Objective To investigate the clinical relevance and diagnostic or prognostic value of ST3β-galactoside α-2, 3-sialyltransferase 1 (ST3GAL1) in glioma and to confirm its role in promoting malignant phenotypes. Methods Using data from The Cancer Genome Atlas (TCGA) database, we analyzed the correlation between ST3GAL1 expression levels in glioma and clinical parameters to evaluate its diagnostic and prognostic value. The impact of ST3GAL1 on malignant phenotypes of glioma cells-including proliferation, cell cycle progression, apoptosis, and invasion was further validated through ST3GAL1 knockdown experiments. Results The expression level of ST3GAL1 was significantly higher in glioma tissues compared to healthy brain tissues and showed a strong correlation with clinical characteristics of glioma patients. Survival analysis and receiver operating characteristic (ROC) curve demonstrated that ST3GAL1 could serve as a potential diagnostic and prognostic biomarker for glioma. Knockdown of ST3GAL1 suppressed proliferation, invasion, and migration capabilities of glioma cell lines, and induced G1-phase cell cycle arrest. Conclusion ST3GAL1 promotes malignant phenotypes in glioma and plays a critical role in its malignant progression, suggesting its potential as a biomarker for glioma diagnosis and prognosis.
Humans ; Sialyltransferases/metabolism* ; Glioma/diagnosis* ; Cell Proliferation/genetics* ; Cell Line, Tumor ; Brain Neoplasms/enzymology* ; beta-Galactoside alpha-2,3-Sialyltransferase ; Disease Progression ; Prognosis ; Cell Movement/genetics* ; Apoptosis/genetics* ; Male ; Female ; Gene Expression Regulation, Neoplastic ; Biomarkers, Tumor/metabolism* ; Middle Aged

Humans ; Child ; Child, Preschool ; Pinealoma ; Prognosis ; Brain Neoplasms/diagnosis* ; Pineal Gland

Objective: To investigate immunohistochemical patterns of CXorf67 and H3K27me3 proteins in central nervous system germ cell tumors (GCTs) and to assess their values in both diagnosis and differential diagnosis. Methods: A total of 370 cases of central nervous system GCTs were collected from 2013 to 2020 at Huashan Hospital of Fudan University, Shanghai, China. The expression of CXorf67, H3K27me3 and commonly-used GCT markers including OCT4, PLAP, CD117, D2-40, and CD30 by immunohistochemistry (EnVision method) was examined in different subtypes of central nervous system GCTs. The sensitivity and specificity of each marker were compared by contingency table and area under receiver operating characteristic (ROC) curve. Results: Of the 370 cases there were 282 males and 88 females with a mean age of 19 years and a median age of 17 years (range, 2-57 years). Among the GCTs with germinoma, the proportions of male patients and the patients with GCT located in sellar region were both higher than those of GCTs without germinoma (P<0.05), respectively. CXorf67 was present in the nuclei of germinoma and normal germ cells, but not in other subtypes of GCT. H3K27me3 was negative in germinoma, but positive in the nuclei of surrounding normal cells and GCTs other than germinoma. In the 283 GCTs with germinoma components, the expression rate of CXorf67 was 90.5% (256/283), but no cases were positive for H3K27me3. There was also an inverse correlation between them (r²=-0.831, P<0.01). The expression rates of PLAP, OCT4, CD117 and D2-40 were 81.2% (231/283), 89.4% (253/283), 73.9% (209/283) and 88.3% (250/283), respectively. In 63 mixed GCTs with germinoma components, the expression rate of CXorf67 was 84.1% (53/63), while all cases were negative for H3K27me3. The expression rates of PLAP, OCT4, CD117 and D2-40 were 79.4% (50/63), 79.4% (50/63), 66.7% (42/63) and 87.3% (55/63), respectively. The 6 markers with largest area under ROC curve in ranking order were H3K27me3, CXorf67, D2-40, OCT4, PLAP and CD117 (P<0.05). Conclusions: CXorf67 and H3K27me3 have high sensitivity and high specificity in diagnosing germinoma. There is a significant inverse correlation between them. Therefore, they can both be used as new specific immunohistochemical markers for the diagnosis of GCTs.
Adolescent ; Adult ; Brain Neoplasms/pathology* ; Central Nervous System/pathology* ; Central Nervous System Neoplasms/metabolism* ; Child ; Child, Preschool ; China ; Female ; Germinoma/pathology* ; Histones ; Humans ; Male ; Middle Aged ; Neoplasms, Germ Cell and Embryonal/diagnosis* ; Oncogene Proteins ; Transcription Factors/metabolism* ; Young Adult

