Purpose To explore the clinical manifestations,imaging features,and histopathological characteristics of intravascular large B-cell lymphoma(IVL-BCL)involving the central nervous system(CNS).Methods Clinical and imaging data from 5 cases of IVL-BCL were collected.Immunohistochemical staining and FISH were performed to analyze their clinicopathological characteristics,with a comprehensive review of relevant literatures.Results All 5 pa-tients were elderly,with a male-to-female ratio of 4∶1,and an age of onset ranging from 53 to 67 years.The disease course varied from 4 months to 2 years.All patients had varying degrees of neurological damage symptoms.In this study,4 patients experienced varying degrees of weakness in the lower limbs.MRI findings were nonspecific,but all 5 patients showed evidence of cerebrovascular lesions.Histologically,the lesions were characterized by aggregates of lymphoid tumor cells within the lumens of small cerebral vessels,which could obstruct the lumens and cause ischemic and hypoxic changes.Tumor cells did not involve the extravascular brain parenchyma.Immunohistochemically,tumor cells widely expressed mature B-cell markers(CD19,CD20,CD79a,PAX5)with a high Ki67 proliferation index.All 5 patients received systemic chemotherapy after diagnosis,1 patient died,2 patients achieved clinical and physical symptom relief and were still under follow-up.2 patients were undergoing systemic examination before chemotherapy.Conclusion Intravascular large B-cell lymphoma involving the central nervous system is rare,and both clinical mani-festations and imaging examinations lack specific indicators.Preoperative diagnosis is very difficult and can only rely on diagnostic brain biopsy or pathological diagnosis after craniotomy.

Purpose To explore the clinical manifestations,imaging features,and histopathological characteristics of intravascular large B-cell lymphoma(IVL-BCL)involving the central nervous system(CNS).Methods Clinical and imaging data from 5 cases of IVL-BCL were collected.Immunohistochemical staining and FISH were performed to analyze their clinicopathological characteristics,with a comprehensive review of relevant literatures.Results All 5 pa-tients were elderly,with a male-to-female ratio of 4∶1,and an age of onset ranging from 53 to 67 years.The disease course varied from 4 months to 2 years.All patients had varying degrees of neurological damage symptoms.In this study,4 patients experienced varying degrees of weakness in the lower limbs.MRI findings were nonspecific,but all 5 patients showed evidence of cerebrovascular lesions.Histologically,the lesions were characterized by aggregates of lymphoid tumor cells within the lumens of small cerebral vessels,which could obstruct the lumens and cause ischemic and hypoxic changes.Tumor cells did not involve the extravascular brain parenchyma.Immunohistochemically,tumor cells widely expressed mature B-cell markers(CD19,CD20,CD79a,PAX5)with a high Ki67 proliferation index.All 5 patients received systemic chemotherapy after diagnosis,1 patient died,2 patients achieved clinical and physical symptom relief and were still under follow-up.2 patients were undergoing systemic examination before chemotherapy.Conclusion Intravascular large B-cell lymphoma involving the central nervous system is rare,and both clinical mani-festations and imaging examinations lack specific indicators.Preoperative diagnosis is very difficult and can only rely on diagnostic brain biopsy or pathological diagnosis after craniotomy.

von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary tumor predisposition syndrome. Central nervous system hemangioblastoma is one of its major clinical manifestations, commonly occurring in the infratentorial region and spinal cord, while supratentorial involvement is rare. A 23-year-old female patient with sellar and spinal hemangioblastomas, along with polycystic pancreas, who presented with back pain and decreased vision in the left eye, was reported. The diagnosis of VHL disease was confirmed based on family history, pathological findings, and genetic testing. This case was reported to enhance clinicians′ awareness of this disease, facilitating early diagnosis and intervention for patients and their families to improve clinical outcomes.

von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary tumor predisposition syndrome. Central nervous system hemangioblastoma is one of its major clinical manifestations, commonly occurring in the infratentorial region and spinal cord, while supratentorial involvement is rare. A 23-year-old female patient with sellar and spinal hemangioblastomas, along with polycystic pancreas, who presented with back pain and decreased vision in the left eye, was reported. The diagnosis of VHL disease was confirmed based on family history, pathological findings, and genetic testing. This case was reported to enhance clinicians′ awareness of this disease, facilitating early diagnosis and intervention for patients and their families to improve clinical outcomes.

