Article ; Online: Identificazione di mutazioni driver nel tumore del polmone non a piccole cellule mediante biopsia liquida: fusione di RET e terapia con pralsetinib.
2021 Volume 112, Issue 1, Page(s) 5e–9e
Abstract: Advances in cancer biology research led to the identification of new molecular drivers in non-small cell lung cancer. These alterations should be searched especially in young and never-smoker patients, in order to ensure access to targeted therapies. In ... ...
Title translation | Detection of novel driver mutations in liquid biopsy: case report of a RET-positive lung adenocarcinoma treated with pralsetinib. |
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Abstract | Advances in cancer biology research led to the identification of new molecular drivers in non-small cell lung cancer. These alterations should be searched especially in young and never-smoker patients, in order to ensure access to targeted therapies. In particular, RET mutations occur in 1-2% of lung adenocarcinomas and represent the molecular target of innovative treatments such as pralsetinib. The Next Generation Sequencing provides a comprehensive genomic profiling both on tissue and blood sampling. The liquid biopsy could be extremely advantageous, as it is a simple, non-invasive and repeatable test. We report the case of a non-smoker woman with metastatic lung adenocarcinoma unresponsive to chemotherapy and immunotherapy. RET mutation (RET-KIF5B fusion) was found by liquid biopsy. The patient started therapy with pralsetinib obtaining an early radiological response and a significant clinical benefit. |
MeSH term(s) | Adenocarcinoma of Lung/drug therapy ; Adenocarcinoma of Lung/genetics ; Carcinoma, Non-Small-Cell Lung/drug therapy ; Female ; Humans ; Liquid Biopsy ; Lung Neoplasms/drug therapy ; Lung Neoplasms/genetics ; Mutation ; Proto-Oncogene Proteins c-ret/genetics ; Proto-Oncogene Proteins c-ret/therapeutic use ; Pyrazoles ; Pyridines ; Pyrimidines |
Chemical Substances | Pyrazoles ; Pyridines ; Pyrimidines ; pralsetinib ; Proto-Oncogene Proteins c-ret (EC 2.7.10.1) ; RET protein, human (EC 2.7.10.1) |
Language | Italian |
Publishing date | 2021-01-29 |
Publishing country | Italy |
Document type | Case Reports ; Journal Article |
ZDB-ID | 138266-4 |
ISSN | 2038-1840 ; 0034-1193 |
ISSN (online) | 2038-1840 |
ISSN | 0034-1193 |
DOI | 10.1701/3525.35131 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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