Objective To analyze the disease spectrum and clinicopathological characteristics of central nervous system(CNS)diseases diagnosed based on pathological findings in Tibet. Methods We collected the data of all the cases with CNS lesions in Tibet Autonomous Region People's Hospital from January 2013 to December 2020.The clinicopathological features were analyzed via light microscopy,immunohistochemical staining,and special staining. Results A total of 383 CNS cases confirmed by pathological diagnosis were enrolled in this study,with a male-to-female ratio of 188∶195 and an average age of(40.03±17.39)years(0-74 years).Among them,127(33.2%)cases had non-neoplastic diseases,with a male-to-female ratio of 82∶45 and an average age of(31.99±19.29)years;256(66.8%)cases had neoplastic diseases,with a male-to-female ratio of 106∶150 and an average age of(44.01±14.87)years.The main non-neoplastic diseases were nervous system infectious diseases,cerebral vascular diseases,meningocele,cerebral cyst,and brain trauma.Among the infectious diseases,brain abscess,granulomatous inflammation,cysticercosis,and hydatidosis were common.The main neoplastic diseases included meningioma,pituitary adenoma,neuroepithelial tumor,schwannoma,metastatic tumor,and hemangioblastoma.The meningioma cases consisted of 95.4%(103/108)cases of grade Ⅰ,3.7%(4/108)cases of grade Ⅱ,and only 1(1/108,0.9%)case of grade Ⅲ.Among the neuroepithelial tumor cases,the top three were glioblastoma,grade Ⅲ diffuse glioma,and ependymoma. Conclusions There are diverse CNS diseases confirmed by pathological diagnosis in Tibet,among which non-neoplastic diseases account for 1/3 of all the cases.Infectious and vascular diseases are the most common non-neoplastic diseases in Tibet,and tuberculosis and parasitic infections are relatively common.The types and proportion of brain tumors in Tibet are different from those in other regions of China,and meningioma is the most common in Tibet,with higher proportion than neuroepithelial tumor.
Adolescent ; Adult ; Aged ; Brain Neoplasms/diagnosis* ; Central Nervous System Diseases/pathology* ; Child ; Child, Preschool ; Ependymoma ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Meningeal Neoplasms ; Middle Aged ; Retrospective Studies ; Tibet/epidemiology* ; Young Adult

Objective To investigate the relationship between the expression of glutathione peroxidase(GPX)genes and the clinical prognosis in glioma patients,and to construct and evaluate the model for predicting the prognosis of glioma. Methods The clinical information and GPX expression of 663 patients,including 153 patients of glioblastoma(GBM)and 510 patients of low-grade glioma(LGG),were obtained from The Cancer Genome Atlas(TCGA)database.The relationship between GPX expression and patient survival was analyzed.The key GPX affecting the prognosis of glioma was screened out by single- and multi-factor Cox's proportional-hazards regression models and validated by least absolute shrinkage and selection operator(Lasso)regression.Finally,we constructed the model for predicting the prognosis of glioma with the screening results and then used concordance index and calibration curve respectively to evaluate the discrimination and calibration of model. Results Compared with those in the control group,the expression levels of GPX1,GPX3,GPX4,GPX7,and GPX8 were up-regulated in glioma patients(all P<0.001).Moreover,the expression levels of other GPX except GPX3 were higher in GBM patients than in LGG patients(all P<0.001).The Kaplan-Meier curves showed that the progression-free survival of GBM with high expression of GPX1(P=0.013)and GPX4(P=0.040),as well as the overall survival,disease-specific survival,and progression-free survival of LGG with high expression of GPX1,GPX7,and GPX8,was shortened(all P<0.001).GPX7 and GPX8 were screened out as the key factors affecting the prognosis of LGG.The results were further used to construct a nomogram model,which suggested GPX7 was the most important variable.The concordance index of the model was 0.843(95%CI=0.809-0.853),and the calibration curve showed that the predicted and actual results had good consistency. Conclusion GPX7 is an independent risk factor affecting the prognosis of LGG,and the nomogram model constructed with it can be used to predict the survival rate of LGG.
Brain Neoplasms ; Glioblastoma ; Glioma/diagnosis* ; Glutathione Peroxidase/metabolism* ; Humans ; Peroxidases ; Prognosis ; Proportional Hazards Models

