Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing
Purpose NSCLC is the most common type of lung cancers. The purpose of this study is to screen cancer-related mutations in early LUAD in China through NGS technology, determine their correlation with clinical characteristics and provide basis for treatment decisions. Methods In this study, we perform...
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description | Purpose
NSCLC is the most common type of lung cancers. The purpose of this study is to screen cancer-related mutations in early LUAD in China through NGS technology, determine their correlation with clinical characteristics and provide basis for treatment decisions.
Methods
In this study, we performed a 583 gene panel to detect the mutational spectrum of the tumors which were collected from 98 LUAD patients. The sequencing data and clinical characteristics were analyzed.
Results
Mutations were identified in 94.9% of patients.
EGFR
had the highest mutation frequency which was detected in 66% of the patients and was significantly associated with female gender and non-smoking history. Other genes with high mutation frequency were
TP53
(37%),
ERBB2
(24%),
BCOR
(22%),
ZFHX3
(19%),
BTG1
(17%),
ATR
(16%),
WWTR1
(15%), etc.
TP53
mutations were significantly associated with medium and low differentiation of tumors;
BCOR
and
BLM
mutations with gender;
WWTR1
mutations with age; and
ATR
mutations with visceral pleura invasion were observed. 61% of the patients harbored at less one actionable alteration associated with FDA-recognized or investigational drugs.
Conclusion
Multiple mutations in LUAD patients in this study have not previously been reported in NSCLC. Moreover, mutations in driver genes including
EGFR
,
TP53
,
BCOR, BLM
,
WWTR1
, and
ATR
were significantly related to clinical features. The panel used in this study is an effective approach for molecular analysis and can be applied in personalized treatment decision-making and drug development. |
doi_str_mv | 10.1007/s00432-020-03284-w |
format | Article |
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NSCLC is the most common type of lung cancers. The purpose of this study is to screen cancer-related mutations in early LUAD in China through NGS technology, determine their correlation with clinical characteristics and provide basis for treatment decisions.
Methods
In this study, we performed a 583 gene panel to detect the mutational spectrum of the tumors which were collected from 98 LUAD patients. The sequencing data and clinical characteristics were analyzed.
Results
Mutations were identified in 94.9% of patients.
EGFR
had the highest mutation frequency which was detected in 66% of the patients and was significantly associated with female gender and non-smoking history. Other genes with high mutation frequency were
TP53
(37%),
ERBB2
(24%),
BCOR
(22%),
ZFHX3
(19%),
BTG1
(17%),
ATR
(16%),
WWTR1
(15%), etc.
TP53
mutations were significantly associated with medium and low differentiation of tumors;
BCOR
and
BLM
mutations with gender;
WWTR1
mutations with age; and
ATR
mutations with visceral pleura invasion were observed. 61% of the patients harbored at less one actionable alteration associated with FDA-recognized or investigational drugs.
