Objective:To investigate the clinicopathological characteristics and differential diagnosis of DICER1-mutant primary intracranial sarcoma.Methods:Five cases of DICER1-mutant primary intracranial sarcoma at Sanbo Brain Hospital, Capital Medical University, Beijing, China during May 2013 to November 2024 were collected. The clinical and imaging data were retrieved. Histological evaluation, immunohistochemical staining and next generation sequencing were performed. Additionally, a literature review was conducted.Results:All five DICER1-mutant primary intracranial sarcomas were located in the supratentorial region, with one case involving the basal ganglia. There were two males and three females. The median age at diagnosis was 25 (14.0, 30.5) years. Morphologically, they were characterized by high-grade spindle cell sarcoma, with brisk mitotic activity and cytoplasmic eosinophilic globules. Myxoid degeneration, necrosis, and invasion into surrounding brain tissue were observed in some cases. The tumor cells showed diffuse staining of vimentin and variable expression of myogenic marker (desmin), with or without focal MyoD1 and/or Myogenin expression. Four tumors exhibited diffuse, strong expression of TLE1 and p53, while only three tumors showed loss of ATRX (nuclear) expression. Two cases showed mosaic loss of H3K27me3 expression in neoplastic cells. The Ki-67 proliferation index was high (40%-80%). Various neuronal markers, such as synaptophysin, NF, SOX2 and MAP2, were expressed in all tumor samples. Genetically, all tumors samples harbored biallelic abnormalities of DICER1. One was a hotspot missense mutation in the RNase Ⅲb domain within exon 25 on one allele (p.E1813 or p.D1810), while the other allele had mutations including a germline mutation in one case, a somatic mutation in two cases, and a copy number deletion in two cases. In addition, these sarcomas showed alterations in TP53 (4/5), ATRX (3/5), and the genes of the mitogen-activated protein kinase pathway (3/5). Finally, all five cases were diagnosed as DICER1-mutant primary intracranial sarcoma. All patients underwent craniotomy that led to complete tumor resection. Three patients received adjuvant radiotherapy and chemotherapy, with progression-free survival time of 28, 48, and 50 months, respectively. Patient 2 succumbed to the tumor after 3 months post-surgery due to rapid progression and tumor dissemination. Patient 5 was lost to follow-up 3 months after the surgery.Conclusions:DICER1-mutant primary intracranial sarcoma is a newly defined tumor entity in the fifth edition of the World Health Organization Classification of Central Nervous System Tumors, and commonly occurs in children and young adults. High-grade malignant spindle cells are their typical morphological feature. Eosinophilic cytoplasmic globules and myogenic differentiation can help establish the diagnosis. This study suggests that DICER1-mutant primary intracranial sarcomas exhibit immunophenotypic neuronal differentiation. Rendering the diagnosis of DICER1-mutant primary intracranial sarcoma largely relies on detecting DICER1 pathogenic alterations or DNA methylation profiling.

Objective:To investigate the clinicopathological characteristics and differential diagnosis of DICER1-mutant primary intracranial sarcoma.Methods:Five cases of DICER1-mutant primary intracranial sarcoma at Sanbo Brain Hospital, Capital Medical University, Beijing, China during May 2013 to November 2024 were collected. The clinical and imaging data were retrieved. Histological evaluation, immunohistochemical staining and next generation sequencing were performed. Additionally, a literature review was conducted.Results:All five DICER1-mutant primary intracranial sarcomas were located in the supratentorial region, with one case involving the basal ganglia. There were two males and three females. The median age at diagnosis was 25 (14.0, 30.5) years. Morphologically, they were characterized by high-grade spindle cell sarcoma, with brisk mitotic activity and cytoplasmic eosinophilic globules. Myxoid degeneration, necrosis, and invasion into surrounding brain tissue were observed in some cases. The tumor cells showed diffuse staining of vimentin and variable expression of myogenic marker (desmin), with or without focal MyoD1 and/or Myogenin expression. Four tumors exhibited diffuse, strong expression of TLE1 and p53, while only three tumors showed loss of ATRX (nuclear) expression. Two cases showed mosaic loss of H3K27me3 expression in neoplastic cells. The Ki-67 proliferation index was high (40%-80%). Various neuronal markers, such as synaptophysin, NF, SOX2 and MAP2, were expressed in all tumor samples. Genetically, all tumors samples harbored biallelic abnormalities of DICER1. One was a hotspot missense mutation in the RNase Ⅲb domain within exon 25 on one allele (p.E1813 or p.D1810), while the other allele had mutations including a germline mutation in one case, a somatic mutation in two cases, and a copy number deletion in two cases. In addition, these sarcomas showed alterations in TP53 (4/5), ATRX (3/5), and the genes of the mitogen-activated protein kinase pathway (3/5). Finally, all five cases were diagnosed as DICER1-mutant primary intracranial sarcoma. All patients underwent craniotomy that led to complete tumor resection. Three patients received adjuvant radiotherapy and chemotherapy, with progression-free survival time of 28, 48, and 50 months, respectively. Patient 2 succumbed to the tumor after 3 months post-surgery due to rapid progression and tumor dissemination. Patient 5 was lost to follow-up 3 months after the surgery.Conclusions:DICER1-mutant primary intracranial sarcoma is a newly defined tumor entity in the fifth edition of the World Health Organization Classification of Central Nervous System Tumors, and commonly occurs in children and young adults. High-grade malignant spindle cells are their typical morphological feature. Eosinophilic cytoplasmic globules and myogenic differentiation can help establish the diagnosis. This study suggests that DICER1-mutant primary intracranial sarcomas exhibit immunophenotypic neuronal differentiation. Rendering the diagnosis of DICER1-mutant primary intracranial sarcoma largely relies on detecting DICER1 pathogenic alterations or DNA methylation profiling.

