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  1. Article ; Online: Management of patients with rare adult solid cancers: objectives and evaluation of European reference networks (ERN) EURACAN.

    Blay, Jean-Yves / Casali, Paolo / Ray-Coquard, Isabelle / Seckl, Michael J / Gietema, Jourik / de Herder, Wouter W / Caplin, Martyn / Klümpen, Heinz-Josef / Glehen, Olivier / Wyrwicz, Lucjan / Peeters, Robin / Licitra, Lisa / Girard, Nicolas / Piperno-Neumann, Sophie / Kapiteijn, Ellen / Idbaih, Ahmed / Franceschi, Enrico / Trama, Annalisa / Frezza, Anna-Maria /
    Hohenberger, Peter / Hindi, Nadia / Martin-Broto, Javier / Schell, Johanna / Rogasik, Muriel / Lejeune, Stephane / Oliver, Kathy / de Lorenzo, Francesco / Weinman, Ariane

    The Lancet regional health. Europe

    2024  Volume 39, Page(s) 100861

    Abstract: About 500,000 patients with rare adult solid cancers (RASC) are diagnosed yearly in Europe. Delays and unequal quality of management impact negatively their survival. Since 2017, European reference networks (ERN) aim to improve the quality of care of ... ...

    Abstract About 500,000 patients with rare adult solid cancers (RASC) are diagnosed yearly in Europe. Delays and unequal quality of management impact negatively their survival. Since 2017, European reference networks (ERN) aim to improve the quality of care of patients with rare disease. The steering committee of EURACAN, including physicians, researchers and patients review here the previous actions, present objectives of the ERN EURACAN dedicated to RASC. EURACAN promoted management in reference centres, and equal implementation of excellence and innovation in Europe and developed 22 clinical practice guidelines (CPGs). Additionally, fourteen information brochures translated in 24 EU languages were developed in collaboration with patient advocacy groups (ePAGs) and seventeen training session were organized. Nevertheless, connections to national networks in the 26 participating countries (106 centres), simplification of cross-border healthcare, international multidisciplinary tumour boards, registries and monitoring of the quality of care are still required. In this Health Policy, evaluation criteria of the performances of the network and of health care providers are proposed.
    Language English
    Publishing date 2024-02-16
    Publishing country England
    Document type Journal Article ; Review
    ISSN 2666-7762
    ISSN (online) 2666-7762
    DOI 10.1016/j.lanepe.2024.100861
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Uveal Melanoma: A European Network to Face the Many Challenges of a Rare Cancer.

    Piperno-Neumann, Sophie / Piulats, Jose Maria / Goebeler, Matthias / Galloway, Iain / Lugowska, Iwona / Becker, Jürgen C / Vihinen, Pia / Van Calster, Joachim / Hadjistilianou, Theodora / Proença, Rui / Caminal, Jose Maria / Rogasik, Muriel / Blay, Jean-Yves / Kapiteijn, Ellen

    Cancers

    2019  Volume 11, Issue 6

    Abstract: Uveal melanoma (UM) is the most frequent primary ocular cancer in adults, accounting for 5% of all melanomas. Despite effective treatments for the primary tumour, up to 50% of UM patients will develop metastasis, leading to a very poor prognosis and a ... ...

    Abstract Uveal melanoma (UM) is the most frequent primary ocular cancer in adults, accounting for 5% of all melanomas. Despite effective treatments for the primary tumour, up to 50% of UM patients will develop metastasis, leading to a very poor prognosis and a median overall survival of 6 to 12 months, with no major improvements in the last 30 years. There is no standard oncological treatment available for metastatic UM patients, and BRAF/MEK and immune checkpoint inhibitors show disappointing results when compared to cutaneous melanoma (CM). Recent advances in biology, however, identified specific gene and chromosome alterations, potentially permitting an actively tailored surveillance strategy, and dedicated clinical studies. Being a rare cancer, UM patients have to overcome issues such as identifying referral centres, having access to information, and partnering with oncologists for specific management strategies and research priorities. Here, we describe how the EUropean Rare Adult solid CAacer Network (EURACAN) will help in addressing these challenges and accelerating international collaborations to enhance the development of innovative treatments in UM.
    Language English
    Publishing date 2019-06-13
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers11060817
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  3. Article ; Online: Pattern of Care and Outcomes of Adolescent and Young Adults with Lymphoma Treated in the Rhône-Alpes Region.

