Personalized medicine has revolutionized patients ′care, and results in a personalized drug choice and dosage, through integration of pharmacology , drug information and individual ′s genetics information.The genetic testing for genes involved in drug metabolisms and targets become more and more important.However, the variety of the tests as well as the complexity of the technology brought great challenges in laboratory managements and quality assurance for individual clinical laboratory .This article briefly described the development status of pharmacogenomics and focused mainly on the routine quality assurance principle for four different techniques adopted by related genetic testing , and then presented recent research progression of related reference materials in genetic testing .Finally, the author prospects briefly the future development aspect of the quality control system .

Benefit from the completion of human genome project and the rapid development of bioinformatics,the clinical molecular diagnostics continues to expand its scope of application which involves more widely use in infectious diseases,genetic diseases and tumors and other aspects.In the clinical molecular diagnostics,the application of international standard materials could effectively guarantee the quality of laboratory tests.This paper reviews the research progress in well-established international standard materials used for molecular diagnosis.

Objective To evaluate the clinical significance and the mechanism of immunotherapy with autologous tumor vaccine. Methods 400 patients with pathological diagnosis of malignant tumor were enrolled in this study. 5 days after operation, the patients received vaccination of autologous tumor vaccine every 2-3 days for 5 times. 3 days before and 7 days after administrations, the peripheral blood mononuclear cells (PBMC) were isolated to assay the alteration in the proportions of CD3,CD4,CD8,CD4/CD8, and NK cells. Meanwhile, serum IL-2 and IFN-? were measured. Results After active immunotherapy with autologous tumor vaccine, the proportions of CD4 and CD4/CD8 were significantly elevated, while the proportion of CD8 and NK showed no difference. All the patients tolerated the vaccine well without serious side effects, such as skin ulceration. Conclusion The autologous tumor vaccine can elicit specific cellular immune response, and may be a potential approach to treat the cancer.

Objectives To study the characteristics of VEGFR-3, podoplanin or CD34 positive vessels in colorectal cancer (CRC) and their correlation with metastasis. Methods The characteristics of VEGFR-3, podoplanin or CD34 positive vessels in 96 cases with CRC and normal mucosa were evaluated by single-labeling or double-labeling immunohistochemistry with anti-human VEGFR-3, podoplanin or CD34 antibody respectively, and their relationship with metastasis of the cancer was analyzed. Results The density of VEGFR-3, podoplanin or CD34 positive vessels at the peripheral region of CRC was significantly higher than that of other regions of CRC or that in normal mucosa (P

Purpose To report the c1inicopatho1ogica1 characteristics,diagnosis and differentia1 diagnosis of extranoda1 fo11icu1ar den-dritic ce11 sarcoma( FDCS)of the pharyngea1 region. Methods The c1inica1 features,histopatho1ogica1 changes and immunohisto-chemica1 findings were ana1yzed in three cases of FDCS with review of the re1ated 1iterature. Results Case 1,a 70-year-o1d man pres-ented with the comp1aint of a pain1ess mass in pharyngea1 region accompanied by shortness of breath for the past 2 months. Case 2,a 40-year-o1d woman presented with the comp1aint of pharyngea1 foreign body sensation and b1oody sputum for the past 1 month. Case 3, a 38-year-o1d man presented with the comp1aint of intermittent epistaxis for the past 2 months. 3 cases showed simi1ar morpho1ogies:the neop1astic ce11s were ovoid to spind1e-shaped,with indistinct ce11 borders,dispersed granu1ar chromatin,and scattered sma11 nuc1e-o1i. Notab1y,severa1 nuc1ear inc1usions were identified,and rare binuc1ear and mu1tinuc1eated ce11s were a1so present. There were main1y 3 kinds of growth patterns in the tumors:diffuse sheets,fascic1es,and storiform arrangements admixed with sma11 1ymphocytes, which sometimes gathered into a mass. Immunohistochemica11y,tumor ce11s( 3/3 )were strong1y and diffuse1y positive for fo11icu1ar dendritic ce11 markers CD21,CD23 and CD35. Tumor ce11s(3/3)were a1so diffuse1y positive for fascin and D2-40. Some tumor ce11s (1/3)were diffuse1y positive for CXCL-13. Ki-67 pro1iferation index was estimated at 6%-20%. Conclusions Extranoda1 FDCS of the pharyngea1 region is rare and misdiagnosis is frequent1y made. A comprehensive eva1uation of c1inica1 manifestations,patho1ogic features and immunohistochemica1 findings are essentia1 for definitive diagnosis.

