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| 1 | Pharmacogenetics of the systemic treatment in advanced hepatocellular carcinoma显示文摘Hepatocellular carcinoma (HCC) accounts for the majority of primary liver cancers. To date, most patients with HCC are diagnosed at an advanced tumor stage, excluding them from potentially curative therapies (i.e., resection, liver transplantation, percutaneous ablation). Treatments with palliative intent include chemoembolization and systemic therapy. Among systemic treatments, the small-molecule multikinase inhibitor sorafenib has been the only systemic treatment available for advanced HCC over 10 years. More recently, other smallmolecule multikinase inhibitors (e.g., regorafenib, lenvatinib, cabozantinib) have been approved for HCC treatment. The promising immune checkpoint inhibitors (e.g., nivolumab, pembrolizumab) are still under investigation in Europe while in the US nivolumab has already been approved by FDA in sorafenib refractory or resistant patients. Other molecules, such as the selective CDK4/6inhibitors (e.g., palbociclib, ribociclib), are in earlier stages of clinical development, and the c- MET inhibitor tivantinib did not show positive results in a phase III study. However, even if the introduction of targeted agents has led to great advances in patient response and survival with an acceptable toxicity profile, a remarkable inter-individual heterogeneity in therapy outcome persists and constitutes a significant problem in disease management. Thus, the identification of biomarkers that predict which patients will benefit from a specific intervention could significantly affect decision-making and therapy planning. Germ-line variants have been suggested to play an important role in determining outcomes of HCC systemic therapy in terms of both toxicity and treatment efficacy. Particularly, a number of studies have focused on the role of genetic polymorphisms impacting the drug metabolic pathway and membrane translocation as well as the drug mechanism of action as predictive/prognostic markers of HCC treatment. The aim of this review is to summarize and critically discuss the pharmacogenetic literature evidences, with particular attention to sorafenib and regorafenib, which have been used longer than the others in HCC treatment. | Elena De Mattia Erika Cecchin Michela Guardascione Luisa Foltran Tania Di Raimo Francesco Angelini Mario D’Andrea Giuseppe Toffoli | 2019 | World Journal of Gastroenterology2019，25，29： | 8 |
| 2 | Pharmacogenetics of ABC and SLC transporters in metastatic colorectal cancer patients receiving first-line FOLFIRI treatment显示文摘 | Elena De Mattia Giuseppe Toffoli Jerry Polesel Mario D’Andrea Giuseppe Corona Vittorina Zagonel Angela Buonadonna Eva Dreussi Erika Cecchin | 2013 | Pharmacogenetics and Genomics2013，，10： | 2 |
| 3 | Diabetic endothelial dysfunction:effect of free radical scavenging in Type 2 diabetic patients显示文摘 | De Mattia G Laurenti O Fava D | 2003 | J Diabetes Complications2003，，： | 1 |
| 4 | Diabetic endothelial dysfunction Effect of free radical scavenging in Type 2 diabetic patients显示文摘 | Giancarlo De Mattia O Laurenti and D Fava | 2003 | J Diabetes and its Complications2003，17，2： | 1 |
| 5 | Association of interleukin-(IL)10 haplotypes and serum IL-10 levels in the progression of childhood immune thrombocytopenic purpura显示文摘 | Tesse R Del Vecchio G C De Mattia D | 2012 | Gene2012，505，1： | 1 |
| 6 | Diabetic endothelial dysfunction: effect of free radical scavenging in Type 2 diabetic patients显示文摘 | De Mattia G Laurenti O Fava D | 2003 | J Diabetes Complications2003，17，： | 1 |
| 7 | Management of chronic childhood immune thrombocytopenic purpura: AIEOP consensus guidelines 显示文摘 | De Mattia D Del Vecchio GC Russo G | 2010 | Acta Haematol2010，123，2： | 1 |
| 8 | Association of inter- leukin- (IL) 10 haplotypes and serum IL-10 levels in the progres- sion of childhood immune thrombocytopenic purpura 显示文摘 | Tesse R Del Vecchio G C de Mattia D | 2012 | Gene2012，505，1： | 1 |
| 9 | Bone marrow transplantation in a case of severe,type Ⅱ congenital dyserythropoietic anaemia(CDA Ⅱ)显示文摘 | Iolascon A Sabato V de Mattia D | | 0，，： | 1 |
| 10 | Yon Wille- brand factor and factor ⅩⅢ in children with Henoch-Sehon- lein purpura 显示文摘 | DE MATtIA D PENZA R GIORDANO P | 1995 | Pediatr Nephrol1995，9，5： | 1 |
| 11 | Cell-biologic and functional analyses of five new aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus显示文摘 | Marr N Bichet DG Hoefs S Savelkoul PJ Konings IB De Mattia F Graat MP Arthus MF Lonergan M FujiwaraTM Knoers NV Landau D Balfe WJ Oksche A Rosenthal W Muller D Van Os CH Deen PM | 2002 | J Am Soc Nephrol2002，13，9： | 1 |
| 12 | Von Willebrand factor and factor ⅩⅢ in children with Henoch-Schonlein purpura显示文摘 | De Mattia D Penza R Giordano P | 1995 | Pediatr Nephrol1995，9，5： | 1 |
| 13 | Association of interleukin-(IL) 10 haplotypes and serum IL-10 levels in the pro- gression of childhood immune thrombocytopenic purpura 显示文摘 | Tesse R Del Vecchio G C De Mattia D | 2012 | Gene2012，505，1： | 1 |
| 14 | yon Willebrand factor and factor XIII in children with Henoch-Schonlein purpura显示文摘 | De Mattia D Penza R Giordano P el al | 1995 | Pediatr Nephrol1995，9，5： | 1 |
| 15 | Von Willebrand factor and factor ⅩⅢ in children with Henoch-Schonlein purpura显示文摘 | De Mattia D Penza R Giordano P | 1995 | Pediatr Nephrol1995，9，5： | 1 |
| 16 | Correlation of molecular alterations with pathological features in hepatocellular carcinoma:Literature review and experience of an Italian center显示文摘Hepatocellular carcinoma(HCC)represents the primary carcinoma of the liver and the fourth leading cause of cancer-related deaths.The World Health Organization estimates an increase in cases in the coming years.The risk factors of HCC are multiple,and the incidence in different countries is closely related to the different risk factors to which the population is exposed.The molecular mechanisms that drive HCC tumorigenesis are extremely complex,but understanding this multistep process is essential for the identification of diagnostic,prognostic,and therapeutic markers.The development of multigenic nextgeneration sequencing panels through the parallel analysis of multiple markers can provide a landscape of the genomic status of the tumor.Considering the literature and our preliminary data based on 36 HCCs,the most frequently altered genes in HCCs are TERT,CTNNB1,and TP53.Over the years,many groups have attempted to classify HCCs on a molecular basis,but a univocal classification has never been achieved.Nevertheless,statistically significant correlations have been found in HCCs between the molecular signature and morphologic features,and this leads us to think that it would be desirable to integrate the approach between anatomic pathology and molecular laboratories. | Thais Maloberti Antonio De Leo Viviana Sanza Elisa Gruppioni Annalisa Altimari Mattia Riefolo MichelaVisani Deborah Malvi Antonia D’Errico Giovanni Tallini Francesco Vasuri Dario de Biase | 2022 | World Journal of Gastroenterology2022，28，25： | 0 |
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