    Dony, Arthur / Belhabri, Amine / Bertrand, Yves / Sebban, Catherine / Cony-Makhoul, Pascale / Sobh, Mohamad / Rogasik, Muriel / Salles, Gilles / Anglaret, Bruno / Freycon, Claire / Corm, Selim / Faurie, Pierre / Cornillon, Jérome / Michallet, Anne-Sophie / Chassagne-Clément, Catherine / Berger, Françoise / Ray-Coquard, Isabelle Laure

    Journal of adolescent and young adult oncology

    2019  Volume 8, Issue 6, Page(s) 684–696

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Adolescent ; Adult ; Combined Modality Therapy ; Delivery of Health Care/statistics & numerical data ; Female ; Follow-Up Studies ; France/epidemiology ; Hodgkin Disease/mortality ; Hodgkin Disease/pathology ; Hodgkin Disease/therapy ; Humans ; Lymphoma, Non-Hodgkin/mortality ; Lymphoma, Non-Hodgkin/pathology ; Lymphoma, Non-Hodgkin/therapy ; Male ; Practice Patterns, Physicians'/statistics & numerical data ; Prognosis ; Retrospective Studies ; Survival Rate ; Young Adult
    Language English
    Publishing date 2019-08-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2607978-1
    ISSN 2156-535X ; 2156-5333
    ISSN (online) 2156-535X
    ISSN 2156-5333
    DOI 10.1089/jayao.2019.0016
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  4. Article: A comparison of Australian and French families affected by sarcoma: perceptions of genetics and incidental findings.

    Rasmussen, Victoria / Forrest, Laura E / Rogasik, Muriel / Girodet, Magali / Meeus, Pierre / Sunyach, Marie-Pierre / Blay, Jean-Yves / Bally, Olivia / Brahmi, Mehdi / Ballinger, Mandy L / Niedermayr, Eveline / Thomas, David M / Halliday, Jane / James, Paul / Ray-Coquard, Isabelle / Young, Mary-Anne

    Personalized medicine

    2018  Volume 15, Issue 1, Page(s) 13–24

    Abstract: Aim: To compare Australian and French perceptions of genetics and preferences regarding the return of incidental findings.: Methods: Participants from the International Sarcoma Kindred Study received a survey at intake to cancer referral units. A ... ...

    Abstract Aim: To compare Australian and French perceptions of genetics and preferences regarding the return of incidental findings.
    Methods: Participants from the International Sarcoma Kindred Study received a survey at intake to cancer referral units. A total of 1442 Australian and 479 French individuals affected by sarcoma and their unaffected family members responded to four hypothetical scenarios depicting hereditary conditions of varying treatability and severity.
    Results: Australians' preference for the return of incidental findings was consistently higher than French for all scenarios. Country group differences were significant for two scenarios when individual characteristics were controlled through multivariable analyses.
    Conclusion: Findings support the need for guidelines that are sensitive to sociocultural context and promote autonomous decision-making.
    MeSH term(s) Adult ; Attitude to Health/ethnology ; Australia/ethnology ; Confidentiality ; Decision Making/ethics ; Family ; Female ; France/ethnology ; Genetic Testing/ethics ; Genetics/education ; Health Knowledge, Attitudes, Practice/ethnology ; Humans ; Incidental Findings ; Male ; Middle Aged ; Perception/ethics ; Sarcoma/psychology ; Surveys and Questionnaires
    Language English
    Publishing date 2018-04-30
    Publishing country England
    Document type Journal Article
    ZDB-ID 2299146-3
    ISSN 1744-828X ; 1741-0541
    ISSN (online) 1744-828X
    ISSN 1741-0541
    DOI 10.2217/pme-2017-0035
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  5. Article ; Online: Compliance to regional recommendations for molecular analyses and management of advanced lung cancer patients.

    Swalduz, Aurélie / Souquet, Pierre-Jean / Pérol, Maurice / Moro-Sibilot, Denis / Schiffler, Camille / Chabaud, Sylvie / Fayet, Yohan / Rogasik, Muriel / Labrosse, Hélène / Farsi, Fadila / Brun, Philippe / Decroisette, Chantal / Bombaron, Pierre / Bringuier, Pierre-Paul / Haddad, Véronique / Forest, Fabien / Peoc'h, Michel / Lantuejoul, Sylvie / de Fraipont, Florence /
    Ray-Coquard, Isabelle / Fournel, Pierre

    Future oncology (London, England)

    2019  Volume 15, Issue 18, Page(s) 2139–2149

    Abstract: Aim: ...

