Glioma is the most common primary malignant tumor of the central nervous system in adults. Despite the standard treatment of surgery combined with radiotherapy and chemotherapy, the prognosis for high-grade glioma patients remains poor, highlighting the urgent need to further explore its pathogenesis and develop new therapeutic strategies. This article reviews the research progress in the field of glioma in China in 2024, covering tumorigenesis mechanisms, tumor immune microenvironment composition, advances in imaging techniques and novel imaging agents, improvements in surgical approaches, mechanisms of radio- and chemoresistance, and explorations of new therapeutic modalities. These studies provide a solid theoretical foundation for advancing clinical diagnosis and treatment of gliomas and may offer new opportunities to improve patient outcomes.

Salivary gland tumor is one of the most common tumors in oral and maxillofacial regions.The diagnosis and treatment of salivary gland tumors had been a clinical characteristic project in Peking University School and Hospital of Stomatology since long time ago.Here we introduced the research pro-gress in diagnosis and treatment of salivary gland tumors during the past 10 years.Among 7 190 cases of salivary gland tumors treated in this institution,4 654 cases(64.7％)were benign,and 2 536(35.3％)were malignant,with benign:malignant ratio of 1.84∶1.Parotid was the most common loca-tion,followed by minor salivary gland and submandibular gland,while sublingular gland tumor was sel-dom seen.The proportion of minor salivary gland tumor was relatively high.Among 1 874 cases with pri-mary malignant tumors,the cases with T3 and stage Ⅲ accounted for only 9.6％and 10.3％,respec-tively,which indicated that there was shortcoming in the T classification and clinical stage formulated by Union for International Cancer Control(UICC),and further revision was required.The 5,10,and 15 year survival rates of 1 637 cases with postoperative follow-up were 93.1％,87.2％and 79.3％,respec-tively,which were much higher than those we reported 30 years ago.The improvement of treatment re-sults was related to more widely used combined treatment with surgery and postoperative radiotherapy,and the increase in patients with early stage.Adenoid cystic carcinoma was the malignant tumor with high rate of distant metastasis.The 5 and 10 year survival rates of the patients with pulmonary metastasis were 76.2％and 51.8％,respectively,which indicated that the pulmonary metastatic carcinomas developed slowly.Recurrent rate of carcinoma ex pleomorphic adenoma was 46.7％after single treatment of sur-gery,while it decreased to 27.5％after combined theraphy with surgery and radiotherapy,indicating that postoperative radiotheraphy could reduce the recurrent rate effectively.The normal myoepithelial cells had the inhibiting role in the invasion and metastasis of carcinoma ex pleomorphic adenoma.The evaluation of integrity of myoepithelial cells surrounding the tumor mass is helpful to understand the invasiveness of the tumors.The new surgical modalities such as extracapsular resection and partial sialoadenectomy were used in treatment of benign tumors of parotid gland and submandibular gland with advantages of decreased tissue damage and preservation of glandular function.Application of digital surgical techniques such as mixed reality combined with surgical navigation and real-time three-dimensional holograms in the surgical treatment of parotid gland tumors showed the benefits of more safety and precision,and less tissue da-mage.

Background/Aims: Total proctocolectomy with ileal pouch-anal anastomosis (IPAA) is widely accepted as a radical surgery for refractory ulcerative colitis (UC). Definite results on the appropriate pouch length for an evaluation of the risk-to-benefit ratio regarding technical complications and long-term quality of life (QOL) are still scarce. Methods: Data on UC patients who underwent IPAA from 2008 to 2022 in four well-established pouch centers affiliated to China UC Pouch Center Union were collected. Results: A total of 208 patients with a median follow-up time of 6.0 years (interquartile range, 2.3 to 9.0 years) were enrolled. The median lengths of the patients’ short and long pouches were 14.0 cm (interquartile range, 14.0 to 15.0 cm) and 22.0 cm (interquartile range, 20.0 to 24.0 cm), respectively. Patients with a short J pouch configuration were less likely to achieve significantly improved long-term QOL (p=0.015) and were prone to develop late postoperative complications (p=0.042), such as increased defecation frequency (p=0.003) and pouchitis (p=0.035). A short ileal pouch was an independent risk factor for the development of late postoperative complications (odds ratio, 3.100; 95% confidence interval, 1.519 to 6.329; p=0.002) and impaired longterm QOL improvement (odds ratio, 2.221; 95% confidence interval, 1.218 to 4.050, p=0.009). Conclusions The length of the J pouch was associated with the improvement in long-term QOL and the development of late post-IPAA complications. A long J pouch configuration could be a considerable surgical option for pouch construction.