Objective To explore the diagnostic value of urinary liquid-based cytology(LBC)targeted fluorescence in situ hybridization(FISH)for urothelial carcinoma of the bladder.Methods Nuclear matrix protein 22(NMP22)detection,urinary LBC and FISH were performed in 128 patients.The sensitivity and specificity of the three kinds of tests were analyzed with postoperative pathological results as the gold standard.Results The sensitivity of NMP22,urinary LBC and FISH was 61.11％,79.17％and 82.46％,the specificity was 57.14％,73.21％and 86.67％,respectively.The sensitivity of NMP22 and urinary LBC in detecting high BUC was better than that of low BUC,and the difference was statistically significant(P=0.01,P=0.03).There was no significant difference in the sensitivity of the three tests for the diagnosis of muscle-invasive bladder cancer and non muscle-invasive bladder cancer(P≥0.05).Conclusion Urinary LBC targeted FISH has high sensitivity and specificity in the diagnosis of urothelial carcinoma of the bladder and low-grade urothelial carcinoma.It can be an important method for the early screening and diagnosis of bladder cancer.

Background: SM-like (LSM) genes a family of RNA-binding proteins, are involved in mRNA regulation and can function as oncogenes by altering mRNA stability. However, their roles in B-cell progression and tumorigenesis remain poorly understood. Methods: We analyzed gene expression profiles and overall survival data of 123 patients with mantle cell lymphoma (MCL). The LSM index was developed to assess its potential as a prognostic marker of MCL survival. Results: Five of the eight LSM genes were identified as potential prognostic markers for survival in MCL, with particular emphasis on the LSM.index. The expression levels of these LSM genes demonstrated their potential utility as classifiers of MCL. The LSM.index-high group exhibited both poorer survival rates and lower RNA levels than did the overall transcript profile. Notably, LSM1 and LSM8 were overexpressed in the LSM.index-high group, with LSM1 showing 2.5-fold increase (p < 0.001) and LSM8 depicting 1.8-fold increase (p < 0.01) than those in the LSM.index-low group.Furthermore, elevated LSM gene expression was associated with increased cell division and RNA splicing pathway activity. Conclusions The LSM.index demonstrates potential as a prognostic marker for survival in patients with MCL. Elevated expression of LSM genes, particularly LSM1 and LSM8, may be linked to poor survival outcomes through their involvement in cell division and RNA splicing pathways. These findings suggest that LSM genes may contribute to the aggressive behavior of MCL and represent potential targets for therapeutic interventions.

To investigate the clinical and pathological characteristics of duodenal-type follicular lymphoma (D-FL), and to deepen the understanding of Duodenal-type follicular lymphoma. The clinical symptoms, endoscopic features, pathologic features, immunophenotype, molecular pathological features and treatment follow-up of 18 D-FL patients diagnosed in Department of Pathology, Beijing Tiantan Hospital affiliated to Capital Medical University between January 2020 and July 2023 were summarized. A total of 18 patients with D-FL were included, including 10 males and 8 females. The median age was 49 (32-69) years respectively. Most of the patients were found during gastroenteroscopy or presented with the common gastrointestinal symptoms of stomach pain, acid reflux, vomiting and diarrhea. Most endoscopic findings were multiple small gray and white polyposis. In the pathological morphology, the mucous layer and submucous layer showed lymphoid follicular structures with full and strained follicles. The immunophenotype showed that the tumor cells strongly expressed CD20 and BCL2 and had low proliferation activity. Immunoglobulin clonal analysis of 1 case showed IgK monoclonal rearrangement (1/1). FISH showed 1 case of BCL2 gene rearrangement (1/3). All patients did not receive targeted chemotherapy and adopted a wait-and-see strategy. Median follow-up was 12 (2-34) months. This study shows that D-FL is an indolent lymphoma, which tends to occur in the duodenum and has a good prognosis.

