BACKGROUND: Schwannomatosis is the third subtype of neurofibromatosis. Because the tumor is multiple and prone to recurrence, it often brings challenges to clinical diagnosis and treatment. In the past decade, researchers have come to realize the relationship between the SMARCB1 gene and schwannomatosis, which is expected to improve the current level of diagnosis and treatment. CASE DESCRIPTION: We collected the clinical data of intraspinal schwannomatosis in the same family, which is rare, and carried out the genetic tests on 3 generations of family members (N = 25). We found that 8 family members had germline mutations of the SMARCB1 gene, manifested as mutation at the splice site between SMARCB1 gene exon 8 and 9 (c.1118 D 1G > A). CONCLUSIONS: The structural and functional abnormalities of proteins caused by the mutations of the SMARCB1 gene may be the molecular basis for the pathogenesis of schwannomatosis in this family. This study may provide clues for the study of schwannomatosis in the future.

Methods: This study assessed CADM1 expression in 84 cases of bladder tissues for association with clinicopathological parameters from bladder cancer patients and then investigated the effects of CADM1 overexpression on bladder cancer cells in vitro.

Renal cell carcinoma (RCC) and urothelial carcinoma (UC) of the renal pelvis are not uncommon urological malignancies. However, simultaneous occurrence of RCC and UC in a patient is extraordinarily rare. We report a case of simultaneous contralateral renal cell carcinoma and urothelial carcinoma of the renal pelvis. The patient, a 72-year-old man, presented to our department with intermittent painless gross hematuria of 3 months duration. Radiologic examination revealed a solid mass in the right kidney and additionally another mass in the pelvis of the contralateral kidney with severe hydronephrosis. For the carcinoma of the pelvis, the patient chose radical nephroureterectomy with bladder cuff removal; for the renal cell carcinoma, the patient chose active surveillance. For follow-up during the surveillance period, we suggested computed tomography (CT) or magnetic resonance imaging every 3 months in the first year, every 6 months in the next 2 years and every year thereafter. After 2 years, the patient is in good health and disease-free under strict surveillance. We discuss this rare occurrence and our management approach.

The urinary bladder is involved in less than 0.2% of lymphomas, and most of these are mucosa-associated lymphoid tissue (MALT); fewer than 20% of lymphomas of the urinary bladder are diffuse large B-cell lymphoma (DLBCL). Herein, we report a case of DLBCL in a 62-year-old man treated by 6 cycles of R-CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone plus the monoclonal antibody rituximab) chemotherapy, without local or distant recurrences after 16-month's follow-up. A literature review is included.

Objective To analyze the diagnosis,treatment and prognosis of small cell carcinoma of bladder (SCCB) in order to improve the understanding of it.Methods The pathological and clinical data of 5 cases of SCCB were retrospectively analyzed.All patients were male,aged 50 to 78 years (mean age,64 years).Clinical manifestations of 4 cases were gross hematuria,the other case was found by health examination.Ultrasonography results of 3 cases were medium echo tumors,the other 2 cases were hypoecho tumors.The diameter of the tumor was 2.1 to 4.0 cm (mean,3.0 cm).There were 3 patients accepted CT scan.One of them was found of hydronephrosis and multiple pelvic lymph nodes.All patients accepted diagnostic TURBT.Three of them accepted postoperative chemotherapy (1 cycle) without other surgery.Two patients accepted radical cystectomy with postoperative chemotherapy (3 cycles) after bladder tumor biopsy.Results Pathological findings showed that tumor cells were small,round and sheet in arrangement.These hyperchromatic nuclei showed limited cytoplasm with lack of nesting character.Neuron specific enolase,chromogranin A and synaptophysin were positive in immunohistochemistry.The final diagnosis was SCCB'.Two of the three patients who accepted TURBT with postoperative chemotherapy died 7 and 8 months postoperatively,the other one was alive for 32 months.Another two patients who accepted radical cystectomy with postoperative chemotherapy were alive for 16 and 26 months.Conclusions SCCB is a rare tumor which has high malignancy and poor prognosis.Radical cystectomy in combination with postoperative chemotherapy is the main treatment.Retained bladder surgery with chemotherapy is an alternative choice.

