OBJECTIVE: To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene. METHODS: A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001). RESULTS: Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively. CONCLUSION The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans ; Male ; Child ; Female ; Leukemia, Myeloid, Acute/drug therapy* ; Oncogene Proteins, Fusion/genetics* ; Translocation, Genetic ; Retrospective Studies ; RNA-Binding Protein FUS/genetics* ; Chromosomes, Human, Pair 16/genetics* ; Adolescent ; Child, Preschool ; Chromosomes, Human, Pair 21/genetics* ; Prognosis ; Treatment Outcome

OBJECTIVE: To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes. METHODS: The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342). RESULTS: Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all < 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months. CONCLUSION The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable for patient survival, and allo-HSCT during the CR1 period may improve patient survival.
Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Female ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics* ; Histone-Lysine N-Methyltransferase/genetics* ; Adult ; Adolescent ; Chromosomes, Human, Pair 11/genetics* ; Child ; Transcriptional Elongation Factors/genetics* ; Gene Rearrangement ; Oncogene Proteins, Fusion/genetics* ; Retrospective Studies ; Young Adult ; Middle Aged ; Prognosis ; Child, Preschool ; DNA-Binding Proteins/genetics*

Objective To investigate the association of the total burden of cerebral small vessel disease （CSVD） with the level of tumor necrosis factor-α（TNF-α） and prognosis in patients with ischemic stroke （AIS）. Methods A total of 120 patients with AIS who were admitted to our hospital from January 2022 to December 2023 were enrolled as subjects， and all patients underwent cranial MRI scanning. Baseline data and TNF-α level were compared between the patients with different total burden scores of CSVD， and the correlation between TNF-α level and CSVD total burden score was analyzed. TNF-α level and CSVD total burden score were compared between the AIS patients with different prognoses to investigate the influence of TNF-α and CSVD total burden score on the short-term prognosis of AIS， as well as their value in predicting the short-term prognosis of AIS. Results There were significant differences in age， the proportion of patients with hyperlipidemia， the proportion of patients with smoking， and the levels of TNF-α and Hcy between the patients with different CSVD total burden scores （P<0.05）. The level of TNF-α was positively correlated with the number of lacunar cerebral infarcts， Fazekas score of white matter lesions， and EPV score （r=0.654， 0.775， 0.820， P<0.05）， but it had no linear correlation with the number of cerebral microbleeds （r=-0.035，P>0.05）. The logistic regression analysis showed that before correction， age， hyperlipidemia， smoking， TNF-α，and Hcy were significantly correlated with lacunar infarction， white matter lesions， EPV severity， cerebral microbleeds，and CSVD total burden score （P<0.05）， and after correction， TNF-α was still significantly correlated with lacunar infarction， white matter lesions，cerebral microbleeds， EPV severity， and CSVD total burden scores （P<0.05）. There were significant differences in CSVD total burden score and TNF-α between the patients with a good prognosis and those with a poor prognosis（P<0.05）.TNF-α combined with CSVD total burden score had the largest area under the receiver operating characteristic curve（AUC） of 0.912 in predicting the short-term prognosis of AIS，which was significantly higher than the AUC of TNF-α or CSVD total burden score used alone（P<0.05）. Conclusion The increase in TNF-α level has a certain relationship with CSVD total burden score and short-term prognosis in AIS patients， and the combination of TNF-α level and CSVD total burden score has a relatively high clinical application value in predicting the short-term prognosis of AIS patients.
Prognosis

Objective To investigate the association of blood pressure variability （BPV） with early neurological deterioration （END） and prognosis in patients with acute mild non-disabling ischemic stroke. Methods The patients with acute mild non-disabling ischemic stroke who were admitted to Stroke Center of Affiliated Hospital of Inner Mongolia University for Nationalities from January 2022 to August 2024 were enrolled， and according to the presence or absence of END， they were divided into non-END group and END group. General information， clinical data， and outcome measures were collected from all patients， and a binary logistic regression analysis was performed to determine independent risk factors for END. According to the modified Rankin Scale （mRS） score， the patients were divided into good prognosis group （mRS score ≤2 points） and poor prognosis group （mRS score >2 points）， and a univariate logistic regression analysis was performed to investigate the influence of END on the 90-day neurological function prognosis of patients. Results A total of 61 patients were enrolled， with 14 patients in the END group and 47 patients in the non-END group. There was a significant difference in the coefficient of systolic pressure variation between the END group and the non-END group （P<0.05）. The binary logistic regression analysis showed that systolic BPV（BPV>75%） was an independent risk factor for END （OR=14.000， 95%CI 1.471‒133.233，P=0.011）.Compared with the non-END group， the END group had a significantly higher proportion of patients with a poor 90-day prognosis.Of all patients， there were 11 patients with poor prognosis and 50 patients with good prognosis on day 90. The univariate logistic regression analysis showed that END （OR=19.556，95%CI 4.038‒94.696，P<0.001） was an independent risk factor for poor prognosis. Conclusion In patients with acute mild non-disabling ischemic stroke， the increase in coefficient of systolic pressure variation is an independent risk factor for END and affects the prognosis of neurological function on day 90.
Prognosis