Conclusion
Multiple mutations in LUAD patients in this study have not previously been reported in NSCLC. Moreover, mutations in driver genes including
EGFR
,
TP53
,
BCOR, BLM
,
WWTR1
, and
ATR
were significantly related to clinical features. The panel used in this study is an effective approach for molecular analysis and can be applied in personalized treatment decision-making and drug development.</description><identifier>ISSN: 0171-5216</identifier><identifier>EISSN: 1432-1335</identifier><identifier>DOI: 10.1007/s00432-020-03284-w</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adenocarcinoma ; Cancer Research ; Decision making ; Drug development ; Epidermal growth factor receptors ; ErbB-2 protein ; Gender ; Gene frequency ; Hematology ; Internal Medicine ; Lung cancer ; Medicine ; Medicine & Public Health ; Mutation ; Next-generation sequencing ; Non-small cell lung carcinoma ; Oncology ; Original Article – Cancer Research ; p53 Protein ; Patients ; Pleura ; Tumors</subject><ispartof>Journal of cancer research and clinical oncology, 2020-09, Vol.146 (9), p.2277-2287</ispartof><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020</rights><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2020.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c352t-26610a2ec6a87007f238de7cd22048e4df46b7c2a96d8d1fd3ae15866ef6226d3</citedby><cites>FETCH-LOGICAL-c352t-26610a2ec6a87007f238de7cd22048e4df46b7c2a96d8d1fd3ae15866ef6226d3</cites><orcidid>0000-0001-7309-2178</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00432-020-03284-w$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00432-020-03284-w$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids></links><search><creatorcontrib>Zhou, Xiaoyun</creatorcontrib><creatorcontrib>Xu, Xiaohui</creatorcontrib><creatorcontrib>Tian, Zhenhuan</creatorcontrib><creatorcontrib>Xu, Wang-Yang</creatorcontrib><creatorcontrib>Cui, Yushang</creatorcontrib><title>Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing</title><title>Journal of cancer research and clinical oncology</title><addtitle>J Cancer Res Clin Oncol</addtitle><description>Purpose
NSCLC is the most common type of lung cancers. The purpose of this study is to screen cancer-related mutations in early LUAD in China through NGS technology, determine their correlation with clinical characteristics and provide basis for treatment decisions.
Methods
In this study, we performed a 583 gene panel to detect the mutational spectrum of the tumors which were collected from 98 LUAD patients. The sequencing data and clinical characteristics were analyzed.
Results
Mutations were identified in 94.9% of patients.
EGFR
had the highest mutation frequency which was detected in 66% of the patients and was significantly associated with female gender and non-smoking history. Other genes with high mutation frequency were
TP53
(37%),
ERBB2
(24%),
BCOR
(22%),
ZFHX3
(19%),
BTG1
(17%),
ATR
(16%),
WWTR1
(15%), etc.
TP53
mutations were significantly associated with medium and low differentiation of tumors;
BCOR
and
BLM
mutations with gender;
WWTR1
mutations with age; and
ATR
mutations with visceral pleura invasion were observed. 61% of the patients harbored at less one actionable alteration associated with FDA-recognized or investigational drugs.
Conclusion
Multiple mutations in LUAD patients in this study have not previously been reported in NSCLC. Moreover, mutations in driver genes including
EGFR
,
TP53
,
BCOR, BLM
,
WWTR1
, and
ATR
were significantly related to clinical features. The panel used in this study is an effective approach for molecular analysis and can be applied in personalized treatment decision-making and drug development.</description><subject>Adenocarcinoma</subject><subject>Cancer Research</subject><subject>Decision making</subject><subject>Drug development</subject><subject>Epidermal growth factor receptors</subject><subject>ErbB-2 protein</subject><subject>Gender</subject><subject>Gene frequency</subject><subject>Hematology</subject><subject>Internal Medicine</subject><subject>Lung cancer</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Next-generation sequencing</subject><subject>Non-small cell lung carcinoma</subject><subject>Oncology</subject><subject>Original Article – Cancer Research</subject><subject>p53 