Objective To explore the expression,correlation and clinic-pathological characters of zinc finger E-box binding homeobox 1 (ZEB1) and E-cadherin in normal bladder tissues and bladder urothelial carcinoma(BUC).Methods Immunohistochemical staining was performed on paraffin embedded sections to detect the expression of ZEB1 and E-cadherin in 86 cases of BUC,diagnosed by pathology,between March 2008 and March 2011.Among them,51 cases were male and 35 cases were female.The mean age was (64.1 ± 10.2)years,range 36 to 72 years.40 cases were older than 65 years old,and 46 cases were less than 65 years old.The pathological classification included G1 in 28 cases,G2-G3 in 58 cases.The TNM classification showed that Ta-T1 stage in 34 cases,T2-T4 in 52 cases.Single lesion was found in 49 cases and multi lesion was found in 37 cases.55 cases were primary lesion;the other 31 cases were diagnosed as tumor recurrence.Normal bladder mucosa was obtained from 16 patients with BPH.Their age ranged from 51 to 75 years old,mean (58.6 ± 18.4) years old.Similar immunohistochemical staining about ZEB1 and E-cadherin was performed.The expression of ZEB1 and E-cadherin in different tissue and its relationship with the clinic pathological were further analyzed.Results The positive rate of ZEB1 in bladder cancer group (39.5％,34/86) was significantly higher than that in normal bladder mucosa group (0,0/16) (P ＜ 0.01).The positive rate of ZEB1 in high grade bladder cancer (G2-G3) was 48.3％ (28/58),which was significant higher than that in low grade bladder cancer (G1) (21.4％,6/28) (P ＜0.05);The positive rate of ZEB1 in muscle-invasive bladder cancer (T2-T4) was 51.9％ (27/52),which was significant higher than that in non-muscle-invasive cancer (Ta-T1) (20.6％,7/34) (P ＜ 0.01).The abnormal rate of E-cadherin expression in bladder cancer (61.6％,53/86) was significantly lower than that in normal bladder mueosa (81.2％,13/16) (P ＜ 0.01).The abnormal expression rate of E-cadherin in high grade bladder cancer (G2-G3) (53.4％,31/58) was significantly lower than that in low grade bladder cancer (G1) (78.6％,22/28)(P ＜ 0.05);The abnormal rate of E-cadherin expression in invasive bladder cancer (T2-T,4) was 51.9％ (27/52),which was lower than that in non-muscle invasive (Ta-T1) cancer (76.5％,26/34) (P ＜ 0.05).In bladder cancer,there was a negative correlation between the abnormal expression of E-cadherin and positive expression of ZEB1 (r =0.247,P ＜ 0.05).Conclusion The expressions of ZEB1 and E-cadherin in bladder cancer were negatively correlated,which had high correlated with tumor grade and stage.