BACKGROUND

Early-stage endometrial cancer often presents with favorable survival rates, but high-risk factors, including TP53 mutations and high-grade serous pathology, can lead to recurrence and poor prognosis. The standard primary treatment for endometrial cancer is surgical staging, and lymph node metastases significantly impact adjuvant therapy decisions. The subgroup of p53-abnormal (p53abn) indicates the worst prognosis and potential benefits from adjuvant chemotherapy. Molecular classification, while recommended, faces practical challenges due to resource constraints.

OBJECTIVES

The study aimed to assess the incidence of p53 abnormal expression in clinical stage 1 endometrial cancer cases that underwent surgery at a government tertiary hospital, and assess its relationship with clinicopathologic factors and pelvic and paraaortic lymph node metastasis (LNM).

METHODS

A cross-sectional retrospective analysis was conducted on clinical early-stage endometrial cancer cases that underwent surgical primary treatment between January 2018 and December 2022. Patient records were reviewed to gather demographics, surgical information, and pathological evaluations. Preoperative clinical staging was determined through imaging, and surgical staging involved comprehensive lymphadenectomy. Immunohistochemistry studies for p53 were carried out on formalin-fixed paraffin-embedded tissue samples.

RESULTS

A total of 233 endometrial cancer cases were included. The mean age at diagnosis was 53.7 years. Common comorbidities included hypertension (47.2%) and dyslipidemia (20.6%). Most cases were endometrioid histology (82.8%) and low-grade tumors (85.8%). Tumor grade (p=0.010), myometrial invasion (pCONCLUSION

Tumor grade, myometrial invasion, and LVSI were all significantly associated with lymph node involvement. While p53 immunohistochemical stains show promise in predicting metastasis and has been associated with tumor aggressiveness, this should still be correlated with clinicopathological parameters to carry out a more accurate risk stratification of early-stage patients.

Therapeutics ; Survival Rate ; Risk Factors ; Recurrence ; Prognosis ; Pathology ; Endometrial Neoplasms ; Immunohistochemistry ; Tumor Suppressor Protein P53 ; Lymph Node Excision ; Risk Assessment

BACKGROUND

Early-stage endometrial cancer often presents with favorable survival rates, but high-risk factors, including TP53 mutations and high-grade serous pathology, can lead to recurrence and poor prognosis. The standard primary treatment for endometrial cancer is surgical staging, and lymph node metastases significantly impact adjuvant therapy decisions. The subgroup of p53-abnormal (p53abn) indicates the worst prognosis and potential benefits from adjuvant chemotherapy. Molecular classification, while recommended, faces practical challenges due to resource constraints.

OBJECTIVES

The study aimed to assess the incidence of p53 abnormal expression in clinical stage 1 endometrial cancer cases that underwent surgery at a government tertiary hospital, and assess its relationship with clinicopathologic factors and pelvic and paraaortic lymph node metastasis (LNM).

METHODS

A cross-sectional retrospective analysis was conducted on clinical early-stage endometrial cancer cases that underwent surgical primary treatment between January 2018 and December 2022. Patient records were reviewed to gather demographics, surgical information, and pathological evaluations. Preoperative clinical staging was determined through imaging, and surgical staging involved comprehensive lymphadenectomy. Immunohistochemistry studies for p53 were carried out on formalin-fixed paraffin-embedded tissue samples.

RESULTS

A total of 233 endometrial cancer cases were included. The mean age at diagnosis was 53.7 years. Common comorbidities included hypertension (47.2%) and dyslipidemia (20.6%). Most cases were endometrioid histology (82.8%) and low-grade tumors (85.8%). Tumor grade (p=0.010), myometrial invasion (pCONCLUSION

Tumor grade, myometrial invasion, and LVSI were all significantly associated with lymph node involvement. While p53 immunohistochemical stains show promise in predicting metastasis and has been associated with tumor aggressiveness, this should still be correlated with clinicopathological parameters to carry out a more accurate risk stratification of early-stage patients.