Cerebral metastases are the most common intracranial tumors in adults,with an increasing incidence in recent years.Radiomics can quantitatively analyze and process medical images to guide clinical practice.In recent years,CT and MRI-based radiomics has been gradually applied to the precise diagnosis and treatment of cerebral metastases,such as the precise detection and segmentation of tumors,the differential diagnosis with other cerebral tumors,the identification of primary tumors,the evaluation of treatment efficacy,and the prediction of prognosis.This article reviews the advances in radiomics of cerebral metastases.
Brain Neoplasms/diagnostic imaging* ; Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Prognosis ; Supratentorial Neoplasms

The abscopal effect is a term that has been used to describe the phenomenon in which localized radiation therapy treatment of a tumor lesion triggers a spontaneous regression of metastatic lesion(s) at a non-irradiated distant site(s). Radiation therapy induced abscopal effects are believed to be mediated by activation and stimulation of the immune system. However, due to the brain’s distinctive immune microenvironment, extracranial abscopal responses following cranial radiation therapy have rarely been reported. In this report, we describe the case of 42-year-old female patient with metastatic melanoma who experienced an abscopal response following her cranial radiation therapy for her brain metastasis. The patient initially presented with a stage III melanoma of the right upper skin of her back. Approximately 5 years after her diagnosis, the patient developed a large metastatic lesion in her upper right pectoral region of her chest wall and axilla. Since the patient’s tumor was positive for BRAF and MEK, targeted therapy with dabrafenib and trametinib was initiated. However, the patient experienced central nervous system (CNS) symptoms such as headache and disequilibrium and developed brain metastases prior to the start of targeted therapy. The patient received radiation therapy to a dose of 30 Gy delivered in 15 fractions to her brain lesions while the patient was on dabrafenib and trametinib therapy. The patient’s CNS metastases improved significantly within weeks of her therapy. The patient’s non-irradiated large extracranial chest mass and axilla mass also shrank substantially demonstrating the abscopal effect during her CNS radiation therapy. Following radiation therapy of her residual chest lesions, the patient was disease free clinically and her CNS lesions had regressed. However, when the radiation therapy ended and the patient continued her targeted therapy alone, recurrence outside of her previously treated fields was noted. The disease recurrence could be due to the possibility of developing BRAF resistance clones to the BRAF targeted therapy. The patient died eventually due to wide spread systemic disease recurrence despite targeted therapy.
Adult ; Axilla ; Brain ; Central Nervous System ; Clone Cells ; Diagnosis ; Female ; Headache ; Humans ; Immune System ; Immunization ; Melanoma ; Molecular Targeted Therapy ; Neoplasm Metastasis ; Radiation, Ionizing ; Recurrence ; Skin ; Skin Neoplasms ; Thoracic Wall ; Thorax

An atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignancy occurring in the first few years of life. This tumor shows rapid growth, a poor response to treatment, and poor prognosis. Cutaneous metastases presents as hamartomatous lesions mimicking skin tags. Immunohistochemical examination shows varied patterns of expression based on the sites of the body affected. Integrase interactor-1 (INI-1) gene sequencing and loss of expression of INI-1 observed with immunostaining can confirm AT/RT. In our patient, the skin lesion was identified at birth. Histopathological examination of the skin lesion could not establish an accurate diagnosis. Two months later, the patient presented with a brain tumor. Immunohistochemical examination of the brain lesion revealed complete loss of INI-1 expression in tumor cells, and the lesion was diagnosed as AT/RT. After that, we can detect the loss of INI-1 expression in the skin on the back. We report a rare case of AT/RT affecting the brain with cutaneous metastasis diagnosed with immunohistochemical staining.
Brain ; Brain Neoplasms ; Diagnosis ; Humans ; Integrases ; Neoplasm Metastasis ; Parturition ; Prognosis ; Skin

