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.The effect of vitrectomy in the treatment of different types of chorioretinal coloboma with retinal detachment
Jiao DU ; Xiaoli LI ; Zun ZHAO ; Dongdong WANG ; Handong DAN ; Pingling SHI ; Zixu HUANG ; Suhan WANG ; Qiongqiong YUAN ; Zongming SONG
Chinese Journal of Ocular Fundus Diseases 2023;39(12):969-973
Objective:To observe the efficacy of pars plana vitrectomy (PPV) in the treatment of different types of chorioretinal coloboma with retinal detachment (RD).Methods:A single-center, retrospective clinical study. From April 2021 to March 2023, 24 eyes of 23 patients who were diagnosed as chorioretinal coloboma with RD in Henan Provincial Eye Hospital were included in this study. There were 11 males with 12 eyes and 12 females with 12 eyes. The mean age was (33.3±13.7) years old. Best corrected visual acuity (BCVA), spectral domain optical coherence tomography were performed. The BCVA examination was performed using a international standard logarithmic visual acuity chart, which was converted into logarithm of the minimum angle of resolution (logMAR) visual acuity during statistics. According to the types of chorioretinal coloboma, the affected eyes were divided into the coloboma involved the optic disc group and the coloboma not involved the optic disc group, with 15 eyes and 9 eyes. According to whether the RD containing the coloboma area, the affected eyes were divided into RD containing the coloboma area group and the RD not containing the coloboma area group, with 15 eyes and 9 eyes. All eyes underwent standard pars plana three-channel 25G PPV, retinal laser photocoagulation combined with silicone oil tamponade. The follow-up time after surgery was (19.5±16.3) months. The last follow-up was the time point for efficacy determination. The retinal reattachment, BCVA recovery and postoperative complications were observed. Paired t-test or t test was performed for comparison of quantitative data. Fisher's exact test was performed for comparison of qualitative data. Results:At the last follow-up, retinal reattachment was achieved in 20 eyes (83.3%, 20/24). The logMAR BCVA of the coloboma involved the optic disc group before and after surgery were 1.85±0.62 and 1.71±0.71, the difference was no significant ( t=0.845 , P=0.412). The logMAR BCVA of the coloboma not involved the optic disc group before and after surgery were 1.75±0.45 and 0.84±0.26, the difference was statistically significant ( t=6.153 , P<0.001). The improvement of BCVA in the coloboma not involved the optic disc group was significantly higher than that in the coloboma involved the optic disc group after surgery, with statistically significant differences ( t=3.024 , P=0.006). There was no significant difference in the retinal reattachment rate between the two groups ( P=0.615). There was no significant difference in the retinal reattachment rate between the RD containing the coloboma area group and the RD not containing the coloboma area group ( P=0.259). Postoperative complications included elevated intraocular pressure in five eyes, cataract progression in ten eyes, recurrent RD in two eyes, bullous keratopathy in one eye and band-shaped keratopathy in one eye. Conclusion:PPV combined with silicone oil tamponade is safe and effective in the treatment of chorioretinal coloboma with RD, the improvement of visual acuity in the coloboma not involved the optic disc group is better than that in the coloboma involved the optic disc group after surgery.
6.Steep pulse changes the expression of tissue factor in ovarian tumor.
Cong LI ; Li'na HU ; Pingling WANG ; XiaoJing DONG ; Yunshan ZHU ; Chenguo YAO ; Yan MI
Journal of Biomedical Engineering 2008;25(2):402-406
As a micro-wound and target-aimed technology without special limitation, Electric Pulses have been widely researched in tumor treatment and the effects have been demonstrated by a series of experiments, yet the mechanism has not been explained clearly. In this experiment, energy controllable steep pulse (ECSP) was used to treat nude mice bearing human ovarian tumor, and the result was compared with that of the control group. The expression of an important coagulant factor-tissue factor (TF) was analyzed, as TF was also a tumor indicator of invasion and metastasis, the result may indicate the relationship among ECSP, thrombosis and tumor invasion. In this study, to shed light on the mechanism of tumor treatment in electrical fields, nude mice bearing ovarian tumors were randomly divided into the treated group and the untreated group. We treated the former group and took out the tumor instantly. The thrombosis and necrosis of ovarian tumor were observed under microscope. The expression of TF was analyzed by SP immunohistochemistry and RT-PCR. Lower level of TF expression was noticed in the tumor tissue treated by ECSP, and more apparent thrombosis was also seen in this group. The results make it clear that ECSP can accelerate thrombosis and consume coagulant factors such as TF, and that low expression of TF in tumor tissue can cut out the signal paths of tumor invasion. So it is suggested that ECSP may restrain tumor invasion and metastasis by modulating thrombosis.
Animals
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Electric Stimulation Therapy
;
methods
;
Electromagnetic Fields
;
Electroporation
;
methods
;
Female
;
Humans
;
Mice
;
Mice, Nude
;
Neoplasm Transplantation
;
Ovarian Neoplasms
;
metabolism
;
therapy
;
RNA, Messenger
;
biosynthesis
;
genetics
;
Random Allocation
;
Thromboplastin
;
biosynthesis
;
genetics
7.Effect of silencing mdrl gene by RNA interference with adriamycin on proliferation of SKOV_3/ADM
Journal of Chongqing Medical University 1986;0(02):-
Objective:To investigate the effect of RNA interference targeting mdrl gene with ADM on ovarian cancer resistant strain SKOV 3/ADM.Methods:The expression of mdrlmRNA after transfected pshRNA-mdrl was detected by RT-PCR;MTT test and clone forming test were applied to measure the inhibition combined with adriamycin on proliferation of SKOV 3/ADM strain.Results:These pshRNA-mdrls inhibited the expression of mdrlmRNA and proliferation of SKOV 3/ADM obviously when combined with adriamycin.Conclusion:The short hairpin RNA recombinant plasmid targeting mdrl gene combined with adriamycin inhibits the proliferation of SKOV 3/ADM and increases the sensitivity to chemotherapy.

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