Objective To investigate the relationship between hypoxia and stemness of cancer stem cells ( CSCs ) . Methods U87 cells,U251 cells and primary glioma cells were experienced hypoxia. Detected the ultrastructure of these cancer cells with transmission elec-tron microscopy;detect the cell growth with MTT assay;cell cycle and CD133 expression were detected by flow cytometry;and the cell mi-gration ablity were detected through transwell chamber assay;the colony-forming efficiency were deteced by colony-forming assay; and real-time quantitative PCR and Western blot were carried out to detect the mRNA and protein expression of markers of stem cells and their differ-entiation respectively. Results Hypoxia maintained the undifferentiated state of primary glioma cells, slowed down the growth of glioma cells which were in a relatively quiescent stage, increased the colony forming efficiency and migration of glioma cells, and increased the expression of markers of stem cells, but the expression of markers for stem cell differentiation was reduced after hypoxia treatment. Conclusion Hypoxi-a may induce the “dedifferentiation” of differentiated glioma cells which then acquire the stemness.

Objective To explore the clinicopathological features ,diagnosis and differential diagnosis of pleuropulmonary blasto-ma(PPB) .Methods A case of PPB was reported by light microscopic observation ,immunohistochemistry and molecular pathology study with review of related literature .Results A 45-year-old female was admitted to the hospital because of cough and dyspnea . Chest radiogram revealed a solid mass in the left lung .Grossly ,the tumor was described as a firm lesion with lumina or multicystic components and well-circumscribed margins .Microscopically ,the tumor was composed of sheets of malignant primitive small cells and fascicles of embryonal rhabdomyosarcoma-like cells with foci hyalinized stroma .Beneath the benign epithelium ,the primitive mesenchymal cells showed as mixed blastematous and sarcomatous characteristics that plump spindle shaped cells presented poor differention with abundant eosinophilic cytoplasms and brisk mitotic activities .Immunohistochemically ,vimentin and MyoD-1 were positive in malignant small cells but some epithelial markers are negative .Meanwhile ,K-RAS extron 3 mutation was detected by high resolution melting analysis(HRMA) .Conclusion Pleuropulmonary blastoma(PPB) is a rare malignant tumor with unique clinicopathological features .It should be distinguished from some mimics such as pulmonary blastoma and embryonal rhabdomyo-sarcoma .

Background and purpose: Extraskeletal myxoid chondrosarcoma (EMC) is a malignancy of uncertain differentiation tumor characterized by a multinodular structure and abundant myxoid matrix. Its preferred sites were the deep soft tissues of the extremities. The aim of this study was to investigate the clinicopathologic characteristics, diagnosis and differential diagnosis of EMC. Methods: Seven cases of EMC were analyzed for clinicopathological and immunohistochemical features with review of the related literature. Results: It occurred predominantly in females (male/female=2︰5). Five cases were located in low extremities and two in upper limb girdles, more commonly near the joint. Grossly, the masses showed as grey, lobular and somewhat transparent with a relatively well-deifned margin. Microscopically, the small ovary or plump spindle-shaped cells arranged in strand and cord patterns and lobular architecture which separated by delicate fibrous networks with an abundant myxoid but hypovascular background. And the tumors were immunoreactive for vimentin, and partly for S-100 and EMA, meanwhile, negative for CK. Conclusion:EMC is a rare soft tissue sarcoma with distinctive histopathological features. It should be distinguished from some mimics especially those tumors with a myxoid stroma or chondroid differentiation, such as chordoma and chondrosarcoma.

Gene detection related to tumor targeted therapy, pharmacogenomics, birth defects area is now widely used in clinical laboratories with the introduction of"precision medicine"concept.As next-generation-sequencing and digital PCR technology get to clinical application quickly, clinical medical decision is highly dependent on molecular diagnosis test results, therefore, the requirements for tests accuracy is unprecedented.However,the continuous development and fast expansion of molecular diagnosis technology brings outstanding quality problems.Its quality management also faces new challenges, which deserve the attention of medical laboratories and regulation bureaus.

Objective To study the effect of caffeic acid phenethyl ester (CAPE) on the expression of ?-catenin in the cultured colorectal cancer cell lines. Methods HCT116 and W480 cells were treated with CAPE at serial concentrations of 2.5, 5, and 10 mg/L. ?-catenin protein expression was assayed by Western blot analysis. ?-catenin localization was detected by indirect immunofluorescence. Results CAPE treatment was associated with decreased total ?-catenin protein expression. The expression of ?-catenin at the cell nucleus and cytoplasm was downregulated, but at the cell-cell linked site the ?-catenin protein expression was upregulated. Conclusion CAPE can downregulate the expression of ?-catenin and inhibit the translocation of ?-catenin to nucleus, which may play an important role in the anticancer activity of CAPE.