Séquençage de nouvelle génération pour les tumeurs malignes myéloïdes
Progrès et applications pratiques
Résumé
Au cours des deux dernières décennies, le séquençage de nouvelle génération (SNG) a révolutionné notre compréhension de la pathogenèse des néoplasies myéloïdes (NM) et de leur prise en charge clinique. Alors que le séquençage traditionnel par la méthode de Sanger permet l’interrogation de loci uniques, le SNG permet le séquençage parallèle de plusieurs emplacements génomiques, allant d’ensembles de gènes ciblés, à l’ensemble du génome. Initialement, le SNG était principalement utilisé en recherche, où la capacité d’interroger de grandes régions du génome facilitait la découverte de gènes mutés de manière récurrente dans les cancers myéloïdes. Peu de temps après, le SNG est entré dans le domaine clinique où il est maintenant couramment utilisé dans le diagnostic, le pronostic et la prise de décision en matière de traitement. La grande disponibilité du SNG clinique s’accompagne cependant de son lot unique de défis. Les hématologues doivent interpréter des rapports moléculaires complexes et appliquer de manière appropriée et en temps réel, les informations mutationnelles aux soins de leurs patients. Par conséquent, une approche systématique dans l’interprétation des rapports de SNG est cruciale; c’est ce que nous couvrirons dans ce qui suit.
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