Objective To investigate the clinicopathological features, treatment modalities, and prognostic factors for survival in patients with urinary tract small cell carcinoma (UT-SCC).Methods A total of 25 patients treated from June 2000 to December 2014 were included in the retrospective study.The data included age, gender, primary tumors origins, stage, treatment modalities, progression-free survival (PFS), overall survival (OS), pathology and immunohistochemistry.Of these cases, 22 were male, and the other was female, whose age was 45-79 years (mean age 67).20 cases small cell carcinoma of bladder patients and 2 small cell carcinoma of prostate cancer patients were included.The number of small cell carcinoma in pelvis,ureter and retroperitoneal was 1 respectively.The patients with small cell carcinoma of the urinary tract were classified as disease and extensive disease.17 bladder small cell carcinomas were limited disease and 3 cases were extensive disease;Prostate small cell carcinomas were both extensive disease;The small cell carcinomas in pelvis, ureter were limited disease;The small cell carcinoma in retroperitoneal was extensive disease.10 bladder small cell carcinomas which were limited disease received radical cystectomy.6 of 10 patients received etoposide and cisplatnum (EC).4 of 10 patients received gemcitabine and cisplatnum (GC).7 bladder small cell carcinomas patients who with limited disease refused to receive radical cystectomy in which 2 patients received TURBT and 5 patients received TURBT followed chemotherapy.Both prostate small cell carcinomas received chemoradiotherapy.2 small cell carcinomas in upper urinary tract (pelvis and ureter) received radical nephroureterectomy with bladder cuff resection.The patient of retroperitoneal small cell carcinoma received percutaneous nephrostomy after biopsy.The progression-free survival (PFS) and overall survival (OS) of these patients are analyzed;the influence of TURBT with adjuvant chemotherapy and clinicopathologic characteristics were analyzed in median PFS and OS.PFS and OS were compared between groups as a function of time, using a Kaplan-Meier survival curve analysis and the log-rank significance test.All statistical tests were two-sided, and P values ＜ 0.05 were considered statistically significant.Results 25 patients with a pathologic confirmation of UT-SCC,either by biopsy or surgery,were finally included.These patients were classified as pure UT-SCC (14) and Mixed UT-SCC (11).Mixed UT-SCC was defined as tumors containing both SCC and non-SCC components,regardless of the proportion of the latter.13 cases were strongly positive and 3 cases were weakly positive in neuron specific enolase (NSE) level.8 cases were strongly positive and 2 cases were weakly positive in CgA level.Patients with limited disease experienced a significant longer PFS and OS compared with extensive disease subjects (PFS 13.2 vs.7.8 x2=13.53 P＜0.01;OS27.2 vs.12.7x2=19.88 P＜0.01).Patients with bladder SCC showed a significantly higher median PFS and OS compared with patients with SCC of other parts of urinary tract (PFS 12.8 vs.8.2 x2 =12.00, P =0.001;OS 26.3 vs.13.2 x2 =14.45,P ＜0.01) .The two different chemotherapy regimens (GC and EC) have no influence on survival (PFS: 16.3 vs.12.5,x2 =3.34, P =0.07;OS 29.5 vs.22.8, x2 =1.66, P =0.198).TURBT followed by adjuvant therapy have no influence on survival (PFS 14.5 vs.12.0 t =1.30 P =0.251;OS 24.5 vs.28.4 t =0.50,P =0.636).Conclusions The primary tumors origins and stage may have influence on survival in patients with UT-SCC.Patients with bladder small cell carcinoma and limited disease experienced a longer survival.

Objective To evaluate the relationship between metabolic syndrome , its components and the histopathological findings in bladder cancer patients .Methods The data of 326 patients in our department between October 2010 and October 2013 were retrospectively analyzed.Age, gender, stature, weight, histologic stage, grade, and the presence of hypertension , diabetes mellitus, body mass index ( BMI) were evaluated.There were 64 females, 262 males, aged 23-89 years, including 241 low stage, 85 high stage, 155 low grade, and 171 high grade, respectively.There were 117 cases with hypertension, 95 cases with diabetes mellitus , 139 cases with BMI ≥25 kg/m2 and 49 cases with metabolic syndrome.The TNM classification was used , with Ta and T1 tumor accepted as low stage , T2 , T3 and T4 tumor as high stage bladder cancer.In addition, the pathological grading system adopted by the 2004 World Health Organization was applied.Non-invasive papillary urothelial neoplasms of low malignant potential were regarded as low grade.Analyses were completed using Chi-square tests to evaluate the correlation of diabetes mellitus , hypertension and obesity with the pathologic stage and grade .Moreover , the pathologic stage , grade and recurrence were compared between metabolic syndrome and non-metabolic syndrome groups . Results Metabolic syndrome was significantly associated with histological grade and stage (P=0.001, P=0.011). Diabetes mellitus and obesity were also associated with histological grade and stage (P=0.006, P<0.01). Conclusions Patients with metabolic syndrome were found to have significant higher T stage and grade of bladder cancer .Diabetes mellitus and obesity may promote the grading and staging of bladder cancer .

