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Detection of KRAs G12D in colorectal cancer stool by droplet digital PCR

World Journal of Gastroenterology 2017年第39期23卷 7087-7097页

作者： susana Olmedillas-López Dennis César Lévano-Linares Carmen Laura Aúz Alexandre Luz Vega-Clemente edurne león sánchez Alejandro Villagrasa Jaime Ruíz-Tovar Mariano García-Arranz Damián García-Olmo Foundation Health Research Institute-Fundación Jiménez Díaz University Hospital Department of surgery School of Medicine Universidad Autónoma de Madrid Department of surgery Rey Juan Carlos University Hospital Department of Pathology Fundación Jiménez Díaz University Hospital Department of Biomedicine and Biotechnology Universidad de Alcalá Department of surgery Fundación Jiménez Díaz University Hospital

AIMTo assess KRAs G12D mutation detection by droplet digital PCR (ddPCR) in stool-derived DnA from colorectal cancer (CRC) *** this study, tumor tissue and stool samples were collected from 70 patients with stage I-IV CRC diagnosed by preoperative biopsy. KRAs mutational status was determined by pyrosequencing analysis of DnA obtained from formalin-fixed paraffin-embedded (FFPE) tumor tissues. The KRAs G12D mutation was then analyzed by ddPCR in FFPE tumors and stool-derived DnA from patients with this point mutation. Wild-type (WT) tumors, as determined by pyrosequencing, were included as controls; analysis of FFPE tissue and stool-derived DnA by ddPCR was performed for these patients as *** the total 70 patients included, KRAs mutations were detected by pyrosequencing in 32 (45.71%), whereas 38 (54.29%) had WT tumors. The frequency of KRAs mutations was higher in left-sided tumors (11 located in the right colon, 15 in the left, and 6 in the rectum). The predominant point mutation was KRAs G12D (14.29%, n = 10), which was more frequent in early-stage tumors (I-IIA, n = 7). In agreement with pyrosequencing results, the KRAs G12D mutation was detected by ddPCR in FFPE tumor-derived DnA, and only a residual number of mutated copies was found in WT controls. The KRAs G12D mutation was also detected in stool-derived DnA in 80% of all fecal samples from CRC patients with this point *** is a reliable and sensitive method to analyze KRAs G12D mutation in stool-derived DnA from CRC patients, especially at early stages. This non-invasive approach is potentially applicable to other relevant biomarkers for CRC management.

关键词： Droplet digital PCR KRAs stool Formalin-fixed paraffin-embedded Pyrosequencing Colorectal cancer

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Approach to early-onset colorectal cancer:Clinicopathological,familial,molecular and immunohistochemical characteristics

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World Journal of Gastroenterology 2010年第29期16卷 3697-3703页

作者： Jose Perea edurne Alvaro Yolanda Rodríguez Cristina Gravalos Eva sánchez-Tomé Barbara Rivera Francisco Colina Pablo Carbonell Rogelio González-sarmiento Manuel Hidalgo Miguel Urioste Department of surgery Hospital Universitario 12 de Octubre Department of Pathology Hospital Universitario 12 de Octubre Medical Oncology Hospital Universitario 12 de Octubre Human Genetics Group Human Cancer Genetics ProgramSpanish National Cancer Centre Molecular Genetics Unit Centro de Bioquímicay Genética ClínicaHospital Virgen de la Arrixaca Department of Medicine Medicine SchoolSalamanca University

AIM:To characterize clinicopathological and familial features of early-onset colorectal cancer(CRC) and compare features of tumors with and without microsatellite instability(MsI).METHODs:Forty-five patients with CRC aged 45 or younger were included in the *** information,a three-generation family history,and tumor samples were *** status was analyzed and mismatch repair genes were examined in the MsI *** were included in a tissue microarray and an immunohistochemical study was carried out with a panel of selected ***:Early onset CRC is characterized by advanced stage at diagnosis,right colon location,low-grade of differentiation,mucin production,and presence of *** forms represent at least 21% of ***-one percent of patients who died during followup showed a lack of expression of cyclin E,which could be a marker of poor prognosis.β-catenin expression was normal in a high percentage of ***:Early-onset CRC has an important familial component,with a high proportion of tumors showing microsatellite *** E might be a poor prognosis factor.

关键词： Early onset colorectal cancer Microsatellite instability Lynch syndrome Microsatellite stable colorectal cancer

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Is there a role for epidermal growth factor receptor tyrosine kinase inhibitors in epidermal growth factor receptor wildtype non-small cell lung cancer?