【Objective】 To evaluate the effectiveness of Roche Cobas s 201 in detecting HBV by analyzing its blood nucleic acid testing (NAT) results. 【Methods】 The results were grouped according to the enzyme-linked immunosorbent assay (ELISA) and NAT minipool test (MP), NAT individual test (ID) and repeated NAT ID test (rID), and categorized into 4 groups as ELISA+ /NAT(ID)+ , ELISA+ /NAT(rID)+ , ELISA-/NAT(ID)+ and ELISA-/NAT(rID)+ . The data were statistically analyzed to explore whether there was a difference in the detection of reactive results by repeated NAT, and the correlation between cycle threshold (Ct) and nucleic acid detection rate for NAT-reactive samples with different ELISA results. The true infection status of blood donors was further analyzed by supplementary tests, including NAT systems and chemiluminescence serological marker assays using other methodologies. 【Results】 A total of 1 691 groups of 766 293 blood donor samples were HBV NAT(MP)+ , of which 1 418 groups(83.86%) were detected with reactive results (1 418 HBV NAT+ , 7 090 NAT-), and there were still 273 groups (16.14%) that remained undetected after repeated testing[a total of 1 638 NAT-, Ct(MP): 39.49±3.62]. Of the HBV NAT+ , 881(62.13%) were ELISA+ /NAT(ID)+ , 19(1.34%) were ELISA+ /NAT(rID)+ , 451(31.81%) were ELISA-/NAT(ID)+ , and 67(4.72%) were ELISA-/NAT(rID)+ . For samples with different ELISA results, difference was found in the detection of HBV by repeated NAT (P<0.05). There was no difference in Ct(ID) values between groups ELISA+ /NAT(rID)+ and ELISA-/ NAT(ID)+ , and groups ELISA+ /NAT(rID)+ and ELISA-/ NAT(rID)+ (P>0.05), but there were significant differences between other groups compared pairwise (P<0.05). Supplementary tests were performed on 228 ELISA-/ NAT(MP)+ (ID)- samples, 56 (24.56%) were reactive by chemiluminescent detection of HBsAg+ and 7 (3.07%) by other NAT systems. Among the remaining 221 NAT- samples/donors (96.93%), 53 (23.98%) HBsAg+ donors were likely to have chronic infection, 40 (18.10%) anti-HBe+ and/or anti-HBc+ donors might have previous infections, and the remaining 128 (57.92%) donors who were non-reactive were NAT (MP) pseudo-reactive, with significant differences in anti-HBs levels \'between groups (P<0.05). 【Conclusion】 Repeated NAT has differential detection of donor samples with different reactivity categories or different serologic results, especially within a certain interval, and repeated NAT for ELISA- samples can significantly improve the detection rate. Ct values can assist in assessing the stability and accuracy of the NAT system. For ELISA-/NAT(MP)+ (ID)- donors, the combination of other highly sensitive assays can reduce the risk of viral residuals and safeguard clinical blood safety.

Objective:To analyze the situation of hepatitis B enzyme immunoassay-positive but nucleic acid negative infection (HBsAg ELISA(+ )/HBV-DNA(-)) among unpaid blood donors in Zhejiang Blood Center, and to explore the causes of inconsistency between enzyme immunoassay and nucleic acid result.Methods:A single nucleic acid test was performed on blood donors whose routine blood screening result were HBsAg-ELISA(+ )/HBV-DNA(-), and the test result of such blood donors were analyzed.Results:A total of 205 HBsAg-ELISA(+ )/HBV-DNA(-) samples were screened from 114017 blood donors from May to November, 2022. The proportion of male blood donors (0.14%) were significantly lower than that of the female blood donors (0.24%)( χ2= 14.761, P<0.005); the proportion of the first blood donor (0.32%) was significantly higher than that of the second blood donor (0.09%) ( χ2 = 78.781, P<0.005); the difference between different education levels is statistically significant ( χ2 =47.753, P<0.005). After single-person nucleic acid re-detection, the re-detection rate of nucleic acid in ELISA double-reagent positive samples was higher than that in single-reagent positive samples ( χ2=94.378, P<0.005); there was no significant difference between ELISA reagent 1 and reagent 2 in the detection rate of nucleic acid ( χ2 =0.163, P>0.005). There was no significant difference in the positive rate of secondary nucleic acid detection between the two nucleic acid detection systems ( χ2=0.626, P>0.005). Serological supplementary test showed that 11 HBV-DNA(+ ) samples showed two serological combination patterns after chemiluminescence detection, namely HBsAg(+ )/HBeAb(+ ) and HBeAb(+ ), most of which were HBsAg(+ )/HBeAb (+ ), a total of 10 cases, accounting for 90.91%, and only one case was HBeAb (+ ), accounting for 9.09%. The quantitative result of HBsAg showed that most of them were at low HBsAg level. Conclusions:After re-detection by single nucleic acid detection method, HBsAg-ELISA(+ )/HBV-DNA(-) samples of blood donors do have a certain proportion of HBV-DNA(+ ), but most of the samples were still HBV-DNA (-), additional experiments on HBV serological markers and HBV-DNA are needed to determine their true infection status and clarify the reasons for the inconsistency between enzyme immunoassay and nucleic acid test result. In addition, nucleic acid and HBsAg detection reagents with high sensitivity and specificity should be selected as far as possible in blood donor screening to ensure the accuracy of result.

