Melanoma: Genomic Profiles, Molecular Markers and Therapeutic Implications
29 de março de 2022 atualizado por: Hellenic Cooperative Oncology Group
The goal of this study is to evaluate the genomic profiles and investigate the prevalence of germ line and pathogenic mutations in Greek population with early and metastatic melanoma and their correlation with the treatment and prognosis of the disease.
Visão geral do estudo
Status
Ativo, não recrutando
Condições
Descrição detalhada
In this context, it is aimed to utilize tissue biopsy tests that will focus on specific areas of clinical applications, namely, diagnosis, prognosis and identification of mutations for targeted therapy and assessment of acquiring treatment resistance. Thus, the tissue biopsy Next Generation Sequencing (NGS) panels in development by NIPD Genetics will be used in clinical practice as complementary diagnostics.
For tumor genotyping of the 200 patients with melanoma skin cancer in the present study it will be used the comprehensive tissue biopsy melanoma cancer panel from NIPD Genetics These panels are designed to target clinically actionable and clinically significant mutations that will provide physicians with genetic information regarding a) prediction of the patient's response to targeted therapy, b) prognosis, that is, prediction of clinical outcome, c) diagnosis and molecular classification of melanoma cancer. The panel allows for the detection of single nucleotide (SNVs) and copy number variants (CNVs), as well as gene fusions and indels; it necessitates at least 400ng of appropriate quality DNA template that is achievable from FFPE samples and is validated with molecular standards and controls for the exclusion of artefacts.
Thorough histological evaluation of the Formalin-Fixed-Paraffin-Embedded (FFPE) tumor tissue blocks will be done by an experienced pathologist to evaluate H&E sections for confirmation of diagnosis, histologic type, grade and tumor cell content (TCC%). DNA isolation will be performed from 10 μm whole sections following manual macro-dissection to enrich samples for tumor DNA, whereby TCC will be assessed as an approximate metric for tumor DNA in the extracted samples, corresponding to tumor nuclei vs. all nuclei in the areas marked for macro-dissection.
A total of 200 patients with melanoma skin cancer are expected to be included in the analysis based on the number of patients registered in the Hellenic Cooperative Oncology Group's (HeCOG's) database along with the ability to achieve precision around the primary and secondary endpoints. Primary endpoint will be the evaluation of the prevalence of mutations, while the secondary endpoint will be the assessment of prognostic significance of mutations with respect to overall survival (OS).
Tipo de estudo
Observacional
Inscrição (Antecipado)
80
Contactos e Locais
Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.
Locais de estudo
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Athens, Grécia, 18547
- 1st Dept of Medical Oncology, Metropolitan Hospital
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Critérios de participação
Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.
Critérios de elegibilidade
Idades elegíveis para estudo
18 anos e mais velhos (Adulto, Adulto mais velho)
Aceita Voluntários Saudáveis
Não
Gêneros Elegíveis para o Estudo
Tudo
Método de amostragem
Amostra Não Probabilística
População do estudo
Patients with histologically confirmed melanoma skin cancer.
Patients are treated in Hellenic Cooperative oncology Group affiliated departments of oncology.
Descrição
Inclusion Criteria:
- Melanoma skin cancer patients
- the ability to achieve FFPE
Exclusion Criteria:
-
Plano de estudo
Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.
Como o estudo é projetado?
Detalhes do projeto
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
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Evaluation of prevalence mutation
Prazo: January 2022 to September 2022
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Evaluation of prevalence mutation
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January 2022 to September 2022
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Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
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ognostic significance of mutations with respect to overall survival
Prazo: January 2022 to September 2022
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assessment of prognostic significance of mutations with respect to overall survival
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January 2022 to September 2022
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Colaboradores e Investigadores
É aqui que você encontrará pessoas e organizações envolvidas com este estudo.
Patrocinador
Publicações e links úteis
A pessoa responsável por inserir informações sobre o estudo fornece voluntariamente essas publicações. Estes podem ser sobre qualquer coisa relacionada ao estudo.
Publicações Gerais
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- Jennings LJ, Arcila ME, Corless C, Kamel-Reid S, Lubin IM, Pfeifer J, Temple-Smolkin RL, Voelkerding KV, Nikiforova MN. Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists. J Mol Diagn. 2017 May;19(3):341-365. doi: 10.1016/j.jmoldx.2017.01.011. Epub 2017 Mar 21.
- Koumbaris G, Kypri E, Tsangaras K, Achilleos A, Mina P, Neofytou M, Velissariou V, Christopoulou G, Kallikas I, Gonzalez-Linan A, Benusiene E, Latos-Bielenska A, Marek P, Santana A, Nagy N, Szell M, Laudanski P, Papageorgiou EA, Ioannides M, Patsalis PC. Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex. Clin Chem. 2016 Jun;62(6):848-55. doi: 10.1373/clinchem.2015.252502. Epub 2016 Apr 26.
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- Khair DO, Bax HJ, Mele S, Crescioli S, Pellizzari G, Khiabany A, Nakamura M, Harris RJ, French E, Hoffmann RM, Williams IP, Cheung A, Thair B, Beales CT, Touizer E, Signell AW, Tasnova NL, Spicer JF, Josephs DH, Geh JL, MacKenzie Ross A, Healy C, Papa S, Lacy KE, Karagiannis SN. Combining Immune Checkpoint Inhibitors: Established and Emerging Targets and Strategies to Improve Outcomes in Melanoma. Front Immunol. 2019 Mar 19;10:453. doi: 10.3389/fimmu.2019.00453. eCollection 2019.