目的:探讨尿液载脂蛋白-A1(Apo-A1)在膀胱癌诊断中的临床价值.方法:收集膀胱癌患者及健康人尿液标本行双向电泳,根据电泳图谱挑选表达差异显著的蛋白进行质谱鉴定分析;免疫印迹验证后ELISA方法检测尿液中差异蛋白的表达水平,绘制受试者工作特征(ROC)曲线以确定该蛋白对膀胱癌诊断的最佳工作点,并进行大样本临床验证试验,计算相应的特异度和灵敏度;并分析差异蛋白检测与尿脱落细胞检查联合应用诊断膀胱癌的临床价值.结果:尿液双向电泳结合质谱分析结果显示,Apo-A1在膀胱癌组呈现显著的高表达趋势.ELISA结果表明Apo-A1在膀胱癌组含量明显高于健康对照组,差异有统计学意义(P＜0.01);以19.21 μg/L为临界点,可将膀胱癌患者与非膀胱癌患者较好区分,灵敏度为88.3％,特异度为83.7％.将Apo-A1检测与尿脱落细胞学检查联合应用,能够明显提高膀胱癌诊断的灵敏度.结论:Apo-A1有可能是膀胱癌诊断的一个生物学标志物,具有潜在的临床应用价值.

VSC-HVDC has a broad application prospects.Compared with conventional HVDC,the new HVDC transmission technology has many advantages.According to shortcomings of the traditional PI control,a PR(proportional-resonant) controller is given in this paper.The controller can achieve zero-error control in the αβ coordinate system with no need of forward compensation.Finally,the simulation model is built in PSCAD / EMTDC software.The simulation results show that PR controller is correct and effective.

Objective To summarize the diagnosis and treatment strategy of the retroperitoneal fibrosis(RPF)associated with hydronephrosis.Methods The clinical data of 26 RPF cases treated from Jan.2005 to Mar.2012 were analyzed retrospectively.Early symptoms mainly included lumbar,flank,abdominal pain,nausea and vomit.Retroperitoneal mass was found in 12(46.2％)cases by ultrasonography,while in 23(88.5％)cases by CT.Results Ureterolysis with intra-peritoneal transposition was underwent in 10 cases who were followed up for 6-25 months,and no relapse was found.Ureterocystostomy was underwent in 1 cases for difficulty in ureterolysis who was followed up for 45 months,and no relapse was found.D-J stent inter-ureter drainage was performed in 15 cases,all of whom had replaced the D-J stent discontinuously except that 2 cases had ceased replacement successfully,and all of the obstruction were relieved during the follow-up period for 16-84 months post-operatively.Conclusions Retroperitoneal mass can be found by CT of abdomen effectively.The therapeutics should depend on the pathological condition of the retroperitoneal mass.Obstruction can be relieved effectively by both ureterolysis with intraperitoneal transposition and D-J stent inter-ureter drainage and replacement.The complication occurred in the replacement of D-J can be relieved or eliminated by all kinds of measures.The unimpaired kidney drainage should be paid attention in the follow-up.