Objective:To investigate the differential diagnostic value of intravoxel incoherent motion diffusion-weighted imaging (IVIM-DWI) combined with serum indicators for prostate cancer.Methods:We recruited 97 patients with prostate diseases who received treatment in Zhuji People's Hospital from March 2018 to September 2020 for this study. Patients with prostate cancer were included in the study group ( n = 46) and patients with benign prostatic hyperplasia in the control group ( n = 51). All patients were subject to IVIM-DWI and serum early prostate cancer antigen-2 level detection alone or in combination. The sensitivity, specificity, accuracy, and diagnostic efficacy of IVIM-DWI and serum early prostate cancer antigen-2 level detection alone or in combination were compared between the two groups. Results:D and f values in the study group were (0.50 ± 0.14) × 10 -3 mm 2/s and (0.35 ± 0.11), respectively, which were significantly lower than those in the control group [(0.71 ± 0.12) × 10 -3 mm 2/s, (0.59 ± 0.08), t = 7.95, 12.37, both P < 0.001]. D* value and serum early prostate cancer antigen-2 level in the study group were (6.24 ± 1.90) × 10 -3 mm 2/s and (62.5 ± 18.3) μg/L, which were significantly higher than those in the control group [(4.08 ± 1.34) × 10 -3 mm 2/s, (17.3 ± 6.8) μg/L, t = -6.52, -16.43, both P < 0.001]. The overall detection rate, sensitivity, specificity, and accuracy of IVIM-DWI combined with serum early prostate cancer antigen-2 level detection for prostate cancer were 53.6% (52/97), 97.8% (45/46), 74.5% (38/51), and 85.6% (83/97), respectively. A receiver operating characteristic curve analysis showed that the sensitivity of IVIM-DWI combined with serum indicators in the diagnosis of prostate cancer and the area under the curve were greater than those produced by IVIM-DWI and serum early prostate cancer antigen-2 level detection alone (both P < 0.05). Conclusion:IVIM-DWI combined with serum early prostate cancer antigen-2 level detection has a higher sensitivity in the diagnosis of prostate cancer than monotherapy. The combined therapy provides a new perspective for the differential diagnosis of prostate cancer and has a certain clinical value.

Background and objective BIM gene is a member of the BCL-2 family, is involved in cell death. The aim of this study is to explore the relationship between BIM gene polymorphism and therapeutic efficacy in the retreatment advanced non-small cell lung cancer (NSCLC) with tyrosine kinase inhibitor (EGFR-TKI). Methods In the study, there were 123 patients who were diagnosed with advanced NSCLC in Zhejiang Province Cancer Hospital bewteen January 2009 to October 2012, all of who were received gefitinib and erlotinib therapy after failure to chemotherapy. We detected the genotype of peripheral blood leukocytes of patients with BIM gene polymorphism though polymerase chain reaction (PCR). Statistical analysis was performed by SPSS version 13.0. Results On the disease control rates, BIM gene with no polymorphism type was slightly better trend than polymorphism types in disease control rate DCR (75.5% vs 57.1%, χ2=2.931, P=0.087). Univariate analysis the median PFS, women were longer than men (6.9 months vs 4.5 months, χ2 =7.077, P=0.008). Non-smokers were longer than smokers (8.0 months vs 2.5 months, χ2 =15.277, P<0.001). Adenocarcinoma were longer than others pathological type (7.0 months vs 2.0 months, χ2 =14.978, P<0.001). The median PFS in BIM gene with no polymorphism type were longer than with polymorphism type (6.0 months vs 3.5 months, χ2=7.035, P=0.008). Multi-factor analysis showed that smoking, pathological type, the BIM gene polymorphism were the independent prognostic factors for PFS. Conclusion The patients with the BIM gene no polymorphism have longer the median progression-free time than the polymorphism types in retreatment advanced non-small cell lung cancer patients with tyrosine kinase inhibitor.