Background: SM-like (LSM) genes a family of RNA-binding proteins, are involved in mRNA regulation and can function as oncogenes by altering mRNA stability. However, their roles in B-cell progression and tumorigenesis remain poorly understood. Methods: We analyzed gene expression profiles and overall survival data of 123 patients with mantle cell lymphoma (MCL). The LSM index was developed to assess its potential as a prognostic marker of MCL survival. Results: Five of the eight LSM genes were identified as potential prognostic markers for survival in MCL, with particular emphasis on the LSM.index. The expression levels of these LSM genes demonstrated their potential utility as classifiers of MCL. The LSM.index-high group exhibited both poorer survival rates and lower RNA levels than did the overall transcript profile. Notably, LSM1 and LSM8 were overexpressed in the LSM.index-high group, with LSM1 showing 2.5-fold increase (p < 0.001) and LSM8 depicting 1.8-fold increase (p < 0.01) than those in the LSM.index-low group.Furthermore, elevated LSM gene expression was associated with increased cell division and RNA splicing pathway activity. Conclusions The LSM.index demonstrates potential as a prognostic marker for survival in patients with MCL. Elevated expression of LSM genes, particularly LSM1 and LSM8, may be linked to poor survival outcomes through their involvement in cell division and RNA splicing pathways. These findings suggest that LSM genes may contribute to the aggressive behavior of MCL and represent potential targets for therapeutic interventions.

Background: SM-like (LSM) genes a family of RNA-binding proteins, are involved in mRNA regulation and can function as oncogenes by altering mRNA stability. However, their roles in B-cell progression and tumorigenesis remain poorly understood. Methods: We analyzed gene expression profiles and overall survival data of 123 patients with mantle cell lymphoma (MCL). The LSM index was developed to assess its potential as a prognostic marker of MCL survival. Results: Five of the eight LSM genes were identified as potential prognostic markers for survival in MCL, with particular emphasis on the LSM.index. The expression levels of these LSM genes demonstrated their potential utility as classifiers of MCL. The LSM.index-high group exhibited both poorer survival rates and lower RNA levels than did the overall transcript profile. Notably, LSM1 and LSM8 were overexpressed in the LSM.index-high group, with LSM1 showing 2.5-fold increase (p < 0.001) and LSM8 depicting 1.8-fold increase (p < 0.01) than those in the LSM.index-low group.Furthermore, elevated LSM gene expression was associated with increased cell division and RNA splicing pathway activity. Conclusions The LSM.index demonstrates potential as a prognostic marker for survival in patients with MCL. Elevated expression of LSM genes, particularly LSM1 and LSM8, may be linked to poor survival outcomes through their involvement in cell division and RNA splicing pathways. These findings suggest that LSM genes may contribute to the aggressive behavior of MCL and represent potential targets for therapeutic interventions.

Objective:To report the clinical, pathological, electrophysiological and genic characteristics of a patient with familial amyloidosis Finnish type.Methods:The clinical characteristic of a 60-year-old female who admitted to Beijing Tiantan Hospital, Capital Medical University in June 2020 was analyzed. Meanwhile, the patient underwent electrophysiological examination, biopsy of labial gland, rectum and skin and gene sequencing analysis.Results:The patient presented left facial paralysis at the age of 50, right facial paralysis and thickening of lips at the age of 55, dysarthria and dysphagia at the age of 56. Physical examination of the patient showed signs of cranial nerves involvement and skin thinning and smoothness. Slit lamp showed corneal lattice dystrophy. Electrophysiological findings of the patient suggested bilateral carpal tunnel syndrome. Latencies were prolonged in bilateral visual evoked potential P100. The deep sensory conduction pathways in bilateral C 7 to biparietal and T 12 to biparietal cortex were abnormal. Pathology of the three biopsies of the patient showed the presence of amyloid deposition in the basement membrane around the glands. The heterozygous mutation of c.654 G>T in exon 4 of gelsolin (GSN) gene in the patient resulted in Asp187 Tyr mutation (p.D187Y). Conclusions:The patient with familial amyloidosis Finnish type was characterized by slowly progressive multiple group cranial neuropathy accompanied by corneal lattice dystrophy and skin changes. Optic nerve and spinal cord posterior funiculus sensory conduction pathway and D187Y mutation of GSN gene were involved.