Therapeutics ; Survival Rate ; Risk Factors ; Recurrence ; Prognosis ; Pathology ; Endometrial Neoplasms ; Immunohistochemistry ; Tumor Suppressor Protein P53 ; Lymph Node Excision ; Risk Assessment

Objective To investigate the influence of comorbidities on the prognosis of patients with status epilepticus， to develop Improved Comorbidity Burden Index （ICBI） based on Comorbidity Burden Index （CBI）， and to analyze the practicality of ICBI in assessing nonconvulsive status epilepticus in western China.Methods A total of 396 patients with status epilepticus who were treated in Department of Neurology， Intensive Care Unit， and Emergency Department， West China Hospital， Sichuan University， from December 2016 to December 2022 were enrolled， and all patients met the latest diagnostic criteria for status epilepticus issued by the International League Against Epilepsy （2015 edition）. SPSS 22.0 was used to perform a statistical analysis， and a Logistic regression analysis was used to investigate the influencing factors for in-hospital death and poor prognosis （with a Glasgow Outcome Scale score of 1-3）. CBI score was modified into ICBI score， with the addition of three comorbidities （immune system disorder， thyroid dysfunction， and hypoproteinemia） and consolidation of overlapping items， and the total score was calculated with each comorbidity contributing 1 score. The MedCalc-generated receiver operating characteristic （ROC） curve was used to analyze predictive value， and the area under the ROC curve （AUC） was used to reflect the diagnostic value of ICBI scale.Results Among the 396 patients with status epilepticus included in the study， 43 （10.9%） died in hospital and 114 （28.8%） had a poor prognosis. Digestive system diseases， respiratory system diseases， kidney and urinary system diseases， electrolyte/acid-base imbalance， infection， and immune system disorders were risk factors for in-hospital death of patients with status epilepticus. Digestive system diseases， respiratory system diseases， kidney and urinary system diseases， electrolyte/acid-base imbalance， hypoglycemia/hyperglycemia， infection， coagulation and blood disorders， nervous system disease， cardiovascular diseases， musculoskeletal disorders， and immune system disorders were risk factors for poor prognosis in patients with status epilepticus. The ROC curve analysis showed that ICBI>3 had an AUC of 0.914 in predicting in-hospital death， with a specificity of 71.37% and a sensitivity of 97.67% （P<0.000 1）， and ICBI>3 had an AUC of 0.882 in predicting poor prognosis， with a specificity of 81.56% and a sensitivity of 79.82% （P<0.000 1）. There were 327 patients with convulsive status epilepticus， among whom 41 patients died， and ICBI>3 had an AUC of 0.915 in predicting in-hospital death （P<0.000 1）. There were 100 patients with a poor prognosis， and ICBI>3 had an AUC of 0.867 in predicting poor prognosis （P<0.000 1）.Conclusion The in-hospital mortality rate is 10.9% in patients with status epilepticus in Sichuan， China， and ICBI>3 has a certain value in predicting in-hospital death and poor prognosis in patients with status epilepticus. There is no significant difference in ICBI score between convulsive status epilepticus and nonconvulsive status epilepticus.
Prognosis

OBJECTIVES

The influence of weight change on the response to neoadjuvant chemotherapy (NAC) among adult Filipino patients with breast cancer remains unclear. Currently, there has been increasing evidence that weight gain during NAC is associated with increased recurrence risk and decreased survival. This study aimed to investigate this relationship and identify significant predictors of pathologic complete response (pCR), overall survival (OS) and disease-free survival (DFS).

METHODS

This is a retrospective study using data from 52 female patients who received NAC for stage II or III breast cancer and had complete records of weight before and after NAC. Significant predictors of pCR such as host factors and tumor characteristics and associations between weight change and pCR, OS and DFS were examined using univariate and multivariable logistic regression analyses.

RESULTS

The average weight of all patients before NAC was 57.0 kg while the average weight of all patients after NAC was 59.5 kg. The average BMI of all patients before NAC was 25.8 kg/m2. In total, 29 patients (55.8%) were classified in the overweight/obese (OW/OB) group, and the rest were classified in the normal weight/underweight (NW/UW) group. The pCR rate was 51.3% in the OW/OB group versus 48.7% in the NW/UW group (p = 0.11). Initial BMI was a significant factor for achieving pCR (hazard ratio, 3.85; 95% confidence interval [CI], 1.72-8.60, p = 0.001), suggesting that a higher initial BMI was associated with an increased likelihood of achieving pCR. Initial BMI was also an independent prognostic factor for OS (p = 0.0006) and DFS (p = 0.0005). On the other hand, no significant correlation was seen between pCR rates as well as OFS and DFS (p = 0.0551) among patients whose weight changed during the course of treatment.

