Personalized treatment of perihilar cholangiocarcinoma based on tumor genetic and molecular characteristics

This editorial discusses the article written by Tchilikidi et al that was published in the latest edition of the World Journal of Gastrointestinal Surgery.Genetic and molecular profiling of perihilar cholangiocarcinoma(pCCA)has identified a number of key abnormalities that drive tumor growth and spread,including pyruvate kinase M2,proline rich 11,and transcription factor 7,etc.pCCA has specific genetic and molecular features that can be used to develop personalized treatment plans.Personalized treatment approaches offer new opportunities for effectively targeting the underlying drivers of tumor growth and progression.The findings based on tumor genetic and molecular characteristics highlight the importance of developing personalized treatment strategies.

Effect of hepatitis C virus infection on expression of several cancer-associated gene products in hepatocellular carcinoma

AIM To study hepatocarcinogenesis of hepatitis C virus (HCV). METHODS Expression of HCV antigens (CP10, NS3 and NS5) and several cancer associated gene products (ras p21, c myc, c erbB 2, mutated p53 and p16 protein) in the tissues of hepatocellular carcinoma (HCC, n =46) and its surrounding liver tissue were studied by the ABC (avidin biotin complex) immunohistochemical method. The effect of HCV infection on expression of those gene products in HCC was analyzed by comparing HCV antigen positive group with HCV antigen negative group. RESULTS Positive immunostaining with one, two or three HCV antigens was found in 20 (43 5%) cases, with either of two or three HCV antigens in 16 (34 8%) cases, and with three HCV antigens in 9 (19 6%) cases. Deletion rate of p16 protein expression in HCC with positive HCV antigen (80%, 16/20) was significantly higher than that in HCC with negative HCV antigen. Whereas no significant difference of the other gene product expression was observed between the two groups. CONCLUSION HCV appears related to about one third of cases of HCC in Chongqing, the southwest of China, and it may be involved in hepatocarcinogenesis by inhibiting the function of p16 gene, which acts as a negative regulator of cell cycle.

Identification of mutation in a candidate gene for hereditary multiple exostoses type Ⅱ

Objectives To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type Ⅱ (EXT2) in affected members of EXT families so as to confirm that it is the disease causing gene. Methods The mutation was detected first by single strand conformational polymorphism(SSCP) of all coding exons of the candidate gene and then by sequencing analysis. Results After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2 bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids. Conclusions The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease causing gene of EXT).