Objective To summarize the pathological and imaging features and treatment of retroperitoneal bronchogenic cyst.Methods The clinical data of 2 cases treated from October 2001 to November 2009 were summarized.The first patient was a 55-year-old woman with the chief complaint of lumbago in the left flank for 10 d.B-ultrasound showed mixed solid and cystic mass in spleen space with a diameter of 3.9 cm with thin wall and without rich blood supply.CT showed the lesion in the left adrenal gland region measured about 4 cm ×4 cm with low density with CT value of 10 HU,and enhanced scan was not obvious with CT value of 20 HU.It was diagnosed as left adrenal tumor and tumor resection was performed.The second case was a 17-year-old young man with the chief complaint of gross hematuria for 3 weeks after strenuous exercise.Ultrasonography found a 8.4 cm × 7.7 cm × 9.0 cm anechoic area surrounding the bladder.CT showed about 9.0 cm × 7.2 cm × 9.0 cm cystic lesion with thin wall,and the center density was uniformity in presacral space with CT value of8 HU.IVU showed visible semi-circular lower edge on the right edge of the bladder.The patient was diagnosed of presacral cyst and cystectomy was performed successfully.Results The pathology report of the first case:organizing wall with fibrous connective tissue,with most of the lining overlying pseudostratified ciliated columnar epithelium,goblet cells and subepithelial basement membrane.Pathological diagnosis was bronchogenic cyst,and the patient was followed up for 9 months without recurrence.The pathology report of the second case:pathological tissue fibers false wall tissue lining ciliated columnar epithelium,goblet cells seen in epithelium,fibrous tissue in the visible structure of mixed glands,a small amount of cartilage and muscle tissue.The diagnosis was bronchogenic cyst,and the patient was followed up for 2 years without recurrence.Conclusions Retroperitoneal bronchogenic cyst is rare and easily misdiagnosed.Radiology imaging can identify cystic features,while a few may be with high density without specificity.Surgical removal of retroperitoneal bronchogenic cyst with symptoms has good prognosis and may prevent malignant transformation and secondary infection.

Objective To explore the clinical and histopathological features of metanephric adenoma (MA). Methods Clinical and pathological data of 10 cases of MA were analyzed retrospectively.There were 4 males and 6 females,aged from 33 to 65 years,with an average of 45 years.2 patients had flank pain,4 patients had gross hematuria,and 4 patients were found by physical examination.The average diameter of tumor was 4.5 cm (2.5 - 8.0 cm).All patients were diagnosed as renal tumor by CT scan.9 patients underwent radical nephrectomy and 1 patient underwent partial nephrectomy. Results Pathological examination found that the tumors are composed of densely packed small uniform cells with regular nuclei that formed a tubular or adenoid pattern.Mitotic figures were absent or rare.4 patients were diagnosed as MA,2 cases were diagnosed as low-grade malignant MA,and 4 cases were diagnosed as MA with malignant component (2 cases of adenocarcinoma,1 case of chromophobe cell carcinoma,and 1 case of well differentiated papillary adenocarcinoma),7 cases were followed up for 22 months ( 10 to 34 months) without recurrence or metastasis. Conclusions MA is very rare benign renal tumor originating from epithelium,and a few are malignant,and some may contain malignant ingredients.Nephron-sparing surgery and radical nephrectomy are eligible for the treatment of MA.Considering the uncertainty of the biological behavior and cellular origin of MA,a long-term follow-up is necessary.

Objective To discuss the clinical and pathological features of urachal carcinoma.Methods The clinical and pathological data of 7 patients diagnosed as urachal carcinoma were retrospectively analyzed,and the cIinicopathologic features,diagnosis and treatment,surgical characteristics and surgical outcomes were reviewed.There were 6 males and 1 female.Patient's age ranged from 26-75 years,with average of 52 years.Examinations before surgery included ultrasound,cystoscopy,urine cytology,CT and IVU.Six patients underwent extensive partial cystectomy and 1 patient underwent conventional partial cystectomy. Results Pathological diagnosis were 5 cases of mucinous adenocarcinoma,1 case of not classified adenocarcinoma,1 case of small cell neuroendocrine carcinoma.Clinical stages according to Sheldon staging system were 6 cases of stage ⅢA and 1 case of ⅢC.One patient died of bone metastasis 3 months after operation,1 patient experienced recurrence in bladder neck and urethra in 15 months and 24 months after operation and received TUR-Bt,the other 5 patients were alive without recurrence and metastasis with follow-up of 2-30 months. Conclusion Urachal carcinoma is a rare malignancy,and patients with this disease haye a poor prognosis.