ energy ratio were significantly increased in the model group at 7 days after modeling,meanwhile the percentage of spontaneous alternation behavior in Y-maze,and the value of α/β energy ratio,Lempel-Ziv complexity,and sample entropy were significantly decreased(P<0.05).Compared with the model group,the value of oscillation amplitude in α and δ waves was significantly decreased in the combined group(P<0.05),while the value of α/β energy ratio was significantly increased(P<0.05)and the value of δ energy ratio was significantly decreased(P<0.05)in the electroacupuncture group,low-frequency transcranial ultrasound stimulation group and combined group.Compared with the electroacupuncture group and low-frequency transcranial ultrasound stimulation group,the value of δ energy ratio was significantly decreased in the combined group(P<0.05),while the percentage of spontaneous alternation behavior,the value of α/β energy ratio,the Lempel-Ziv complexity,and the sample entropy were significantly increased(P<0.05).To conclude,abnormal electroencephalographic signals can appear in rats with traumatic brain injury,while the electroacupuncture combined with low-frequency transcranial ultrasound stimulation can alleviate the abnormal electroencephalographic signals in rats,which suggests the electroencephalographic frequency domain value and nonlinear features can be used to assess the severity of traumatic brain injury.
8.Targeted gene silencing in mouse testicular Sertoli and Leydig cells using adeno-associated virus vectors.
Jing PANG ; Mao-Xing XU ; Xiao-Yu WANG ; Xu FENG ; Yi-Man DUAN ; Xiao-Yan ZHENG ; Yu-Qian CHEN ; Wen YIN ; Ying LIU ; Ju-Xue LI
Asian Journal of Andrology 2025;27(5):627-637
Researchers commonly use cyclization recombination enzyme/locus of X-over P1 (Cre/loxP) technology-based conditional gene knockouts of model mice to investigate the functional roles of genes of interest in Sertoli and Leydig cells within the testis. However, the shortcomings of these genetic tools include high costs, lengthy experimental periods, and limited accessibility for researchers. Therefore, exploring alternative gene silencing techniques is of great practical value. In this study, we employed adeno-associated virus (AAV) as a vector for gene silencing in Sertoli and Leydig cells. Our findings demonstrated that AAV serotypes 1, 8, and 9 exhibited high infection efficiency in both types of testis cells. Importantly, we discovered that all three AAV serotypes exhibited exquisite specificity in targeting Sertoli cells via tubular injection while demonstrating remarkable selectivity in targeting Leydig cells via interstitial injection. We achieved cell-specific knockouts of the steroidogenic acute regulatory ( Star ) and luteinizing hormone/human chorionic gonadotropin receptor (Lhcgr) genes in Leydig cells, but not in Sertoli cells, using AAV9-single guide RNA (sgRNA)-mediated gene editing in Rosa26-LSL-Cas9 mice. Knockdown of androgen receptor ( Ar ) gene expression in Sertoli cells of wild-type mice was achieved via tubular injection of AAV9-short hairpin RNA (shRNA)-mediated targeting. Our findings offer technical approaches for investigating gene function in Sertoli and Leydig cells through AAV9-mediated gene silencing.
Animals
;
Male
;
Leydig Cells/metabolism*
;
Mice
;
Dependovirus/genetics*
;
Sertoli Cells/metabolism*
;
Gene Silencing
;
Genetic Vectors
;
Testis/cytology*
9.A quality improvement study on improving the follow-up rate of preterm infants after discharge.
He-Sheng CHANG ; Xue YANG ; Jun JU ; Wen-Ya XU ; Di WU ; Xiao-Man WAN ; Zheng-Hong LI
Chinese Journal of Contemporary Pediatrics 2025;27(2):148-154
OBJECTIVES:
To explore the measures to improve the follow-up rate of preterm infants after discharge, and to evaluate the effectiveness of these measures using quality improvement methodology.
METHODS:
The follow-up status of preterm infants discharged from March to May 2017 was used as the baseline before quality improvement, and a specific quality improvement goal for the follow-up rate was proposed. The Pareto chart was used to analyze the causes of follow-up failure, and a key driver diagram was constructed based on the links involved in improving follow-up rate. The causes of failure were analyzed to determine the key links and intervention measures for quality improvement, and the follow-up rate was monitored weekly using a control chart until the quality improvement goal was achieved.
