1.Clinicopathological and molecular genetic heterogeneity of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young
Xiaoli SU ; Jiawen WU ; Pingling WANG ; Liwen HU ; Yupeng CHEN ; Caihong REN ; Fangling SONG ; Hangrui LIN ; Sheng ZHANG ; Xingfu WANG
Chinese Journal of Pathology 2025;54(11):1163-1171
Objective:To investigate the clinicopathological and molecular genetic characteristics of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY) and their prognostic values.Methods:A retrospective analysis was performed on 14 cases of diffuse gliomas with PLNTY features diagnosed at the First Affiliated Hospital of Fujian Medical University, Fuzhou, China from June 2020 to August 2024. Their clinicopathological characteristics were examined, and their molecular genetic and epigenetic features were assessed using next-generation sequencing (NGS) and methylation analysis. Factors influencing prognosis were also analyzed.Results:Among the 14 patients, there were 8 males and 6 females, aged 3-62 years, median 29 (9, 50) years. All cases were initially diagnosed as low-grade diffuse gliomas histologically but exhibited the histological and immunohistochemical features of PLNTY. At the molecular level, all cases showed molecular abnormalities involving the mitogen-activated protein kinase pathway, including 5 cases with FGFR3-TACC3 (F3T3) fusion, 3 cases with FGFR2 fusion, 5 cases with BRAF V600E mutation, and 1 case with FGFR1 mutation. Among them, TERT promoter mutations were frequently observed in tumors with F3T3 fusion (5/5), while NCOR2 in-frame insertion mutations were prominent in tumors with non-F3T3 fusions. Clinical follow-up showed recurrence in 3 cases, all of which had F3T3 fusion and concurrent TERT promoter mutations. Prognostic analysis confirmed that F3T3 fusion with concurrent TERT promoter mutation was associated with poor prognosis.Conclusions:Diffuse gliomas with PLNTY features exhibit heterogeneity in clinicopathology and molecular genetics, with FGFR3/FGFR2 fusions and BRAF/FGFR1 mutations as the most common molecular alteration. They often have concurrent F3T3 fusion and TERT promoter mutations, which are related to poor prognosis. The possibility of molecular glioblastoma should be considered for these tumors. It is thus recommended to perform genetic testing on diffuse gliomas with PLNTY features in order to facilitate integrated diagnosis and provide molecular evidence for accurate evaluation of prognoses.
2.Correlation between p53 immunohistochemistry and TP53 mutations in gliomas
Xuefang LIN ; Chengcong HU ; Pingling WANG ; Xiaoli SU ; Jingjing WU ; Saifan ZENG ; Sheng ZHANG ; Xingfu WANG
Chinese Journal of Pathology 2025;54(4):375-380
Objective:To evaluate the accuracy of p53 immunohistochemistry for predicting the mutational status of TP53 in gliomas.Methods:A retrospective study was conducted on 242 diffuse gliomas diagnosed at the Department of Pathology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, China from June 2022 to March 2023. All cases underwent next-generation sequencing (NGS) and p53 immunohistochemical staining. The best threshold in the percentage of p53 immunohistochemical expression was assessed as an alternative to testing for TP53 mutation.Results:Among the 242 diffuse gliomas (WHO grade 2-4), 94 cases had a TP53 mutation. The p53 immunohistochemistry results revealed a significantly increased probability of TP53 mutation when the p53 immunohistochemical positivity rate (based on strongly positive cell count) was ≥20% ( P<0.05). The sensitivity and specificity of p53 immunohistochemistry for predicting TP53 gene mutations were 75.6% and 90.4%, respectively. When p53 immunohistochemical stain was totally negative, the probability of TP53 mutation increased significantly, and the mutation ratio of TP53 gene was 6/17 in all negative cases. Conclusions:When the percentage of p53 positive cells (based on strongly positive cell count) in glioma is ≥20%, p53 immunohistochemistry can be used as a reliable alternative method for TP53 mutation detection. When p53 immunohistochemistry is completely negative, the mutation rate of TP53 gene is higher, and further gene sequencing is recommended to determine the mutation status.
