Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.
Biological Sciences
Cancer
Genomics
Journal
iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038
Informations de publication
Date de publication:
25 Oct 2019
25 Oct 2019
Historique:
received:
20
05
2019
revised:
01
08
2019
accepted:
23
09
2019
pubmed:
13
10
2019
medline:
13
10
2019
entrez:
13
10
2019
Statut:
ppublish
Résumé
Sporadic Medullary Thyroid Carcinoma (sMTC) is a rare but aggressive thyroid tumor. RET and RAS genes are present in about 50%-80% of cases, but most of the remaining cases are still orphan of a genetic driver. We studied the largest series of sMTC by deep sequencing to define the mutational landscape. With this methodology we greatly reduced the number of RET- or RAS-negative cases and we confirmed the central role of RET and RAS mutations. Moreover, we highlighted the bad prognostic role of RET mutations in sMTC and consolidated the favorable prognostic role of RAS mutations. For the first time, we showed that the variant allele frequency represents an additional prognostic marker inside the group of RET-mutated sMTC.
Identifiants
pubmed: 31605946
pii: S2589-0042(19)30368-2
doi: 10.1016/j.isci.2019.09.030
pmc: PMC6817656
pii:
doi:
Types de publication
Journal Article
Langues
eng
Pagination
324-336Informations de copyright
Copyright © 2019 The Author(s). Published by Elsevier Inc. All rights reserved.
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