Objective:To determine the distribution of chromosomes and breakpoint regions in the male carriers of chromosomal balanced translocation, and to explore the influence of breakpoint regions on spermatogenesis.Methods:A total of 87 male patients who underwent G-banding karyotype analysis and were diagnosed as translocation carriers in the Department of Central Laboratory of Women and Children's Hospital, School of Medicine, Xiamen University from January 2015 to December 2021, were included in a retrospective study. The clinical data and testing result of semen analysis and sperm morphology were collected and combined with the literature for comprehensive analysis.Results:Spermatogenesis dysfunction was discovered in 37 of 87 (42.53%) male translocation carriers. The frequency of translocation varied from chromosome to chromosome, its influence on spermatogenesis was also different. Chromosome 1 occurred 16 times, but chromosome Y and 18 occurred only one time. Spermatogenesis dysfunction was observed in 4 cases. The 4 cases showed sex chromosomes translocation and complex chromosome rearrangement. A total of 122 breakpoint regions were identified. Among them, 14 chromosomal bands occurred 3 or more times. Different breakpoint regions had a different influence on the sperm quality. The carriers of Xq28 breakpoint were azoospermatism. Spermatogenesis dysfunction occurred in 3 of 4 carriers involving band 19q13.Conclusion:The results indicate genetic heterogeneity on spermatogenesis in the male carriers of chromosomal balanced translocation. Clinical manifestations range from normal to oligozoospermia, asthenozoospermia or even azoospermia. Chromosome 1 is most frequently involved. The translocation of Xq28 has the most serious influence on spermatogenesis. All these carriers are diagnosed with azoospermia.

Objective:To determine the distribution of chromosomes and breakpoint regions in the male carriers of chromosomal balanced translocation, and to explore the influence of breakpoint regions on spermatogenesis.Methods:A total of 87 male patients who underwent G-banding karyotype analysis and were diagnosed as translocation carriers in the Department of Central Laboratory of Women and Children's Hospital, School of Medicine, Xiamen University from January 2015 to December 2021, were included in a retrospective study. The clinical data and testing result of semen analysis and sperm morphology were collected and combined with the literature for comprehensive analysis.Results:Spermatogenesis dysfunction was discovered in 37 of 87 (42.53%) male translocation carriers. The frequency of translocation varied from chromosome to chromosome, its influence on spermatogenesis was also different. Chromosome 1 occurred 16 times, but chromosome Y and 18 occurred only one time. Spermatogenesis dysfunction was observed in 4 cases. The 4 cases showed sex chromosomes translocation and complex chromosome rearrangement. A total of 122 breakpoint regions were identified. Among them, 14 chromosomal bands occurred 3 or more times. Different breakpoint regions had a different influence on the sperm quality. The carriers of Xq28 breakpoint were azoospermatism. Spermatogenesis dysfunction occurred in 3 of 4 carriers involving band 19q13.Conclusion:The results indicate genetic heterogeneity on spermatogenesis in the male carriers of chromosomal balanced translocation. Clinical manifestations range from normal to oligozoospermia, asthenozoospermia or even azoospermia. Chromosome 1 is most frequently involved. The translocation of Xq28 has the most serious influence on spermatogenesis. All these carriers are diagnosed with azoospermia.

OBJECTIVE: To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype. METHODS: After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification. RESULTS: A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously. CONCLUSION Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.
Cytoskeletal Proteins ; Dwarfism ; Female ; Genomics ; Humans ; Molecular Biology ; Muscle Hypotonia ; Mutation ; Pedigree ; Spine/abnormalities* ; Whole Exome Sequencing