3.Correlation between p53 immunohistochemistry and TP53 mutations in gliomas
Xuefang LIN ; Chengcong HU ; Pingling WANG ; Xiaoli SU ; Jingjing WU ; Saifan ZENG ; Sheng ZHANG ; Xingfu WANG
Chinese Journal of Pathology 2025;54(4):375-380
Objective:To evaluate the accuracy of p53 immunohistochemistry for predicting the mutational status of TP53 in gliomas.Methods:A retrospective study was conducted on 242 diffuse gliomas diagnosed at the Department of Pathology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, China from June 2022 to March 2023. All cases underwent next-generation sequencing (NGS) and p53 immunohistochemical staining. The best threshold in the percentage of p53 immunohistochemical expression was assessed as an alternative to testing for TP53 mutation.Results:Among the 242 diffuse gliomas (WHO grade 2-4), 94 cases had a TP53 mutation. The p53 immunohistochemistry results revealed a significantly increased probability of TP53 mutation when the p53 immunohistochemical positivity rate (based on strongly positive cell count) was ≥20% ( P<0.05). The sensitivity and specificity of p53 immunohistochemistry for predicting TP53 gene mutations were 75.6% and 90.4%, respectively. When p53 immunohistochemical stain was totally negative, the probability of TP53 mutation increased significantly, and the mutation ratio of TP53 gene was 6/17 in all negative cases. Conclusions:When the percentage of p53 positive cells (based on strongly positive cell count) in glioma is ≥20%, p53 immunohistochemistry can be used as a reliable alternative method for TP53 mutation detection. When p53 immunohistochemistry is completely negative, the mutation rate of TP53 gene is higher, and further gene sequencing is recommended to determine the mutation status.
4.Clinicopathological and molecular genetic heterogeneity of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young
Xiaoli SU ; Jiawen WU ; Pingling WANG ; Liwen HU ; Yupeng CHEN ; Caihong REN ; Fangling SONG ; Hangrui LIN ; Sheng ZHANG ; Xingfu WANG
Chinese Journal of Pathology 2025;54(11):1163-1171
Objective:To investigate the clinicopathological and molecular genetic characteristics of diffuse gliomas with the features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY) and their prognostic values.Methods:A retrospective analysis was performed on 14 cases of diffuse gliomas with PLNTY features diagnosed at the First Affiliated Hospital of Fujian Medical University, Fuzhou, China from June 2020 to August 2024. Their clinicopathological characteristics were examined, and their molecular genetic and epigenetic features were assessed using next-generation sequencing (NGS) and methylation analysis. Factors influencing prognosis were also analyzed.Results:Among the 14 patients, there were 8 males and 6 females, aged 3-62 years, median 29 (9, 50) years. All cases were initially diagnosed as low-grade diffuse gliomas histologically but exhibited the histological and immunohistochemical features of PLNTY. At the molecular level, all cases showed molecular abnormalities involving the mitogen-activated protein kinase pathway, including 5 cases with FGFR3-TACC3 (F3T3) fusion, 3 cases with FGFR2 fusion, 5 cases with BRAF V600E mutation, and 1 case with FGFR1 mutation. Among them, TERT promoter mutations were frequently observed in tumors with F3T3 fusion (5/5), while NCOR2 in-frame insertion mutations were prominent in tumors with non-F3T3 fusions. Clinical follow-up showed recurrence in 3 cases, all of which had F3T3 fusion and concurrent TERT promoter mutations. Prognostic analysis confirmed that F3T3 fusion with concurrent TERT promoter mutation was associated with poor prognosis.Conclusions:Diffuse gliomas with PLNTY features exhibit heterogeneity in clinicopathology and molecular genetics, with FGFR3/FGFR2 fusions and BRAF/FGFR1 mutations as the most common molecular alteration. They often have concurrent F3T3 fusion and TERT promoter mutations, which are related to poor prognosis. The possibility of molecular glioblastoma should be considered for these tumors. It is thus recommended to perform genetic testing on diffuse gliomas with PLNTY features in order to facilitate integrated diagnosis and provide molecular evidence for accurate evaluation of prognoses.
