title: Molecular perspectives in differentiated thyroid cancer.
abstract: Progress in understanding the molecular genetics of thyroid cancer in the last 20 years has accelerated recently with the advent of high-throughput sequencing technologies known as Next-Generation Sequencing. Besides classical molecular abnormalities involving the MAPK (Mitogen Activated Protein Kinase) and PI3K (PhosphoInositide 3-Kinase) pathways that play a key role in follicular-derived thyroid tumorigenesis, new molecular abnormalities have been discovered. The major advances in recent years have been the discovery of new somatic driver gene point mutations (such as RASAL1 [RAS protein activator Like 1] mutations in follicular cancer) and/or mutations that have prognostic value (such as TERT [Telomerase reverse transcriptase] promoter mutations); new chromosomal rearrangements, usually having close connection with exposure to ionizing radiation (such as ALK [Anaplastic Lymphoma Kinase] rearrangements); and deregulation of some gene or microRNA expression representing a molecular signature. Progress made in understanding the molecular mechanisms of thyroid cancer offers new perspectives for the diagnosis of the benign or malignant status of a thyroid nodule, to refine prognosis and offer new perspectives of targeted therapy for radioiodine-refractory cancers.
authors.affiliation: Unité thyroïde-tumeurs endocrines, Institut d'endocrinologie E3M et Service de médecine nucléaire, Hôpital Pitié-Salpêtrière, Université Pierre-et-Marie-Curie/IUC, 83, boulevard de L'Hôpital, 75013 Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Buffet
authors.affiliation: Université Paris Descartes, Sorbonne Paris cité et Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France. Electronic address: lionel.groussin@cch.aphp.fr.
authors.forename: L
authors.initials: L
authors.lastname: Groussin
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000235:genetics / Q000473:pathology; D002277:Carcinoma / Q000235:genetics / Q000473:pathology; D002291:Carcinoma, Papillary; D020690:GTPase-Activating Proteins / Q000235:genetics; D006801:Humans; D020928:Mitogen-Activated Protein Kinases / Q000235:genetics; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D011379:Prognosis; D015398:Signal Transduction / Q000235:genetics; D019098:Telomerase / Q000235:genetics; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D020690:GTPase-Activating Proteins; C580923:RASAL1 protein, human; D019869:Phosphatidylinositol 3-Kinases; D020928:Mitogen-Activated Protein Kinases; C509186:TERT protein, human; D019098:Telomerase
keywords: BRAF; MAPK pathway; Next Generation Sequencing; PI3K pathway; Séquençage à haut débit; TERT; Voie des MAPK; Voie des PI3K