RESULTS:
The follow-up rate of preterm infants after discharge was 57.92% (117/202) at baseline before quality improvement, and the quality improvement goal was set to increase the follow-up rate of preterm infants from baseline to more than 80% within 12 months. The Pareto chart analysis showed that the main causes of follow-up failure were deficiencies in follow-up file management and irregular follow-up times (33.70%, 31/92), insufficient follow-up education and poor communication (25.00%, 23/92), and the inability to meet the diverse needs of parents (18.48%, 17/92). Based on the key links for quality improvement and the main causes of follow-up failure, the following intervention measures were adopted: (1) strengthen follow-up publicity and education; (2) build a follow-up team; and (3) establish a follow-up platform and system. The control chart indicated that with the implementation of the above intervention measures, the weekly follow-up rate increased to 74.09% (306/413) in July 2017 and 83.09% (511/615) in December 2017, finally achieving the quality improvement goal. During the COVID-19 pandemic, the follow-up rate of preterm infants fluctuated between 23.54% (460/1 954) and 70.97% (1 931/2 721), and subsequently, it returned to pre-pandemic levels starting in February 2023.
CONCLUSIONS
The application of quality improvement methodology can help to formulate intervention measures based on the main causes of follow-up failure, thereby improving the follow-up rate of preterm infants after discharge. This quality improvement method is feasible and practical and thus holds promise for clinical application.
Humans
;
Quality Improvement
;
Infant, Premature
;
Infant, Newborn
;
Patient Discharge
;
Follow-Up Studies
;
Female
;
Male
10.Clinical Characteristics of Acute Leukemia Patients with PICALM∷MLLT10 Fusion Gene Positivity and Prognostic Analysis of Combined Venetoclax Targeted Therapy.
Cheng-Sen CAI ; Zhen YAO ; Ming-Zhu XU ; Zheng LI ; Yan-Jun WU ; Sheng-Li XUE
Journal of Experimental Hematology 2025;33(3):711-719
OBJECTIVE:
To investigate the clinical characteristics and prognostic of venetoclax (VEN) combined targeted therapy in acute leukemia (AL) patients with PICALM∷MLLT10 fusion gene positivity.
METHODS:
A retrospective analysis was conducted on 16 PICALM∷MLLT10-positive AL patients treated at the First Affiliated Hospital of Soochow University from January 2021 to August 2024. These patients were diagnosed by targeted RNA sequencing (RNA-seq) or reverse transcription multiplex PCR, including newly diagnosed and relapsed/refractory (R/R) cases. The immunophenotypes, genetic features, gene mutations, and the efficacy of VEN combination targeted therapy of patients were evaluated.
RESULTS:
Among the 16 cases, 3 were confirmed by reverse transcription multiplex PCR, and 13 were detected through targeted RNA-seq among 528 AL patients, with a detection rate of 2.46%. The averge age of patients was (28.0±8.58) years. Patients exhibited diverse immunophenotypes, including 7 cases of acute myeloid leukemia, 5 of acute T-lymphoblastic leukemia, 1 of acute B-lymphoblastic leukemia, 1 of acute undifferentiated leukemia, and 2 of mixed-phenotype acute leukemia. Among them, 11 had extramedullary disease (EMD), 14 expressed CD7, and 12 expressed CD33. Major co-occurring mutations included PHF6 (6 cases), NOTCH1 (5 cases), and 7 cases with complex karyotypes. Of the 12 patients who received standard induction therapy, 7 did not achieve remission (PR+NR). All 4 patients treated with VEN combination therapy achieved complete remission (CR). Among the 7 induction failure cases, 4 achieved CR upon re-induction with VEN, while the remaining 3 re-induced with standard therapy, did not achieve CR. Thirteen patients received allogeneic hematopoietic stem cell transplantation, including 6 who received maintenance therapy with hypomethylating agents (HMA) alone or in combination with VEN, and seven were followed up. Survival analysis showed that the overall survival was better in the maintenance therapy group (P =0.044).
CONCLUSION
PICALM∷MLLT10-positive AL involves multiple lineages and demonstrates poor response to conventional chemotherapy. VEN combination therapy shows promising efficacy in both newly diagnosed and R/R patients. Post-transplant maintenance therapy with HMA alone or combined with VEN may extend survival; however, further clinical validation is required.
Humans
;
Sulfonamides/therapeutic use*
;
Retrospective Studies
;
Prognosis
;
Bridged Bicyclo Compounds, Heterocyclic/therapeutic use*
;
Adult
;
Male
;
Female
;
Leukemia, Myeloid, Acute/genetics*
;
Mutation
;
Oncogene Proteins, Fusion/genetics*
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy*

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