Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling

Introduction: In cases of lung tumors that occur after treatment for malignancies in other organs, the tumor may represent either a primary lung cancer or a solitary pulmonary metastasis from the other tumor. Because some lung tumors are difficult to differentiate on the basis of imaging and patholo...

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Autores principales:	Rumi Higuchi, MD, Taichiro Goto, MD, PhD, Takahiro Nakagomi, MD, Yosuke Hirotsu, PhD, Toshio Oyama, MD, Kenji Amemiya, PhD, Hitoshi Mochizuki, MD, Masao Omata, MD, PhD
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Lung cancer Metastasis Sequencing Mutation Genomic diagnosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/8af76ad3cb0d45d3a925396e89448950
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spelling	oai:doaj.org-article:8af76ad3cb0d45d3a925396e894489502021-11-28T04:38:45ZDiscrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling2666-364310.1016/j.jtocrr.2021.100255https://doaj.org/article/8af76ad3cb0d45d3a925396e894489502021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2666364321001144https://doaj.org/toc/2666-3643Introduction: In cases of lung tumors that occur after treatment for malignancies in other organs, the tumor may represent either a primary lung cancer or a solitary pulmonary metastasis from the other tumor. Because some lung tumors are difficult to differentiate on the basis of imaging and pathologic findings, treatment selection is often difficult. In this study, we attempted to make a genomic diagnosis of primary and metastatic lung tumors by analyzing tumor samples using next-generation sequencing and evaluated the efficacy and validity of the genomic diagnosis. Methods: A total of 24 patients with a solitary lung nodule and a history of other malignancies were enrolled in this study. Tumor cells were selected from tissue samples using laser capture microdissection. DNA was extracted from those cells and subjected to targeted deep sequencing of 53 genes. Results: The driver mutation profiles of the primary lung tumors were discordant from those of the primary tumors in other sites, whereas the mutation profiles of pulmonary metastases and previous malignancies were concordant. In all 24 patients, we could diagnose either primary lung cancer (six patients) or lung metastases (18 patients) on the basis of whether gene mutation profiles were concordant or discordant. In 12 patients (50.0%), discrepancies were observed between the genomic and clinical or histopathologic diagnoses. Conclusions: In patients with a solitary lung lesion and a history of cancer, tumor-specific mutations can serve as clonal markers, affording a more accurate understanding of the pathological condition and thus possibly improving both treatment selection and patient outcome.Rumi Higuchi, MDTaichiro Goto, MD, PhDTakahiro Nakagomi, MDYosuke Hirotsu, PhDToshio Oyama, MDKenji Amemiya, PhDHitoshi Mochizuki, MDMasao Omata, MD, PhDElsevierarticleLung cancerMetastasisSequencingMutationGenomic diagnosisNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENJTO Clinical and Research Reports, Vol 2, Iss 12, Pp 100255- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Lung cancer Metastasis Sequencing Mutation Genomic diagnosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Lung cancer Metastasis Sequencing Mutation Genomic diagnosis Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Rumi Higuchi, MD Taichiro Goto, MD, PhD Takahiro Nakagomi, MD Yosuke Hirotsu, PhD Toshio Oyama, MD Kenji Amemiya, PhD Hitoshi Mochizuki, MD Masao Omata, MD, PhD Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling
description	Introduction: In cases of lung tumors that occur after treatment for malignancies in other organs, the tumor may represent either a primary lung cancer or a solitary pulmonary metastasis from the other tumor. Because some lung tumors are difficult to differentiate on the basis of imaging and pathologic findings, treatment selection is often difficult. In this study, we attempted to make a genomic diagnosis of primary and metastatic lung tumors by analyzing tumor samples using next-generation sequencing and evaluated the efficacy and validity of the genomic diagnosis. Methods: A total of 24 patients with a solitary lung nodule and a history of other malignancies were enrolled in this study. Tumor cells were selected from tissue samples using laser capture microdissection. DNA was extracted from those cells and subjected to targeted deep sequencing of 53 genes. Results: The driver mutation profiles of the primary lung tumors were discordant from those of the primary tumors in other sites, whereas the mutation profiles of pulmonary metastases and previous malignancies were concordant. In all 24 patients, we could diagnose either primary lung cancer (six patients) or lung metastases (18 patients) on the basis of whether gene mutation profiles were concordant or discordant. In 12 patients (50.0%), discrepancies were observed between the genomic and clinical or histopathologic diagnoses. Conclusions: In patients with a solitary lung lesion and a history of cancer, tumor-specific mutations can serve as clonal markers, affording a more accurate understanding of the pathological condition and thus possibly improving both treatment selection and patient outcome.
format	article
author	Rumi Higuchi, MD Taichiro Goto, MD, PhD Takahiro Nakagomi, MD Yosuke Hirotsu, PhD Toshio Oyama, MD Kenji Amemiya, PhD Hitoshi Mochizuki, MD Masao Omata, MD, PhD
author_facet	Rumi Higuchi, MD Taichiro Goto, MD, PhD Takahiro Nakagomi, MD Yosuke Hirotsu, PhD Toshio Oyama, MD Kenji Amemiya, PhD Hitoshi Mochizuki, MD Masao Omata, MD, PhD
author_sort	Rumi Higuchi, MD
title	Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling
title_short	Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling
title_full	Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling
title_fullStr	Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling
title_full_unstemmed	Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling
title_sort	discrimination between primary lung cancer and lung metastases by genomic profiling
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/8af76ad3cb0d45d3a925396e89448950
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Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling

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