Familial clear renal cell carcinoma consists of hereditary clear renal cell carcinoma syndromes and familial non-syndromic renal cell carcinoma,of which the former can be the renal cell carcinoma accompanied with von Hippel-Lindau disease(VHL), Tuberous Sclerosis Complex(TSC), Birt-Hogg-Dube(BHD) syndrome and familial translocation of chromosomal 3. The most commonly involved gene includes VHL, TSC and BHD. Here, the current research status of familial clear renal cell carcinoma is reviewed.

Objective To investigate the safety and feasibility of sorafenib in metastatic renal cell carcinoma (mRCC) patients with end-stage renal disease (ESRD) undergoing hemodialysis.Methods A case of 65-year-old female patient on hemodialysis and receiving sorafenib treatment for mRCC was reported.Literatures were searched through PubMed for such mRCC with ESRD.Results The patient underwent a left radical nephrectomy because of clear cell RCC.Hemodialysis was introduced because of ESRD four months after the nephrectomy.Lung metastases were found one year after the operation.With the failure of immunotherapy,the patient received sorafenib 800 mg daily.Hemodialysis was carried out three times weekly.The initial sizes of right and left lung metastases were 2.7 cm × 2.4 cm and 2.6 cm× 2.0 cm respectively.The patient achieved stable disease six months later (to 2.4 cm × 1.4 cm and 2.0 cm × 1.8 cm respectively) and partial remission one year later (to 1.8 cm × 1.0 cm and fibrosis respectively).Currently the patient has been under sorafenib treatment for 52 months.The pulmonary lesions were nearly replaced by fibrosis and calcification.Totally six case reports were found through PubMed including nine patients with ESRD and mRCC.The best objective response was partial response in three cases,stable disease in four cases and unknown in the other two cases.Sorafenib was generally well tolerated.Conclusion Treatment of patients with metastatic renal cell carcinoma undergoing hemodialysis with sorafenib appears to be feasible.

Biotherapy is an effective treatment strategy for advanced renal cell carcinoma. Cytokine-based biotherapy with interleukin-2 and interferon-? is the first line treatment for renal cell carcinoma, but its response rate is still low and toxicity and side effects are relatively high. Among preclinical biotherapy approaches for renal cell carcinoma, targeted therapy is a promising measure and some new drugs will be used as first line treatment for renal cell carcinoma in near future, allogeneic stem cell transplantation and vaccination are effective for selected subset of patients but are necessary to be evaluated by phase Ⅲ clinical studies, adoptive immunotherapy and gene therapy need to establish the benefit and safe by further studies.

Objective To make use of the characteristics of presenting and processing tumor antigen of dendritic cells to enhance killing capability of CTLs against autologous renal cell carcinoma. Methods Autologous dendritic cells were obtained by culturing bone marrow cell from patient with RCC in the presence of granulocyte macrophage colony stimulating factor(GM CSF) and IL 4. Dendritic cells were loaded with tumor cell lysate and co cultured with autologous PBMCs from patient to induce generation of tumor specific cytotoxic T cells(CTL). Killing activity and cytokine release of the CTL and the population of CTL were measured by cytotoxic assay and ELISA and FACS analyses. Results Immune response of DC Tuly induced CTL was demonstrated by the following facts:(1)the growth expansion of CTL enhanced 43 folds on day 16;(2)up regulation of the CD3 + and CD8 + population in CTL;(3)the cytotoxicity of specific CTL against autologous RCC was highly enhanced as compared with allogenic RCC and heterogenous tumor( P

Objective To establish human renal cell carcinoma (RCC) cell lines,and to investigate the cell phenotypes and expression of tumor associated antigens. Methods Fresh tumor tissues from pathologically proven human RCCs were primary cultured and passed generation to generation until a stably grow in vitro.The cell cloning form,chromosome and graft into nude mice in vivo were examined for cell lines.Immunofluorescent stain and flow cytometric analysis were carried out for cell's phenotype,RT PCR examination for MN/CA9 gene expression. Results Six human RCC cell lines have been established,including four of the cell lines derived from clear cells,one from mixed clear granular cells and one from papillary cells.All the cell lines showed the characteristics of malignant cells.All the lines highly expressed HLA ClassⅠ and HER2/neu.Three lines weakly expressed HLA ClassⅡ and one cell line highly expressed CD86 but all the lines did not express CD80.RT PCR showed that three cell lines have the expression of MN/CA9 gene. Conclusions These newly established RCC cell lines would provide a useful in vitro model for studies related to biological characteristics,tumor associated antigen,immunogenity and immunotherapy of human RCC.

ObjectiveTo provide experimental proof for the specific immunotherapy in patients with renal cell carcinoma (RCC).MethodsThe expression of c-erbB-2 and HLA-A2 molecules in RCC were examined by flow cytometery and HLA-A2 cDNA RT-PCR.Tumor lysatic antigens (Tuly) was used to load DCs (DC-Tuly) to induce the generation of c-erbB-2 specific CTLs derived from peripheral blood mononuclear cells of RCC patients in vitro and CTLs was used to kill RCC cells which express or not express c-erbB-2 and HLA-A2.The cytotoxic activity of induced CTLs was further studied by antibodies (anti-c-erbB-2 and anti-CD 8) blocking assay.Resultsc-erbB-2 protein is tumor associated antigens for RCC.DC-Tuly induced specific CTLs highly killed c-erbB-2+ HLA-A2+ autologous and allogenic RCC,but non-specific ones lowly killed c-erbB-2- HLA-A2+ or c-erbB-2+ HLA-A2-RCC cells. The cytotoxic activity against tumor cells was blocked by anti-c-erbB-2 and anti-CD 8 monoclonal antibodies.ConclusionsThese results suggest that this specific CTLs adoptive immunotherapy for RCC patients with c-erbB-2+ HLA-A2+ could be a novel approach for clinical use.