    Abstract Aim:
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor ; Carcinoma, Non-Small-Cell Lung/diagnosis ; Carcinoma, Non-Small-Cell Lung/epidemiology ; Carcinoma, Non-Small-Cell Lung/etiology ; Carcinoma, Non-Small-Cell Lung/therapy ; Clinical Audit ; Disease Management ; Female ; France ; Genes, erbB-1 ; Geography ; Guideline Adherence ; Humans ; Lung Neoplasms/diagnosis ; Lung Neoplasms/epidemiology ; Lung Neoplasms/etiology ; Lung Neoplasms/therapy ; Male ; Middle Aged ; Molecular Diagnostic Techniques/methods ; Molecular Diagnostic Techniques/standards ; Molecular Targeted Therapy ; Mutation ; Neoplasm Metastasis ; Neoplasm Staging ; Protein Kinase Inhibitors/pharmacology ; Protein Kinase Inhibitors/therapeutic use ; Retrospective Studies ; Survival Analysis
    Chemical Substances Biomarkers, Tumor ; Protein Kinase Inhibitors
    Language English
    Publishing date 2019-06-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 2274956-1
    ISSN 1744-8301 ; 1479-6694
    ISSN (online) 1744-8301
    ISSN 1479-6694
    DOI 10.2217/fon-2018-0943
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  6. Article ; Online: Off-label use of targeted therapies in osteosarcomas: data from the French registry OUTC'S (Observatoire de l'Utilisation des Thérapies Ciblées dans les Sarcomes).

    Penel-Page, Mathilde / Ray-Coquard, Isabelle / Larcade, Julie / Girodet, Magali / Bouclier, Laure / Rogasik, Muriel / Corradini, Nadège / Entz-Werle, Natacha / Brugieres, Laurence / Domont, Julien / Lervat, Cyril / Piperno-Neumann, Sophie / Pacquement, Helène / Bay, Jacques-Olivier / Gentet, Jean-Claude / Thyss, Antoine / Chaigneau, Loic / Narciso, Bérangère / Cornille, Helène /
    Blay, Jean-Yves / Marec-Bérard, Perrine

    BMC cancer

    2015  Volume 15, Page(s) 854

    Abstract: Background: The objective of this study is to explore the off-label use of targeted therapies (TTs) for patients with osteosarcoma registered within the French Sarcoma Group--Bone Tumor Study Group (GSF-GETO) national registry.: Methods: All patients ...

    Abstract Background: The objective of this study is to explore the off-label use of targeted therapies (TTs) for patients with osteosarcoma registered within the French Sarcoma Group--Bone Tumor Study Group (GSF-GETO) national registry.
    Methods: All patients with an osteosarcoma, registered between January 1, 2009 and July 15, 2013 were analyzed.
    Results: Twenty-nine patients with refractory relapsed osteosarcomas received 33 treatment lines of TTs. The median age at the beginning of treatment was 19 years (range 9-72). The median number of previous lines of chemotherapy was 3 (range 1-8). Before inclusion, 3 patients were in second complete remission, 26 were in progression for metastatic relapse. Twenty-three patients received sirolimus (in combination with cyclophosphamide for 18); 5, sunitinib; 4, sorafenib; and one, pazopanib. Stable disease was observed for 45.5% of patients (95% Confidence Interval (CI) [20-52.8]). The median Progression-Free Survival (PFS) was 3 months (95% CI [2-5.4]) for patients treated by sirolimus and 1.8 months (95% CI [1.3-2.8]) for patients receiving multi-targeted tyrosine kinase inhibitors; 6-month PFS 15%. The median Overall Survival (OS) was 6.8 months (95% CI [4.7-12.1]), and one-year OS was 24%. In a multivariate analysis, PFS was superior for patients receiving sirolimus compared to other TTs (Hazard Ratio (HR) = 2.7, 95% CI [1.05-7.1]). No toxic death was reported. Grade 3 and 4 toxicities were observed in 27 and 6% of cases respectively.
    Conclusion: Off-label TTs, especially sirolimus, reported benefit in the treatment of refractory osteosarcomas with an acceptable toxicity profile, including in pediatric population.
    MeSH term(s) Adolescent ; Adult ; Aged ; Antineoplastic Agents/administration & dosage ; Antineoplastic Agents/adverse effects ; Antineoplastic Agents/therapeutic use ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Child ; Female ; Follow-Up Studies ; France ; Humans ; Male ; Middle Aged ; Molecular Targeted Therapy/methods ; Neoplasm Grading ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Off-Label Use ; Osteosarcoma/drug therapy ; Osteosarcoma/mortality ; Osteosarcoma/pathology ; Registries ; Retreatment ; Treatment Outcome ; Young Adult
    Chemical Substances Antineoplastic Agents
    Language English
    Publishing date 2015-11-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1471-2407
    ISSN (online) 1471-2407
    DOI 10.1186/s12885-015-1894-5
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  7. Article ; Online: Heritable defects in telomere and mitotic function selectively predispose to sarcomas.

