Comparative genomic analysis of primary tumors and paired brain metastases in lung cancer patients by whole exome sequencing: a pilot study.

brain metastasis comparison lung cancer mutations whole exome sequencing

Journal

Oncotarget
ISSN: 1949-2553
Titre abrégé: Oncotarget
Pays: United States
ID NLM: 101532965

Informations de publication

Date de publication:
15 Dec 2020
Historique:
received: 07 08 2020
accepted: 19 11 2020
entrez: 5 1 2021
pubmed: 6 1 2021
medline: 6 1 2021
Statut: epublish

Résumé

Lung cancer brain metastases (BMs) are frequent and associated with poor prognosis despite a better knowledge of lung cancer biology and the development of targeted therapies. The inconstant intracranial response to systemic treatments is partially due to tumor heterogeneity between the primary lung tumor (PLT) and BMs. There is therefore a need for a better understanding of lung cancer BMs biology to improve treatment strategies for these patients. We conducted a study of whole exome sequencing of paired BM and PLT samples. The number of somatic variants and chromosomal alterations was higher in BM samples. We identified recurrent mutations in BMs not found in PLT. Phylogenic trees and lollipop plots were designed to describe their functional impact. Among the 13 genes mutated in ≥ 1 BM, 7 were previously described to be associated with invasion process, including 3 with recurrent mutations in functional domains which may be future targets for therapy. We provide with some insights about the mechanisms leading to BMs. We found recurrent mutations in BM samples in 13 genes. Among these genes, 7 were previously described to be associated with cancer and 3 of them (

Identifiants

pubmed: 33400739
doi: 10.18632/oncotarget.27837
pii: 27837
pmc: PMC7747858
doi:

Types de publication

Journal Article

Langues

eng

Pagination

4648-4654

Informations de copyright

Copyright: © 2020 Tomasini et al.

Déclaration de conflit d'intérêts

CONFLICTS OF INTEREST Authors have no conflicts of interest to declare.

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Auteurs

Pascale Tomasini (P)

Aix Marseille University, Assistance Publique Hôpitaux de Marseille, Multidisciplinary Oncology & Therapeutic Innovations Department, Marseille, France.
Predictive Oncology Laboratory, Centre de Recherche en Cancérologie de Marseille, Inserm UMR1068, CNRS UMR7258, Aix-Marseille Université UM105, Marseille, France.

Fabrice Barlesi (F)

Aix Marseille University, Assistance Publique Hôpitaux de Marseille, Multidisciplinary Oncology & Therapeutic Innovations Department, Marseille, France.
Predictive Oncology Laboratory, Centre de Recherche en Cancérologie de Marseille, Inserm UMR1068, CNRS UMR7258, Aix-Marseille Université UM105, Marseille, France.

Sophie Gilles (S)

Aix Marseille University, Assistance Publique Hôpitaux de Marseille, CHU Nord, Service de Transfert d'Oncologie Biologique, Marseille, France.

Isabelle Nanni-Metellus (I)

Aix Marseille University, Assistance Publique Hôpitaux de Marseille, CHU Nord, Service de Transfert d'Oncologie Biologique, Marseille, France.

Riccardo Soffietti (R)

Department of Neuro Oncology, University and City of Health and Science Hospital, Turin, Italy.

Emilie Denicolai (E)

Predictive Oncology Laboratory, Centre de Recherche en Cancérologie de Marseille, Inserm UMR1068, CNRS UMR7258, Aix-Marseille Université UM105, Marseille, France.

Eric Pellegrino (E)

Aix Marseille University, Assistance Publique Hôpitaux de Marseille, CHU Nord, Service de Transfert d'Oncologie Biologique, Marseille, France.

Emilie Bialecki (E)

Ramsay Santé, Hôpital Privé Clairval, Département de Neurochirurgie, Marseille, France.

L'Houcine Ouafik (L)

Aix Marseille University, Assistance Publique Hôpitaux de Marseille, CHU Nord, Service de Transfert d'Oncologie Biologique, Marseille, France.
Aix-Marseille University, CNRS UMR 7051, Institut de Neurophysiopathologie, Marseille, France.

Philippe Metellus (P)

Ramsay Santé, Hôpital Privé Clairval, Département de Neurochirurgie, Marseille, France.
Aix-Marseille University, CNRS UMR 7051, Institut de Neurophysiopathologie, Marseille, France.

Classifications MeSH