- Hayward NK, Wilmott JS, Waddell N, Johansson PA, Field MA, Nones K, Patch AM, Kakavand H, Alexandrov LB, Burke H, Jakrot V, Kazakoff S, Holmes O, Leonard C, Sabarinathan R, Mularoni L, Wood S, Xu Q, Waddell N, Tembe V, Pupo GM, De Paoli-Iseppi R, Vilain RE, Shang P, Lau LMS, Dagg RA, Schramm SJ, Pritchard A, Dutton-Regester K, Newell F, Fitzgerald A, Shang CA, Grimmond SM, Pickett HA, Yang JY, Stretch JR, Behren A, Kefford RF, Hersey P, Long GV, Cebon J, Shackleton M, Spillane AJ, Saw RPM, Lopez-Bigas N, Pearson JV, Thompson JF, Scolyer RA, Mann GJ. Whole-genome landscapes of major melanoma subtypes. Nature. 2017 May 11;545(7653):175-180. doi: 10.1038/nature22071. Epub 2017 May 3.
- Shain AH, Joseph NM, Yu R, Benhamida J, Liu S, Prow T, Ruben B, North J, Pincus L, Yeh I, Judson R, Bastian BC. Genomic and Transcriptomic Analysis Reveals Incremental Disruption of Key Signaling Pathways during Melanoma Evolution. Cancer Cell. 2018 Jul 9;34(1):45-55.e4. doi: 10.1016/j.ccell.2018.06.005.
- Shain AH, Bastian BC. From melanocytes to melanomas. Nat Rev Cancer. 2016 Jun;16(6):345-58. doi: 10.1038/nrc.2016.37. Epub 2016 Apr 29. Erratum In: Nat Rev Cancer. 2020 Jun;20(6):355.
- Long GV, Weber JS, Infante JR, Kim KB, Daud A, Gonzalez R, Sosman JA, Hamid O, Schuchter L, Cebon J, Kefford RF, Lawrence D, Kudchadkar R, Burris HA 3rd, Falchook GS, Algazi A, Lewis K, Puzanov I, Ibrahim N, Sun P, Cunningham E, Kline AS, Del Buono H, McDowell DO, Patel K, Flaherty KT. Overall Survival and Durable Responses in Patients With BRAF V600-Mutant Metastatic Melanoma Receiving Dabrafenib Combined With Trametinib. J Clin Oncol. 2016 Mar 10;34(8):871-8. doi: 10.1200/JCO.2015.62.9345. Epub 2016 Jan 25. Erratum In: J Clin Oncol. 2019 Feb 1;37(4):355.
- Catalanotti F, Cheng DT, Shoushtari AN, Johnson DB, Panageas KS, Momtaz P, Higham C, Won HH, Harding JJ, Merghoub T, Rosen N, Sosman JA, Berger MF, Chapman PB, Solit DB. PTEN Loss-of-Function Alterations Are Associated With Intrinsic Resistance to BRAF Inhibitors in Metastatic Melanoma. JCO Precis Oncol. 2017 Jun 23;1:PO.16.00054. doi: 10.1200/PO.16.00054. eCollection 2017.
- Whiteman DC, Baade PD, Olsen CM. More people die from thin melanomas (⩽1 mm) than from thick melanomas (>4 mm) in Queensland, Australia. J Invest Dermatol. 2015 Apr;135(4):1190-1193. doi: 10.1038/jid.2014.452. Epub 2014 Oct 20. No abstract available.
- D'Angelo SP, Larkin J, Sosman JA, Lebbe C, Brady B, Neyns B, Schmidt H, Hassel JC, Hodi FS, Lorigan P, Savage KJ, Miller WH Jr, Mohr P, Marquez-Rodas I, Charles J, Kaatz M, Sznol M, Weber JS, Shoushtari AN, Ruisi M, Jiang J, Wolchok JD. Efficacy and Safety of Nivolumab Alone or in Combination With Ipilimumab in Patients With Mucosal Melanoma: A Pooled Analysis. J Clin Oncol. 2017 Jan 10;35(2):226-235. doi: 10.1200/JCO.2016.67.9258. Epub 2016 Nov 7.
- NCCN Clinical Practice Guidelines in Oncology TM. 2009
Datas de registro do estudo
Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.
Datas Principais do Estudo
Início do estudo (Real)
1 de fevereiro de 1998
Conclusão Primária (Antecipado)
1 de janeiro de 2023
Conclusão do estudo (Antecipado)
1 de dezembro de 2023
Datas de inscrição no estudo
Enviado pela primeira vez
3 de novembro de 2021
Enviado pela primeira vez que atendeu aos critérios de CQ
3 de novembro de 2021
Primeira postagem (Real)
15 de novembro de 2021
Atualizações de registro de estudo
Última Atualização Postada (Real)
31 de março de 2022
Última atualização enviada que atendeu aos critérios de controle de qualidade
29 de março de 2022
Última verificação
1 de março de 2022
Mais Informações
Termos relacionados a este estudo
Termos MeSH relevantes adicionais
Outros números de identificação do estudo
- Gen_Melanoma_HeCOG
Informações sobre medicamentos e dispositivos, documentos de estudo
Estuda um medicamento regulamentado pela FDA dos EUA
Não
Estuda um produto de dispositivo regulamentado pela FDA dos EUA
Não
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