    Ballinger, Mandy L / Pattnaik, Swetansu / Mundra, Piyushkumar A / Zaheed, Milita / Rath, Emma / Priestley, Peter / Baber, Jonathan / Ray-Coquard, Isabelle / Isambert, Nicholas / Causeret, Sylvain / van der Graaf, Winette T A / Puri, Ajay / Duffaud, Florence / Le Cesne, Axel / Seddon, Beatrice / Chandrasekar, Coonoor / Schiffman, Joshua D / Brohl, Andrew S / James, Paul A /
    Kurtz, Jean-Emmanuel / Penel, Nicolas / Myklebost, Ola / Meza-Zepeda, Leonardo A / Pickett, Hilda / Kansara, Maya / Waddell, Nicola / Kondrashova, Olga / Pearson, John V / Barbour, Andrew P / Li, Shuai / Nguyen, Tuong L / Fatkin, Diane / Graham, Robert M / Giannoulatou, Eleni / Green, Melissa J / Kaplan, Warren / Ravishankar, Shyamsundar / Copty, Joseph / Powell, Joseph E / Cuppen, Edwin / van Eijk, Kristel / Veldink, Jan / Ahn, Jin-Hee / Kim, Jeong Eun / Randall, R Lor / Tucker, Kathy / Judson, Ian / Sarin, Rajiv / Ludwig, Thomas / Genin, Emmanuelle / Deleuze, Jean-Francois / Haber, Michelle / Marshall, Glenn / Cairns, Murray J / Blay, Jean-Yves / Thomas, David M / Tattersall, Martin / Neuhaus, Susan / Lewis, Craig / Carey-Smith, Richard / Wood, David / Porceddu, Sandro / Dickinson, Ian / Thorne, Heather / James, Paul / Cassier, Philippe / Isambert, Nicolas / Ward, Iain / van der Graaf, Winette / Rickar, Rory / Hennig, Ivo / Schiffman, Joshua / Silvestri, Audrey / Zaratzian, Anaiis / Tayao, Michael / Walwyn, Kelly / Niedermayr, Eveline / Mang, Denia / Clark, Richard / Thorpe, Tina / MacDonald, Jessica / Riddell, Kim / Mar, Jasmine / Fennelly, Vicki / Wicht, Allison / Zielony, Belinda / Galligan, Emma / Glavich, Genna / Stoeckert, Johanna / Williams, Lynda / Djandjgava, Lana / Buettner, Iwona / Osinki, Carla / Stephens, Sonya / Rogasik, Muriel / Bouclier, Laure / Girodet, Magali / Charreton, Amandine / Fayet, Yohan / Crasto, Saniya / Sandupatla, Bhanupriya / Yoon, Yeon / Je, Noda / Thompson, Liz / Fowler, Trent / Johnson, Bella / Petrikova, Galina / Hambridge, Thomas / Hutchins, Angela / Bottero, Diego / Scanlon, Deborah / Stokes-Denson, Jo / Génin, Emmanuelle / Campion, Dominique / Dartigues, Jean-François / Deleuze, Jean-François / Lambert, Jean-Charles / Redon, Richard / Grenier-Boley, Benjamin / Letort, Sébastien / Lindenbaum, Pierre / Meyer, Vincent / Quenez, Olivier / Dina, Christian / Bellenguez, Céline / Le Clézio, Camille Charbonnier / Giemza, Joanna / Chatel, Stéphanie / Férec, Claude / Le Marec, Hervé / Letenneur, Luc / Nicolas, Gaël / Rouault, Karen

    Science (New York, N.Y.)

    2023  Volume 379, Issue 6629, Page(s) 253–260

    Abstract: Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specific ...

    Abstract Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer susceptibility. Sarcomas are rare malignancies predominantly derived from embryonic mesoderm. To identify pathways specific to mesenchymal cancers, we performed whole-genome germline sequencing on 1644 sporadic cases and 3205 matched healthy elderly controls. Using an extreme phenotype design, a combined rare-variant burden and ontologic analysis identified two sarcoma-specific pathways involved in mitotic and telomere functions. Variants in centrosome genes are linked to malignant peripheral nerve sheath and gastrointestinal stromal tumors, whereas heritable defects in the shelterin complex link susceptibility to sarcoma, melanoma, and thyroid cancers. These studies indicate a specific role for heritable defects in mitotic and telomere biology in risk of sarcomas.
    MeSH term(s) Humans ; Genetic Predisposition to Disease ; Genetic Variation ; Germ Cells ; Melanoma/genetics ; Mitosis/genetics ; Sarcoma/genetics ; Shelterin Complex/genetics ; Telomere/genetics ; Germ-Line Mutation
    Chemical Substances Shelterin Complex
    Language English
    Publishing date 2023-01-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.abj4784
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