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World Journal of Clinical Oncology 2015年第4期6卷 45-56页

作者： edurne Arriola lvaro Taus David Casadevall Oncology Department Hospital del Mar

non-small cell lung cancer(nsCLC) is the most common type of lung cancer with a world-wide annual incidence of around 1.3 million. The majority of patients arediagnosed with advanced disease and survival remains poor. However, relevant advances have occurred in recent years through the identification of biomarkers that predict for benefit of therapeutic agents. This is exemplified by the efficacy of epidermal growth factor receptor(EGFR) tyrosine kinase inhibitors for the treatment of EGFR mutant patients. These drugs have also shown efficacy in unselected populations but this point remains controversial. Here we have reviewed the clinical data that demonstrate a small but consistent subgroup of EGFR wild-type patients with nsCLC that obtain a clinical benefit from these drugs. Moreover, we review the biological rationale that may explain this benefit observed in the clinical setting.

关键词： non-small cell lung cancer Tyrosine kinase inhibitors Epidermal growth factor receptors

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sustainable career development for R&D professionals:Applying a career development system in Basque country

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International Journal of Innovation studies 2020年第2期4卷 40-50页

作者： edurne Loyarte-López Igor García-Olaizola Jorge Posada Iñaki Azúa Julián Flórez Vicomtech Mikeletegi Pasealekua 57Donostia-San SebastianES-20001Spain University of Deusto Unibertsitate Etorbidea24BilbaoES-48007Spain

The goal of this study is to measure the effectiveness of a career development system implemented at a research and technology organization at satisfying the context requirements of a decree issued by the Basque Country *** in-depth surveying of 80 R&D professionals over the five years,the authors aimed to determine whether a career development system,when it is linked to context requirements and researchers’contributions,could offer researchers feedback about their career aims and increase their job *** the five years of the study,the researchers’capacity to meet career requirements improved by 20%,and job satisfaction,although it declined at first,increased substantially in the last two years,reaching a historic high for the employee satisfaction survey.

关键词： Career development R&D personnel Research and technology organization Knowledge-intensive firms Employee job satisfaction

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Genetic and experimental evidence for the involvement of the CD6 lymphocyte receptor in psoriasis

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Cellular & Molecular Immunology 2018年第10期15卷 898-906页

作者： Marta Consuegra-Fernández Marc Julià Mario Martínez-Florensa Fernando Aranda Cristina Català noelia Armiger-Borràs María-Teresa Arias Francisca santiago Antonio Guilabert Anna Esteve Carlos Muñoz Carlos Ferrándiz José-Manuel Carrascosa edurne Pedrosa Jorge Romaní MercèAlsina José-Manuel Mascaró-Galy Francisco Lozano Immunoreceptores del sistema Innat i Adaptatiu Institut d'Investigacions Biomèdiques August Pi i Sunyer(IDIBAPS)Barcelona 08036Spain servicio de Dermatologia Hospital Universitario de BasurtoBilbao 48013Spain servei d’Immunologia Centre de Diagnòstic BiomèdicHospital Clínic de BarcelonaBarcelona 08036Spain servei de Dermatologia Hospital General de GranollersBarcelona 08402Spain Centre d’Estudis Epidemiològics sobre les ITs i sida de Catalunya(CEEIsCAT) ASPCCIBER Epidemiologia y Salud PúblicaBadalona 08916Spain servei de Dermatologia Hospital Universitari Germans Trias i PujolBadalona 08916Spain Laboratori d’Immunobiologia per Investigaciói Aplicacions al Diagnòstic Banc de Sang i Teixits(BST)Institut d’Investigacióen Ciències de la Salut Germans Trias i PujolDepartament de Biologia Cel·lularFisiologia i ImmunologiaUniversitat Autònoma de BarcelonaBellaterra 08193Spain servei de Dermatologia Consorci Sanitari Parc Taulí08208 Sabadell.Universitat Autónoma de BarcelonaBellaterra 08193Spain servei de Dermatologia Hospital Clínic de BarcelonaBarcelona 08036Spain Departament de Biomedicina Universitat de BarcelonaBarcelona 08036Spain

Psoriasis is a chronic inflammatory skin disease with a strong genetic background and is triggered by environmental *** evidence supports CD6,a lymphocyte surface receptor mostly expressed by T cells,as a putative target in ***,a humanized anti-CD6 antibody has been assayed for the treatment of certain autoimmune disorders,including ***,we present novel evidence in mice and humans for a direct involvement of CD6 in psoriasis ***,an attenuated form of imiquimod-induced psoriasis-like skin inflammation was demonstrated in CD6-deficient mice,as deduced from lower epidermal thickness and local reduced production of pro-inflammatory cytokines,namely,***,isolated CD4+CD62L+T cells from CD6-deficient mice displayed decreased in vitro T-helper type 17 ***,a statistically significant association between CD6 single-nucleotide polymorphisms(rs17824933,rs11230563 and rs12360861)and more severe forms of psoriasis was demonstrated in a cohort of 304 patients at three public hospitals from the metropolitan area of *** together,these results provide new supportive evidence of the contribution of the CD6 lymphocyte receptor in psoriasis at both experimental and clinical levels.