5.Application of machine vision in fractionated radiotherapy
Xiaolin CHEN ; Yangchao XIE ; Xingfu LIN ; Fenpen HUANG ; Tingying CHEN ; Wanquan CHEN ; Shaofeng WANG
Chinese Journal of Radiological Medicine and Protection 2024;44(3):202-206
Objective:To monitor intra-fractional set-up errors in tumor radiotherapy using a real-time intelligent capture system for precision displacement.Methods:A simulated radiotherapy environment was created in both the laboratory and the treatment room. A three-axis ( xyz) displacement platform (LD60-LM) and dial gauges were used as displacement measurement tools. Moreover, a real-time intelligent capture system for precision displacement was developed for displacement monitoring. With 23 patients treated with radiotherapy enrolled in this study, the above system was employed to monitor their intra-fractional set-up errors in fractionated radiotherapy. Descriptive analyses were conducted on the deviations between the data captured by cameras and the actual displacement, obtaining the mean values and standard deviation. Results:The monitoring calibration data from the laboratory revealed displacement differences of ≤ 0.5 mm within 20 mm and a maximum displacement difference of 1.47 mm for 50 mm. In contrast, the calibration result from the treatment room exhibited deviations of ± 0.2 mm on the y- z axes, as displayed by both the left and right cameras, and ± 0.31 mm on the x- z axes, as displayed by the middle camera. During 37 radiotherapy sessions in 23 patients, the monitoring result from the middle camera revealed five deviations exceeding the threshold of 5 mm, with the maximum deviation duration and displacement of 57.2 s and 9.24 mm, respectively. Conclusions:The real-time intelligent capture system for precision displacement based on machine vision can achieve real-time monitoring of set-up errors during tumor radiotherapy. Nevertheless, further improvements and service testing are necessary for this system.
6.Primary skull base chondrosarcoma: a clinicopathological analysis
Yu ZHANG ; Xiangna CHEN ; Caihong REN ; Changzhen JIANG ; Yupeng CHEN ; Na LIN ; Mi WANG ; Shanshan CAI ; Guoping LI ; Sheng ZHANG ; Xingfu WANG
Chinese Journal of Pathology 2020;49(3):239-243
Objective:To investigate the clinicopathological features, immunophenotype, molecular characteristics and differential diagnosis of primary skull base chondrosarcoma.Methods:Nine cases of primary skull base chondrosarcoma were collected at the First Affiliated Hospital of Fujian Medical University, from January 2006 to June 2019, reviewed for the clinical and radiologic data and morphologic features, immunophenotype and molecular characteristics.Results:Among all the 9 cases, six were male, three were frmale, with average age 47 years, and median age 47 years; five cases were WHO gradeⅠ, and four were WHO grade Ⅱ. Microscopically, the tumor showed lobulated growth pattern with low-medium cellularity within a chondroid or mucoid background. The tumor cells showed mild-moderate atypia, with binucleated forms, and mitosis was rare or occasional. Immunohistochemistry (IHC) showed tumor cells were positive for S-100 protein, vimentin, SOX-9 and D2-40, and negative for Brachyury, CK, EMA and CK8/18; the Ki-67 index was low (1% to 5%). Molecular analysis showed IDH1 R132C mutation in four cases.Conclusions:Skull base chondrosarcoma is a rare cartilaginous malignant tumor with a good prognosis. Its characteristic morphologies, combined with IHC and molecular detection are helpful for the differential diagnosis.