CONCLUSION

These findings suggest that while initial weight may significantly predict pCR rates and affect DFS and OS, weight change during treatment may not be as influential. Further research is needed to validate these findings in more diverse and larger patient populations.

Human ; Breast Neoplasms ; Neoadjuvant Chemotherapy ; Neoadjuvant Therapy ; Pathologic Complete Response ; Prognostic Factors ; Prognosis

Objective To investigate the safety and efficacy of remote ischemic conditioning （RIC） in the treatment of patients with acute ischemic stroke undergoing mechanical thrombectomy. Methods This was a single-center randomized parallel-controlled clinical study. A total of 40 patients with anterior circulation large-vessel occlusive ischemic stroke who were admitted to Baoji High-Tech Hospital within 24 hours after onset and underwent emergency mechanical thrombectomy from July 2023 to July 2024 were enrolled and randomly assigned to the experimental group and the control group at a ratio of 1∶1. The patients in the experimental group received standardized RIC treatment （cuff pressure 200 mmHg）， while those in the control group received sham RIC intervention （cuff pressure 60 mmHg）， and the course of treatment was 7 days for both groups. The two groups were compared in terms of baseline information， safety assessment indicators （including hemorrhagic transformation， symptomatic intracranial hemorrhage， and adverse events）， and efficacy evaluation indicators [including NIHSS score， Barthel index， and mRS score after 7 days of treatment， as well as the proportion of patients with good prognosis （an mRS score of 0-2） and excellent prognosis （an mRS score of 0-1） at follow-up on day 90]. Results A total of 39 patients were finally included in the analysis， with 19 in the experimental group and 20 in the control group. At follow-up on day 90， 3 patients were lost to follow-up， and 18 patients in each group were included in the analysis. There were no significant differences between the two groups in all baseline data （P0.05） except sex （P=0.048）. The safety analysis showed that during hospitalization， there were no deaths in either group， and there were no significant differences in hemorrhagic transformation， symptomatic intracranial hemorrhage， and adverse events between the two groups （P0.05）. One patient in the control group and 2 patients in the experimental group died at follow-up on day 90， with no significant difference between the two groups（P0.999）. The efficacy analysis showed that after 7 days of treatment， there were no significant differences in NIHSS score， Barthel index， and mRS score between the two groups （P0.05）. At follow-up on day 90 after surgery， 10 patients in the experimental group and 9 patients in the control group had a good prognosis （55.6% vs 50.0%， P0.99）， and 10 patients in the experimental group and 6 patients in the control group had an excellent prognosis （55.6% vs 33.3%， P=0.315）. Conclusion RIC has good safety and efficacy in the treatment of patients with acute ischemic stroke after mechanical thrombectomy， with a tendency to improve 90-day functional prognosis.
Prognosis

INTRODUCTION: We aimed to compare the real-world data and our clinical experience with metallic stents (MSs) and conventional polymeric stents (PSs) in the management of both malignant and benign chronic ureteric obstruction (CUO), in terms of clinical outcomes and costs. METHODS: Clinical data from our institution, including outcomes for all ureteric stents inserted for long-term management of CUO from all causes from 2014 to 2017, were retrospectively reviewed and compared between the MS and PS episodes. RESULTS: A total of 247 stents were placed in 63 patients with CUO over the 4-year study period. Of these, 45 stents were MSs. There was no significant difference in all baseline characteristics between the MS and PS groups, except for the aetiology of obstructive cause. Mean indwelling stent duration was significantly greater for MS than for PS (228.6 ± 147.0 vs. 146.1 ± 66.0 days, P < 0.001), thereby leading to lower average number of stent changes per year in the MS group compared to the PS group (1.4 vs. 6.3 times, respectively). Despite the higher unit cost of MS compared to PS, there was no significant mean cost difference overall (cost per dwelling day SGD 7.82 ± SGD 10.44 vs. SGD 8.23 ± SGD 20.50, P = 0.888). CONCLUSION Resonance MS is a better option than PS to manage CUO from malignant and benign causes because its significantly longer indwelling time mitigates the higher unit cost of the stent. It potentially reduces the number of procedures and operations in patients. Thus, it should be considered for all patients with CUO requiring long-term ureteric drainage.
Humans ; Ureteral Obstruction/economics* ; Female ; Male ; Retrospective Studies ; Stents/economics* ; Middle Aged ; Aged ; Treatment Outcome ; Chronic Disease ; Ureter/surgery* ; Metals ; Adult ; Aged, 80 and over