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Trends in incidence and management of cancer of the ampulla of Vater

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World Journal of Gastroenterology 2014年第29期20卷 10144-10150页

作者： Florian Rostain Samia Hamza Antoine Drouillard jean faivre anne-marie bouvier C?me lepage Registre Bourguignon des Cancers Digestifs INSERM U866CHU de DijonFaculté de Médecine21079 Dijon CedexFrance

AIM: To provide trends in incidence, management and survival of cancer of the ampulla of Vater in a well-defined French population.

关键词： Cancer of the ampulla of Vater Incidence Survival Treatment Epidemiology

Disease control with sunitinib in advanced intrahepatic cholangiocarcinoma resistant to gemcitabine-oxaliplatin chemotherapy

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World Journal of Hepatology 2015年第6期7卷 910-915页

作者： Chantal Dreyer marie-Paule Sablin Mohamed Bouattour Cindy Neuzillet Maxime Ronot Safi Dokmak Jacques Belghiti Nathalie Guedj Valérie Paradis Eric Raymond Sandrine faivre Department of Medical Oncology Beaujon University Hospital (AP-HP-PRES Paris 7 Diderot) Department of Hepatology Beaujon University Hospital (AP-HP - PRES Paris 7 Diderot) Department of Imaging Beaujon University Hospital (AP-HP - PRES Paris 7 Diderot) Department of Biliary and Pancreatic Surgery Beaujon University Hospital (AP-HP - PRES Paris 7 Diderot) Department of Pathology Beaujon University Hospital (AP-HP - PRES Paris 7 Diderot)

Advanced cholangiocarcinoma is associated with poor prognostic survival and has limited therapeutic options available at present. The importance of angiogenesis and expression of pro-angiogenic factors in intrahepatic forms of cholangiocarcinoma suggest that therapies targeting angiogenesis might be useful for the treatment of this disease. Here we report three cases of patients with advanced intrahepatic cholangiocarcinoma progressive after standard chemotherapy and treated with sunitinib 50 mg/d in 6-wk cycles of 4 wk on treatment followed by 2 wk off treatment(Schedule 4/2). In all three patients, sunitinib treatment was associated with a sustained disease control superior to 4 mo, patients achieving either a partial response or stable disease. A reduction in tumor size and density was observed in all cases, suggesting tumor necrosis as a result of sunitinib treatment in these patients. In addition, sunitinib was generally well tolerated and the occurrence of side effects was managed with standard medical interventions, as required. Our results suggest that sunitinib therapy maybe associated with favorable outcomes and tolerability in patients with advanced cholangiocarcinoma. Those observations contributed to launch a prospective phase Ⅱ multicenter trial investigating sunitinib in advanced intrahepatic cholangiocarcinoma(SUN-CK study; NCT01718327).

关键词： Biliary tract tumors Antiangiogenic therapy Hypodensity Tumor response Vascular endothelialgrowth factor receptor inhibitors Chemoresistance

Building a cluster of NLR genes conferring resistance to pests and pathogens: the story of the Vat gene cluster in cucurbits

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Horticulture Research 2021年第1期8卷 899-910页

作者： Veronique Chovelon Rafael Feriche-Linares Guillaume Barreau Joel Chadoeuf Caroline Callot Veronique Gautier marie-Christine Le Paslier Aurelie Berad Patricia faivre-Rampant Jacques Lagnel Nathalie Boissot INRAE GAFL84143 MontfavetFrance INRAE CNRGV31326 Castanet-TolosanFrance INRAE GDEC-Gentyane Plateform63000 Clermont-FerrandFrance Universite Paris-Saclay INRAEEPGV91000 Evry-CourcouronnesFrance

Most molecularly characterized plant resistance genes(R genes)belong to the nucleotide-binding-site-leucine-rich-repeat(NLR)receptor family and are prone to duplication and transposition with high sequence *** this family,the Vat gene in melon is one of the few R genes known for conferring resistance to insect,i.e.,Aphis gossypii,but it has been misassembled and/or mispredicted in the whole genomes of *** examined 14 genomic regions(about 400 kb)derived from long-read assemblies spanning Vat-related genes in Cucumis melo,Cucumis sativus,Citrullus lanatus,Benincasa hispida,Cucurbita argyrosperma,and Momordica *** built the phylogeny of those *** the paleohistory of the Vat gene cluster,we revealed a step by step process beginning from a common ancestry in cucurbits older than 50 *** highlighted Vat exclusively in the Cucumis genera,which diverged about 20 my *** then focused on melon,evaluating a minimum duplication rate of Vat in 80 wild and cultivated melon lines using generalist primers;our results suggested that duplication started before melon *** phylogeny of 44 Vat-CDS obtained from 21 melon lines revealed gain and loss of leucine-rich-repeat domains along ***,we revealed the high putative recognition scale offered in melon based on a combination of SNPs,number of leucine-rich-repeat domains within each homolog and number of homologs within each cluster that might jointly confer resistance to a large pest and pathogen *** on our findings,we propose possible avenues for breeding programs.

关键词： NLR cluster resistance

PIK3CA基因相关过度生长综合征群的诊治规范:国际专家共识

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临床儿科杂志 2023年第11期41卷 875-880页

作者：周清李辛刘晖常国营徐敏王剑顾松王秀敏(译) Sofia Douzgou Myfanwy Rawson Eulalia Baselga Moise Danielpour Laurence faivre Alon Kashanian Kim M Keppler-Noreuil Paul Kuentz Grazia M S Mancini marie-Cecile Maniere Victor Martinez-Glez Victoria E Parker Robert K Semple Siddharth Srivastava Pierre Vabres marie-Claire Y De Wit John M Graham Jr Jill Clayton-Smith Ghayda M Mirzaa Leslie G Biesecker 福建省儿童医院(上海儿童医学中心福建医院) 福建医科大学妇儿临床医学院内分泌遗传代谢科福建福州350000 上海交通大学医学院附属上海儿童医学中心内分泌代谢科医学遗传科上海200127 上海交通大学医学院附属上海儿童医学中心普外科上海200127 上海交通大学医学院附属上海儿童医学中心遗传分子诊断科上海200127 不详

PIK3CA基因激活突变所导致的一系列发育障碍表型谱被统称为PIK3CA基因相关过度生长综合征群(PIK3CA-related overgrowth spectrum,PROS)。临床表现分型众多,各型分类见表1A。由于基因变异发生在受精卵形成后,临床表型为嵌合体,因此PIK3C... 详细信息

PIK3CA基因激活突变所导致的一系列发育障碍表型谱被统称为PIK3CA基因相关过度生长综合征群(PIK3CA-related overgrowth spectrum,PROS)。临床表现分型众多,各型分类见表1A。由于基因变异发生在受精卵形成后,临床表型为嵌合体,因此PIK3CA基因变异在外周血中的阳性检出率很低,通常需要非血液标本或通过组织活检来发现超低频嵌合体。PIK3CA基因激活变异的作用为促生长,变异导致的表型取决于基因变异发生的时间、组织细胞类型、变异细胞的分布以及变异的激活强度。

关键词：组织活检过度生长基因变异诊治规范临床表型发育障碍细胞类型嵌合体