Guia Atualizado de Testes Moleculares Para a Seleção de Pacientes Com Câncer de Pulmão Para Tratamento com Inibidores Alvo de TirosinaQuinase-Versao Portugues Guia Atualizado de Testes Moleculares

Versao Portugues Guia Atualizado de Testes Moleculares

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The 2018 guidelines for the diagnosis and treatment of lung cancer recommend testing for three gene categories: EGFR, ALK, and ROS1, which should be tested in all patients. The second category includes BRAF, MET, RET, ERBB2 (HER2), and KRAS, which should be included in expanded panels if sufficient material is available. All other genes are considered investigational at this time. Testing for ROS1 is strongly recommended for all patients with advanced adenocarcinoma. Testing for BRAF, RET, ERBB2 (HER2), KRAS, and MET is not recommended as routine testing but can be included in comprehensive panels or as a second-line test after negative results for EGFR/ALK/ROS1. <br /><br />The guideline emphasizes the use of immunohistochemistry (IHC) as an alternative to fluorescence in situ hybridization (FISH) for testing for ALK rearrangements. If IHC results are inconclusive, further testing with FISH, RT-PCR, or next-generation sequencing (NGS) should be performed. The guideline highlights the importance of preserving tissue samples for testing for immunomodulatory therapies.<br /><br />In cases where tissue is limited or insufficient, circulating free DNA (cfDNA) can be used as an alternative to tissue biopsy. However, the sensitivity of cfDNA analysis is lower than tissue analysis and a negative result does not rule out the presence of a mutation. More research is needed to determine the role of cfDNA analysis in diagnosing lung adenocarcinoma and identifying mutations associated with resistance to EGFR inhibitors.<br /><br />Overall, the guidelines aim to provide evidence-based recommendations for the molecular diagnosis and treatment of lung cancer, focusing on the importance of testing for specific gene mutations and preserving tissue samples for immunomodulatory therapies.

Keywords

2018 guidelines

lung cancer

gene categories

EGFR

ALK

ROS1

BRAF

MET

RET

immunohistochemistry