Objective To probe the classification of diabetic retinopathy (DR) and the different grade of diabetic and type of macular edema according to fundus fluorescein angiography (FFA). Methods FFA was performed on 1 058 patients (2 097 eyes) to classify DR and macular edema with the analysis of duration of DM, visual acuity, manifestation of FFA images and results of ophthalmoscopic examination. Results In 2 097 eyes, there were 124 (5. 9%) without DR, 396 (18. 9%) with DR I, 430 (20. 5%) with DR II, 563 (26.8%) with DR III, 262 (12. 5%) with preproliferative diabetic retinopathy ( PPDR), 254 (12.%) with DR IV, 60 (2. 9%) with DR V, and 8 (0. 4%) with DR VI. In 2 097 eyes there were 819 (39. 1%) with macular edema, including 311 (38%) with focal macular edema, 322 (39. 3%) with diffused macular edema, 112 (13. 7%) with cystoid macular edema, 25 (3. 1%) with ischemia macular edema, and 49 (6. 0%) with proliferative macular edema. Conclusion With the analysis of the results of FFA of 2 097 eyes, we classify DR in stage Ⅰ (primary stage Ⅰ and Ⅱ), Ⅱ (primary stage Ⅲ), Ⅲ (preproliferative diabetic retinopathy), Ⅳ,Ⅴ, and Ⅵ; classify macular edema of DR in focal, diffused, cystoid, ischemic, and proliferating ones.

Objective To discuss the diagnosis and outcome of multilocular cystic renal cell car-cinoma. Methods The clinic data of 1 case of multilocular cystic renal cell carcinoma were reviewed with its clinical manifestation, imaging, pathology and therapy in our hospital. The male patient aged 49 was incidentally found to have a right renal tumor. The CT scan showed a multiloeular cystic tumor in the low pole of the right kidney with a clear outline. The thin septa were found in the tumor, which were enhanced in the enhancement CT scan. The enhancement MRI showed the cystic wall was en-hanced. Results The patient received a partial nephrectomy as his treatment. The pathological char-acteristics were as following: the multilocular cystic tumor was about 3 cm×2 cm×2 cm with clear serosity in it. The cystic wall was smooth with the width of 0.1-0.2 cm. Most of the cystic cavities were covered by monostratified or stratified cubic clear cells, and some were covered by squamous epi-thelium or no epithelium at all. The septum was composed of collagen fiber, and clear cells were found in it. The clear cells form small collections but do not form expansile nodules. The final pathological diagnosis was multilocular cystic renal cell carcinoma. The follow-up was 20 months, without local re-currence or distant metastasis was found. Conclusions Multilocular cystic renal cell carcinoma (MCRCC) is a rare variant of renal cell carcinoma with a good prognosis. MCRCC is an uncommon tumor of the kidney composed of multiple cysts with clear cells in the septa indistinguishable from grade I renal cell carcinoma. Most patients are asymptomatie and the tumors are discovered inciden-tally. The preoperative diagnosis of MCRCC immediately depends on imaging studies. Pathology is the key to diagnosis.

Objective To discuss the diagnosis and outcome of adult endodermal sinus tumor oftestis.Methods The clinic data of 6 cases of adult endodermal sinus tumor of testis were reviewed.The patients' average age was 28 years.Five patients complained of an asymptomatic scrotal mass and1 patient complained of the pain of cryptorchidism.All patients received radical orchiectomy as initialtreatment.Pathology results suggested 2 patients with stage Ⅰ disease,3 patients with stage Ⅱ diseaseand 1 patient with stage Ⅲ disease.All were treated with chemotherapy or radiotherapy following rad ical orchiectomy.Retroperitoneal lymph node dissection(RPLND)was performed in Ⅰ case with stageⅡ disease.Results Six cases of adult endodermal sinus tumor of testis were confirmed by patholo gy.Five patients were followed up for 1.5 year to 8 years,no local recurrence and distant metastasiswere found.Conclusions Adult endodermal sinus tumor is a rare neoplasm of the germinal cell line.Pathological examination is the key to diagnosis.Postoperative combination chemotherapy and radio therapy are the most common means of this disease.

Objective To establish the methods for neonatal screening of glucose 6 phosphate dehydrogenase (G6PD) deficiency. Methods G6PD activity was measured by using fluorescence spot test (FST) with the dry blood sample on the filter paper for neonatal screening. G6PD/6PGD rate test of venous blood samples was further performed for confirmation. Results The positive G6PD deficiency rate was 4.2% and its detection rate was 3.7% in FST for neonatal screening. The conformation rate of FST with G6PD/6PGD rate test for G6PD deficiency was 86.8% and 100% particularly in severe deficiency groups. Both sensitivity and specificity were very high in severe deficiency groups. Conclusions FST is used in neonatal screening of G6PD deficiency because of its high accuracy, applicability, and simplicity Morover, it can test lots of dry blood samples on the filter paper. It is very favorable to diagnose and treat G6PD deficiency early in high incidence districts.