PURPOSE: We aimed to investigate organ-specific recurrence or the metastatic pattern of breast cancer according to biological subtypes and clinical characteristics. METHODS: We retrospectively analyzed the medical records of 168 patients with recurrent breast cancer who were diagnosed between January 1, 2000 and April 30, 2017. Four biological subtypes were classified according to estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), and Ki-67 expression: luminal A, luminal B, HER2-enriched, and triple negative breast cancer (TNBC). To analyze recurrence patterns according to biological subtypes, we accessed clinical variables including age at diagnosis, TNM stage, type of surgery in the breast and axilla, histologic grade, nuclear grade, lymphatic, vascular, and neural invasion, Ki-67 expression and recurrence to distant organs. RESULTS: The biological subtypes of recurrent breast cancer comprised the following luminal A (n=33, 19.6%), luminal B (n=95, 56.5%), HER2 enriched (n=19, 11.3%), and TNBC (n=21, 12.5%). Luminal A (7.7%) and B (6.5%) subtypes were associated with the increased rate of local recurrence compared to HER2-enriched (2.4%) and TNBC subtypes (1.8%) (p=0.005). The bone (53.6%) was the most common metastatic organ, followed by the lung (34.5%), liver (29.8%), brain (17.9%), and other visceral organ (7.7%). Bone metastasis was commonly observed in individuals with luminal B (63.2%), HER2-enriched (57.9%), and luminal A (42.4%) subtypes (p=0.005). Most liver metastases occur in individuals with luminal B (40.0%) and HER2-enriched subtypes (31.6%) (p=0.002). CONCLUSION: Luminal B subtype was commonly observed in individuals with recurrent breast cancer, and the bone is the most common target organ for breast cancer metastasis, followed by the lungs and liver.
Axilla ; Brain ; Breast Neoplasms ; Breast ; Diagnosis ; Estrogens ; Humans ; Liver ; Lung ; Medical Records ; Neoplasm Metastasis ; Organ Specificity ; Phenobarbital ; Receptor, Epidermal Growth Factor ; Receptors, Progesterone ; Recurrence ; Retrospective Studies ; Triple Negative Breast Neoplasms

Bilateral thalamic gliomas (BTGs) are rare brain tumors. In general, the prognosis is poor because of the involvement of bilateral thalami and limitations of surgical excision. Consequently, patients with symptoms of personality changes and memory impairment must be differentiated from others. Magnetic resonance imaging (MRI) is essential for the diagnosis of BTGs and reveals a hypo-intense lesion on T1-weighted images and a hyper-intense lesion on T2 images. We report a case of a 17-year-old female patient suffering from progressive cognitive dysfunction and personality changes and subsequent rehabilitation treatment. Brain MRI showed an enlarged bilateral thalamus, with hyperintensity on T2-weighted images and iso-intensity on T1-weighted images. A biopsy was performed, and the pathology revealed a high-grade glioma. The patient was referred for radiotherapy and chemotherapy. She also underwent rehabilitation treatment for 5 weeks and showed improvement in standing balance, endurance, and speech fluency. The patient's Modified Barthel Index scores also improved. Cancer rehabilitation is important in brain tumor patients because they have a higher incidence of neurological sequelae than others. Rehabilitation of patients with a malignant brain tumor is also important for improving health-related quality of life by maintaining the general condition and preventing complications during and after cancer treatment.
Adolescent ; Biopsy ; Brain ; Brain Neoplasms ; Diagnosis ; Drug Therapy ; Female ; Glioma ; Humans ; Incidence ; Magnetic Resonance Imaging ; Memory ; Memory Disorders ; Neurobehavioral Manifestations ; Pathology ; Prognosis ; Quality of Life ; Radiotherapy ; Rehabilitation ; Thalamus