Analysis of targeted somatic mutations in pleomorphic carcinoma of the lung using next-generation sequencing technique.


Journal

Thoracic cancer
ISSN: 1759-7714
Titre abrégé: Thorac Cancer
Pays: Singapore
ID NLM: 101531441

Informations de publication

Date de publication:
08 2020
Historique:
received: 30 04 2020
revised: 25 05 2020
accepted: 26 05 2020
pubmed: 25 6 2020
medline: 13 8 2021
entrez: 25 6 2020
Statut: ppublish

Résumé

Pleomorphic carcinoma (PC) of the lung is a rare type of lung cancer with aggressive characteristics and a poor prognosis. Because it is rare, the molecular characteristics of PC remain unclear. A gene mutation analysis was performed using next-generation sequencing (NGS) in patients with PC of the lung who had undergone surgical resection. A total of nine patients were enrolled in the study. All the patients were male and eight had a history of smoking. Eight tumors contained spindle cells and three contained giant cells. Mutations considered significant were found in eight of the nine patients: in TP53 in five patients, in MET in two patients, and in ALK, ERBB2, PIK3CA, APC, NF1, and CDKN2A in one patient each. No EGFR mutation was detected in our analysis. Co-mutations were detected in three patients: TP53 with MET and NF1, TP53 with ERBB2, and PIK3CA with CDKN2A. TP53 mutations were detected most frequently in PC of the lung with NGS analysis. Different co-mutations were seen in several specimens. Significant findings of the study This study demonstrates that mutations in the TP53 gene are frequently found and co-mutations are sometimes found in pleomorphic carcinoma of the lung using genomic profiling analysis. What this study adds Our results will help to analogize the genetic characteristics and potential target of molecular-targeted agents of pleomorphic carcinoma of the lung.

Sections du résumé

BACKGROUND
Pleomorphic carcinoma (PC) of the lung is a rare type of lung cancer with aggressive characteristics and a poor prognosis. Because it is rare, the molecular characteristics of PC remain unclear.
METHODS
A gene mutation analysis was performed using next-generation sequencing (NGS) in patients with PC of the lung who had undergone surgical resection.
RESULTS
A total of nine patients were enrolled in the study. All the patients were male and eight had a history of smoking. Eight tumors contained spindle cells and three contained giant cells. Mutations considered significant were found in eight of the nine patients: in TP53 in five patients, in MET in two patients, and in ALK, ERBB2, PIK3CA, APC, NF1, and CDKN2A in one patient each. No EGFR mutation was detected in our analysis. Co-mutations were detected in three patients: TP53 with MET and NF1, TP53 with ERBB2, and PIK3CA with CDKN2A.
CONCLUSIONS
TP53 mutations were detected most frequently in PC of the lung with NGS analysis. Different co-mutations were seen in several specimens.
KEY POINTS
Significant findings of the study This study demonstrates that mutations in the TP53 gene are frequently found and co-mutations are sometimes found in pleomorphic carcinoma of the lung using genomic profiling analysis. What this study adds Our results will help to analogize the genetic characteristics and potential target of molecular-targeted agents of pleomorphic carcinoma of the lung.

Identifiants

pubmed: 32578376
doi: 10.1111/1759-7714.13536
pmc: PMC7396383
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2262-2269

Subventions

Organisme : Health Foundation
Pays : International

Informations de copyright

© 2020 The Authors. Thoracic Cancer published by China Lung Oncology Group and John Wiley & Sons Australia, Ltd.

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Auteurs

Saki Manabe (S)

Department of Thoracic Oncology, Kanagawa Cancer Center, Yokohama, Japan.

Rika Kasajima (R)

Molecular Pathology and Genetics Division, Kanagawa Cancer Center Research Institute, Yokohama, Japan.

Shuji Murakami (S)

Department of Thoracic Oncology, Kanagawa Cancer Center, Yokohama, Japan.

Yohei Miyagi (Y)

Molecular Pathology and Genetics Division, Kanagawa Cancer Center Research Institute, Yokohama, Japan.

Tomoyuki Yokose (T)

Department of Pathology, Kanagawa Cancer Center, Yokohama, Japan.

Tetsuro Kondo (T)

Department of Thoracic Oncology, Kanagawa Cancer Center, Yokohama, Japan.

Haruhiro Saito (H)

Department of Thoracic Oncology, Kanagawa Cancer Center, Yokohama, Japan.

Hiroyuki Ito (H)

Department of Thoracic Oncology, Kanagawa Cancer Center, Yokohama, Japan.

Takeshi Kaneko (T)

Department of Pulmonology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Kouzo Yamada (K)

Department of Thoracic Oncology, Kanagawa Cancer Center, Yokohama, Japan.

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