7.Clinicopathologic analysis of a series of intraventricular meningioma
Li ZHANG ; Weiwei FU ; Lin LIN ; Xiyue WU ; Long WU ; Shuchao ZHAO ; Haiyang FU ; Danrong XU ; Shanshan CAI ; Sheng ZHANG ; Xueyong LIU ; Xingfu WANG
Chinese Journal of Pathology 2019;48(2):137-140
8.A structural MRI study on aggressive behavior in patients with schizophrenia
Lin TIAN ; Shuai WANG ; Linlin QIU ; Xiangshuai FU ; Haisheng LIU ; Xingfu ZHAO ; Zhenhe ZHOU
Chinese Journal of Nervous and Mental Diseases 2017;43(2):103-109
Objective To explore the gray matter changes in aggressive patients with schizophrenia,and the relationship between the gray matter and aggression in patients.Methods Eighteen aggressive patients with schizophrenia (SZ1),18 age-and gender-matched un-aggressive patients with schizophrenia (SZ2) and 18 normal controls (NC) were enrolled in the study.Then a 3.0 T magnetic resonance imaging (MRI) scan was conducted for each participant.The voxel-based morphometry (VBM) approach and the Chinese version of Buss & Perry aggression questionnaire (B&P) were used to explore imaging data and to assess the aggression,respectively.Results Compared with NC,patients with schizophrenia showed changes in gray matter volume (GMV) in the frontal,temporal and the occipital lobes (P<0.05,AlphaSim corrected).Compared with SZ2,SZ1 showed increased GMV in the right supramarginal gyrus,right postcentral gyms,bilateral insula and orbito-frontal gyri (P<0.05,AlphaSim corrected).The GMV of the right insula,right postcentral gyms and right supramarginal grus were positively associated with B&P scores in patients with schizophrenia (P<0.01,AlphaSim corrected),respectively.Conclusions These preliminary findings support that the aggression in schizophrenia is associated with GMV changes of brain regions in patients with schizophrenia.The right postcentral gyrus,the right insula and the right supramarginal gyrus may be involved in the neural mechanism of aggression in schizophrenia.
9. Solitary fibrous tumor/hemangiopericytoma of central nervous system: a clinicopathologic analysis of 71 cases
Xiaoling LI ; Weiwei FU ; Sheng ZHANG ; Dayang CHEN ; Yupeng CHEN ; Jie WU ; Xueyong LIU ; Guoping LI ; Shengming LIN ; Sheng LUO ; Shanshan CAI ; Wei GUO ; Xingfu WANG
Chinese Journal of Pathology 2017;46(7):465-470
Objective:
As solitary fibrous tumor (SFT) and hemangiopericytoma (HPC) share the same molecular genetics features, the 2016 WHO classification of central nervous system (CNS) tumors had created the combined term SFT/HPC and assigns three grades. This study aims to investigate the clinicopathologic characteristics, diagnosis, differential diagnosis and prognosis of CNS SFT/HPC.
Methods:
Seventy-one cases of CNS SFT and HPC were retrospectively reclassified and studied. Histopathological, immunohistochemical and imaging features were analyzed. The follow-up data were analyzed.
Results:
There were 37 male and 34 female patients. The median age was 48 years (range, 3-77 years). Twelve cases (17%) were WHO grade Ⅰ, 26 (37%) were WHO grade Ⅱ and 33 (46%) were WHO grade Ⅲ. Microscopically the tumor could show traditional SFT phenotype, HPC phenotype or mixed phenotype. Immunochemically, 97%(69/71) were positive for STAT6, with 96%(66/69)showing diffuse strong staining. Approximately 90% were diffusely positive for bcl-2, CD99 and vimentin. The expression rate of CD34 decreased with increasing tumor grade, and the mean expression rate was 78%. SSTR2a was variably expressed in 10% (7/71) of cases including one case showing strong cytoplasmic staining. A few cases expressed EMA, CD57 and S-100 focally. The Ki-67 index ranged from 1% to 50%. Thirty four patients were followed up for 8-130 months; 12 patients(35%)had recurrences, and two (6%) had liver metastases.
Conclusions
CNS SFT/HPC is relatively uncommon. There was significant morphological overlap or transition between different grades. STAT6 is a specific marker for the diagnosis of this tumor. Surgical resection is the preferred treatment. WHO grade Ⅱ and Ⅲ SFT/HPC show rates of local recurrence and systemic metastasis, with liver being the most common site of extracranial metastasis.

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