Your browser doesn't support javascript.
loading
Feasibility and Impact of Embedding an Extended DNA and RNA Tissue-Based Sequencing Panel for the Routine Care of Patients with Advanced Melanoma in Spain.
Castrejon, Natalia; Martin, Roberto; Carrasco, Antonio; Castillo, Paola; Garcia, Adriana; Albero-González, Raquel; García, Mireia; Marginet, Marta; Palau, Núria; Hernández, Mónica; Montironi, Carla; Clot, Guillem; Arance, Ana; Alos, Llucia; Teixido, Cristina.
Afiliação
  • Castrejon N; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Martin R; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Rosselló 149, 08036 Barcelona, Spain.
  • Carrasco A; Department of Medical Oncology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Castillo P; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Garcia A; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Albero-González R; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Rosselló 149, 08036 Barcelona, Spain.
  • García M; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Marginet M; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Rosselló 149, 08036 Barcelona, Spain.
  • Palau N; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Hernández M; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Rosselló 149, 08036 Barcelona, Spain.
  • Montironi C; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Clot G; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Arance A; Molecular Biology Core Facility, Hospital Clínic, 08036 Barcelona, Spain.
  • Alos L; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
  • Teixido C; Department of Pathology, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain.
Int J Mol Sci ; 25(13)2024 Jun 25.
Article em En | MEDLINE | ID: mdl-39000050
ABSTRACT
Targeted NGS allows a fast and efficient multi-gene analysis and the detection of key gene aberrations in melanoma. In this study, we aim to describe the genetic alterations in a series of 87 melanoma cases using the oncomine focus assay (OFA), relate these results with the clinicopathological features of the patients, and compare them with our previous study results in which we used a smaller panel, the oncomine solid tumor (OST) DNA kit. Patients diagnosed with advanced melanoma at our center from 2020 to 2022 were included and DNA and RNA were extracted for sequencing. Common mutated genes were BRAF (29%), NRAS (28%), ALK, KIT, and MAP2K1 (5% each). Co-occurring mutations were detected in 29% of the samples, including BRAF with KIT, CTNNB1, EGFR, ALK, HRAS, or MAP2K1. Amplifications and rearrangements were detected in 5% of cases. Only BRAF mutation showed a significant statistical association with sun exposure. For patients with a given genetic profile, the melanoma survival and recurrence-free survival rates were equivalent, but not for stage and LDH values. This expanded knowledge of molecular alterations has helped to more comprehensively characterize our patients and has provided relevant information for deciding the best treatment strategy.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Melanoma / Mutação Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Int J Mol Sci Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Espanha

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Melanoma / Mutação Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Int J Mol Sci Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Espanha