关键词： ALCAM CD5 CD6 lymphocyte psoriasis

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An Important Pool of sucrose Linked to starch Biosynthesis is Taken up by Endocytosis in Heterotrophic Cells

An Important Pool of Sucrose Linked to Starch Biosynthesis i...

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The second International symposium on Plant neurobiology

作者： edurne Baroja-Fernandez Ed Etxeberria Francisco José Muoz María Teresa Morán-Zorzano nora Alonso-Casajús Pedro Gonzalez Javier Pozueta-Romero Agrobioteknologia Instituta nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigations CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain University of Florida IFAs Citrus Research and Education Center700 Experiment Station RoadLake Alfred FL33850USA Agrobioteknologia Instituta nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigations CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain Agrobioteknologia Instituta nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigations CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain Agrobioteknologia Instituta nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigations CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain University of Florida IFAs Citrus Research and Education Center700 Experiment Station Road Lake Alfred FL33850USA Agrobioteknologia Instituta nafarroako Unibertsitate Publikoa Gobierno de Navarra and Consejo Superior de Investigaciones CientificasMutiloako etorbidea zenbaki gabe31192 MutiloabetiNafarroaSpain

＜正＞We have recently shown the occurrence of endocytic sucrose uptake in heterotrophic cells （Etxeberria et al. Plant Cell Physiol. 46, 474-481）. Whether this mechanism is involved in the sucrose-starch conversion process was investigated by comparing the rates of starch accumulation in sycamore cells cultured in the presence or absence of the endocytic inhibitors wortmannin and LY294002. These analyses revealed a two-phase process involving an initial 120 min wortmannin- and

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Endoscopic and anesthetic feasibility of EUs and ERCP combined in a single session versus two different sessions

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World Journal of Gastrointestinal Endoscopy 2011年第3期3卷 57-61页

作者： Juan J Vila Marcos Kutz silvia Goi Miriam Ostiz edurne Amorena Carlos Prieto Cristina Rodriguez Ignacio Fernández-Urien Francisco J Jiménez Endoscopy Unit Gastroenterology DepartmentComplejo Hospitalario de Navarra

AIM:To discuss the feasibility of single session endoscopic ultrasonography(EUs) to discuss and endoscopic retrograde cholangiopancreatography(ERCP) ***:Retrospective endoscopic and anesthetic outcome comparison of performing both EUs and ERCP in a single endoscopic session(Group Ⅰ) versus performing each procedure in two different sessions(Group Ⅱ) was *** following variables were evaluated:epidemiological variables,American society of Anesthesiologists Physical status Classification(AsA) level,procedural time,propofol dose,anesthetic complications,endoscopic complications and diagnostic yield,and therapeutic procedures on both groups.T-student,Chisquare and Fisher test were used for ***:We included 39 patients in Group Ⅰ(mean age:69.85 ± 9.25;27 men) and 46 in Group Ⅱ(mean age:67.46 ± 12.57;25 men).Procedural time did not differ significantly between both groups(Group Ⅰvs Group Ⅱ:93 ± 32.78 vs 98.98 ± 38.17;P >0.05) but the dose of propofol differed(Group Ⅰ vs Group Ⅱ:322.28 ± 250.54 mg vs 516.96 ± 289.06 mg;P = 0.001).Three patients had normal findings on both *** anesthetic complications [O2 desaturation(2),broncoaspiration(1)] and 9 endoscopic complications [pancreatitis(6),bleeding(1),perforation(1),cholangitis(1)] occurred without significant differences between both groups(P > 0.05).We did not find any significant difference regarding age,sex,AsA scale level,diagnostic yield or therapeutic maneuvers between both ***:The performance of EUs and ERCP in a single session offers a similar diagnostic and therapeutic yield,does not entail a higher complication risk and requires a significantly smaller dose of propofol for sedation compared with performing each exploration in a different session.

关键词： Endosonography Endoscopic Retrograde Cholangiopancreatography Feasibility studies Endoscopy Gastrointestinal Anesthesia

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