CADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis

Introduction: To investigate the genomic profiles of patients with lung cancer with idiopathic pulmonary fibrosis (IPF-LC), mechanism of carcinogenesis, and potential therapeutic targets. Methods: We analyzed 29 matched, surgically resected, cancerous and noncancerous lung tissues (19 IPF-LC and 10...

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Autores principales:	Aya Fukuizumi, MD, Rintaro Noro, MD, PhD, Masahiro Seike, MD, PhD, Akihiko Miyanaga, MD, PhD, Yuji Minegishi, MD, PhD, Miwako Omori, MD, Mamiko Hirao, Kuniko Matsuda, Shinobu Kunugi, MD, PhD, Kazutaka Nishiwaki, Masahiro Morimoto, Haruka Motohashi, Hayato Ohwada, PhD, Jitsuo Usuda, MD, PhD, Akihiko Gemma, MD, PhD
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	CADM1 SPC25 Whole-exome sequencing Lung cancer Idiopathic pulmonary fibrosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/790906db2fa7483283e2b97f1365bd03
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spelling	oai:doaj.org-article:790906db2fa7483283e2b97f1365bd032021-12-02T05:03:45ZCADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis2666-364310.1016/j.jtocrr.2021.100232https://doaj.org/article/790906db2fa7483283e2b97f1365bd032021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2666364321000916https://doaj.org/toc/2666-3643Introduction: To investigate the genomic profiles of patients with lung cancer with idiopathic pulmonary fibrosis (IPF-LC), mechanism of carcinogenesis, and potential therapeutic targets. Methods: We analyzed 29 matched, surgically resected, cancerous and noncancerous lung tissues (19 IPF-LC and 10 non–IPF-LC) by whole-exome sequencing and bioinformatics analysis and established a medical-engineering collaboration with the Department of Engineering of the Tokyo University of Science. Results: In IPF-LC, CADM1 and SPC25 were mutated at a frequency of 47% (9 of 19) and 53% (10 of 19), respectively. Approximately one-third of the IPF-LC cases (7 of 19; 36%) had both mutations. Pathway analysis revealed that these two genes are involved in transforming growth factor-β1 signaling. CADM1 and SPC25 gene mutations decreased the expression of CADM1 and increased that of SPC25 revealing transforming growth factor-β1–induced epithelial-to-mesenchymal transition and cell proliferation in lung cancer cells. Furthermore, treatment with paclitaxel and DNMT1 inhibitor suppressed SPC25 expression. Conclusions: CADM1 and SPC25 gene mutations may be novel diagnostic markers and therapeutic targets for IPF-LC.Aya Fukuizumi, MDRintaro Noro, MD, PhDMasahiro Seike, MD, PhDAkihiko Miyanaga, MD, PhDYuji Minegishi, MD, PhDMiwako Omori, MDMamiko HiraoKuniko MatsudaShinobu Kunugi, MD, PhDKazutaka NishiwakiMasahiro MorimotoHaruka MotohashiHayato Ohwada, PhDJitsuo Usuda, MD, PhDAkihiko Gemma, MD, PhDElsevierarticleCADM1SPC25Whole-exome sequencingLung cancerIdiopathic pulmonary fibrosisNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENJTO Clinical and Research Reports, Vol 2, Iss 11, Pp 100232- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	CADM1 SPC25 Whole-exome sequencing Lung cancer Idiopathic pulmonary fibrosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	CADM1 SPC25 Whole-exome sequencing Lung cancer Idiopathic pulmonary fibrosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Aya Fukuizumi, MD Rintaro Noro, MD, PhD Masahiro Seike, MD, PhD Akihiko Miyanaga, MD, PhD Yuji Minegishi, MD, PhD Miwako Omori, MD Mamiko Hirao Kuniko Matsuda Shinobu Kunugi, MD, PhD Kazutaka Nishiwaki Masahiro Morimoto Haruka Motohashi Hayato Ohwada, PhD Jitsuo Usuda, MD, PhD Akihiko Gemma, MD, PhD CADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis
description	Introduction: To investigate the genomic profiles of patients with lung cancer with idiopathic pulmonary fibrosis (IPF-LC), mechanism of carcinogenesis, and potential therapeutic targets. Methods: We analyzed 29 matched, surgically resected, cancerous and noncancerous lung tissues (19 IPF-LC and 10 non–IPF-LC) by whole-exome sequencing and bioinformatics analysis and established a medical-engineering collaboration with the Department of Engineering of the Tokyo University of Science. Results: In IPF-LC, CADM1 and SPC25 were mutated at a frequency of 47% (9 of 19) and 53% (10 of 19), respectively. Approximately one-third of the IPF-LC cases (7 of 19; 36%) had both mutations. Pathway analysis revealed that these two genes are involved in transforming growth factor-β1 signaling. CADM1 and SPC25 gene mutations decreased the expression of CADM1 and increased that of SPC25 revealing transforming growth factor-β1–induced epithelial-to-mesenchymal transition and cell proliferation in lung cancer cells. Furthermore, treatment with paclitaxel and DNMT1 inhibitor suppressed SPC25 expression. Conclusions: CADM1 and SPC25 gene mutations may be novel diagnostic markers and therapeutic targets for IPF-LC.
format	article
author	Aya Fukuizumi, MD Rintaro Noro, MD, PhD Masahiro Seike, MD, PhD Akihiko Miyanaga, MD, PhD Yuji Minegishi, MD, PhD Miwako Omori, MD Mamiko Hirao Kuniko Matsuda Shinobu Kunugi, MD, PhD Kazutaka Nishiwaki Masahiro Morimoto Haruka Motohashi Hayato Ohwada, PhD Jitsuo Usuda, MD, PhD Akihiko Gemma, MD, PhD
author_facet	Aya Fukuizumi, MD Rintaro Noro, MD, PhD Masahiro Seike, MD, PhD Akihiko Miyanaga, MD, PhD Yuji Minegishi, MD, PhD Miwako Omori, MD Mamiko Hirao Kuniko Matsuda Shinobu Kunugi, MD, PhD Kazutaka Nishiwaki Masahiro Morimoto Haruka Motohashi Hayato Ohwada, PhD Jitsuo Usuda, MD, PhD Akihiko Gemma, MD, PhD
author_sort	Aya Fukuizumi, MD
title	CADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis
title_short	CADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis
title_full	CADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis
title_fullStr	CADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis
title_full_unstemmed	CADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis
title_sort	cadm1 and spc25 gene mutations in lung cancer patients with idiopathic pulmonary fibrosis
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/790906db2fa7483283e2b97f1365bd03
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CADM1 and SPC25 Gene Mutations in Lung Cancer Patients With Idiopathic Pulmonary Fibrosis

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