Background and Objectives: Induced pluripotent stem cells (iPSCs) are usually generated by reprogramming differentiated cells through the introduction of specific transcription factors, but this is a difficult and inefficient process.Valproic acid (VPA) is a histone deacetylase inhibitor that significantly improves the efficiency of iPSC generation.But its role and mechanism are still unclear. Methods: and Results: We transduced Bactrian camel fetal fibroblasts (BCFFs) with retroviruses carrying defined factors (OCT4, SOX2, KLF4, c-MYC and EGFP; OSKMG) in the presence of VPA. Cells were collected (Day 7) and analyzed using RNA-seq technology. Afterwards, different groups of cells and transcriptomics results were detected by PCR and qRT-PCR technology. The results showed that VPA promoted the expression of the endogenous gene c-Myc and inhibited cell proliferation; at the same time, it promoted the expression of VEGF and other genes related to angiogenesis. Conclusions When VPA is added to the culture medium, only the cells that have begun to reprogram can break the G2/M repression through the expression of the endogenous gene c-Myc, and use the nutrients and space in the culture dish to proliferate normally, which can achieve the purpose of directly improving the efficiency of reprogramming.Another new discovery for Bactrian camels, VPA significantly increased the expression of VEGFC and other genes, promoting the transformation of fibroblasts to endothelial cells (different from the mesenchymal-to-epithelial transition process of other species) to accelerate the early induction of Bactrian camels iPSc process. Overall, this study proved the new mechanism of VPA in enhancing the induction of pluripotency from the transcriptome level.

Background and Objectives: Induced pluripotent stem cells (iPSCs) are usually generated by reprogramming differentiated cells through the introduction of specific transcription factors, but this is a difficult and inefficient process.Valproic acid (VPA) is a histone deacetylase inhibitor that significantly improves the efficiency of iPSC generation.But its role and mechanism are still unclear. Methods: and Results: We transduced Bactrian camel fetal fibroblasts (BCFFs) with retroviruses carrying defined factors (OCT4, SOX2, KLF4, c-MYC and EGFP; OSKMG) in the presence of VPA. Cells were collected (Day 7) and analyzed using RNA-seq technology. Afterwards, different groups of cells and transcriptomics results were detected by PCR and qRT-PCR technology. The results showed that VPA promoted the expression of the endogenous gene c-Myc and inhibited cell proliferation; at the same time, it promoted the expression of VEGF and other genes related to angiogenesis. Conclusions When VPA is added to the culture medium, only the cells that have begun to reprogram can break the G2/M repression through the expression of the endogenous gene c-Myc, and use the nutrients and space in the culture dish to proliferate normally, which can achieve the purpose of directly improving the efficiency of reprogramming.Another new discovery for Bactrian camels, VPA significantly increased the expression of VEGFC and other genes, promoting the transformation of fibroblasts to endothelial cells (different from the mesenchymal-to-epithelial transition process of other species) to accelerate the early induction of Bactrian camels iPSc process. Overall, this study proved the new mechanism of VPA in enhancing the induction of pluripotency from the transcriptome level.

Objective To investigate the expression of MPZL1 in gastric cancer tissues, its relation with the prognosis, and its effects on proliferation and colony formation of gastric cancer. Methods GEPIA and UALCAN databases were used to analyze the expression of MPZL1 in various malignant tumors. The KM Plotter database and UALCAN database were used to analyze the effect of MPZL1 on the overall survival of gastric cancer patients. The expression of MPZL1 protein and the changes of apoptosis-related proteins in gastric cancer cells were detected by Western blot, and the effects of MPZL1 expression on cell proliferation and colony formation were detected by CCK-8 and colony formation assay, respectively. Results MPZL1 was found to be highly expressed in various malignant tumors by GEPIA database. The results of UALCAN and KM Plotter databases analysis showed that MPZL1 was highly expressed in gastric cancer tissues, and might be correlated with the overall survival of gastric cancer patients. The results of CCK-8 and colony formation assay showed that the overexpression of MPZL1 promoted the proliferation and colony formation ability of gastric cancer cells (P < 0.05). Western blot results showed that compared with control group, the expression levels of pro-apoptotic proteins Bad and Caspase-7 in the overexpression group were significantly lower while those in knockdown group were higher. Conclusion MPZL is highly expressed in gastric cancer tissues and promotes the proliferation and colony formation of gastric cancer cells, which may be related to the inhibition of apoptosis.

OBJECTIVE: To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect. METHODS: Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromosomal copy number variations, and fluorescence in situ hybridization (FISH) was used to verify the result. RESULTS: Fetal karyotype analysis showed an unknown chromosomal fragment in 21q21 region. SNP-array discovered a 7.5 Mb duplication in the 21q22.12q22.3 region. FISH confirmed that the unknown fragment was derived from a 21q22.12q22.3 duplication. CONCLUSION Combined use of karyotype analysis, SNP-array and FISH has clarified the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which has enabled more accurate prenatal diagnosis and genetic counseling.