Melanoma: Genomic Profiles, Molecular Markers and Therapeutic Implications

Melanoma Clinical Trial

Official title:

Melanoma: Genomic Profiles, Molecular Markers and Therapeutic Implications

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05119829
• Other study ID #: Gen_Melanoma_HeCOG
• Status: Active, not recruiting
• Start date: February 1, 1998
• Est. completion date: December 2023

Study information

• Verified date: March 2022
• Source: Hellenic Cooperative Oncology Group
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Description:

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).

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 80
• Est. completion date: December 2023
• Est. primary completion date: January 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Melanoma skin cancer patients
• the ability to achieve FFPE Exclusion Criteria: -

Related Conditions & MeSH terms

• Melanoma

Locations

Country	Name	City	State
Greece	1st Dept of Medical Oncology, Metropolitan Hospital	Athens

Sponsors (1)

Lead Sponsor	Collaborator
Hellenic Cooperative Oncology Group

Country where clinical trial is conducted

Greece, 

References & Publications (23)

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Long GV, Menzies AM, Nagrial AM, Haydu LE, Hamilton AL, Mann GJ, Hughes TM, Thompson JF, Scolyer RA, Kefford RF. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol. 2011 Apr 1;29(10):1239-46. doi: 10.1200/JCO.2010.32.4327. Epub 2011 Feb 22. — View Citation

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. — View Citation

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* Note: There are 23 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluation of prevalence mutation	Evaluation of prevalence mutation	January 2022 to September 2022
Secondary	ognostic significance of mutations with respect to overall survival	assessment of prognostic significance of mutations with respect to overall survival	January 2022 to September 2022