Protein</subject><subject>Patients</subject><subject>Pleura</subject><subject>Tumors</subject><issn>0171-5216</issn><issn>1432-1335</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp9kD9PwzAQxS0EEqXwBZgssbAE7HNipyOq-CcVscDEYLn2JaRKnWInKv32uAQJiYHpdKffe6f3CDnn7Iozpq4jY7mAjAHLmIAyz7YHZML3Jy5EcUgmjCueFcDlMTmJccXSXiiYkLenoTd903nT0k3oqqZtfE27irZDmsah76wJtvHd2tDG0_l74w112KPt0dHljnr87LMaPYZvHxrxY0CfFPUpOapMG_HsZ07J693ty_whWzzfP85vFpkVBfQZSMmZAbTSlCqFqUCUDpV1ACwvMXdVLpfKgplJVzpeOWGQF6WUWEkA6cSUXI6-KUD6HXu9bqLFtjUeuyFqyLkEJZRSCb34g666IaTwewpkmRqb8UTBSNnQxRiw0pvQrE3Yac70vm899q1T3_q7b71NIjGKYoJ9jeHX-h_VF0Qig9U</recordid><startdate>20200901</startdate><enddate>20200901</enddate><creator>Zhou, Xiaoyun</creator><creator>Xu, Xiaohui</creator><creator>Tian, Zhenhuan</creator><creator>Xu, Wang-Yang</creator><creator>Cui, Yushang</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TO</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-7309-2178</orcidid></search><sort><creationdate>20200901</creationdate><title>Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing</title><author>Zhou, Xiaoyun ; Xu, Xiaohui ; Tian, Zhenhuan ; Xu, Wang-Yang ; Cui, Yushang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c352t-26610a2ec6a87007f238de7cd22048e4df46b7c2a96d8d1fd3ae15866ef6226d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adenocarcinoma</topic><topic>Cancer Research</topic><topic>Decision making</topic><topic>Drug development</topic><topic>Epidermal growth factor receptors</topic><topic>ErbB-2 protein</topic><topic>Gender</topic><topic>Gene frequency</topic><topic>Hematology</topic><topic>Internal Medicine</topic><topic>Lung cancer</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Next-generation sequencing</topic><topic>Non-small cell lung carcinoma</topic><topic>Oncology</topic><topic>Original Article – Cancer Research</topic><topic>p53 Protein</topic><topic>Patients</topic><topic>Pleura</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhou, Xiaoyun</creatorcontrib><creatorcontrib>Xu, Xiaohui</creatorcontrib><creatorcontrib>Tian, Zhenhuan</creatorcontrib><creatorcontrib>Xu, Wang-Yang</creatorcontrib><creatorcontrib>Cui, Yushang</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of cancer research and clinical oncology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhou, Xiaoyun</au><au>Xu, Xiaohui</au><au>Tian, Zhenhuan</au><au>Xu, Wang-Yang</au><au>Cui, Yushang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing</atitle><jtitle>Journal of cancer research and clinical oncology</jtitle><stitle>J Cancer Res Clin Oncol</stitle><date>2020-09-01</date><risdate>2020</risdate><volume>146</volume><issue>9</issue><spage>2277</spage><epage>2287</epage><pages>2277-2287</pages><issn>0171-5216</issn><eissn>1432-1335</eissn><abstract>Purpose
NSCLC is the most common type of lung cancers. The purpose of this study is to screen cancer-related mutations in early LUAD in China through NGS technology, determine their correlation with clinical characteristics and provide basis for treatment decisions.
Methods
In this study, we performed a 583 gene panel to detect the mutational spectrum of the tumors which were collected from 98 LUAD patients. The sequencing data and clinical characteristics were analyzed.
Results
Mutations were identified in 94.9% of patients.
EGFR
had the highest mutation frequency which was detected in 66% of the patients and was significantly associated with female gender and non-smoking history. Other genes with high mutation frequency were
TP53
(37%),
ERBB2
(24%),
BCOR
(22%),
ZFHX3
(19%),
BTG1
(17%),
ATR
(16%),
WWTR1
(15%), etc.
TP53
mutations were significantly associated with medium and low differentiation of tumors;
BCOR
and
BLM
mutations with gender;
WWTR1
mutations with age; and
ATR
mutations with visceral pleura invasion were observed. 61% of the patients harbored at less one actionable alteration associated with FDA-recognized or investigational drugs.
Conclusion
Multiple mutations in LUAD patients in this study have not previously been reported in NSCLC. Moreover, mutations in driver genes including
EGFR
,
TP53
,
BCOR, BLM
,
WWTR1
, and
ATR
were significantly related to clinical features. The panel used in this study is an effective approach for molecular analysis and can be applied in personalized treatment decision-making and drug development.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><doi>10.1007/s00432-020-03284-w</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0001-7309-2178</orcidid></addata></record> |
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subjects | Adenocarcinoma Cancer Research Decision making Drug development Epidermal growth factor receptors ErbB-2 protein Gender Gene frequency Hematology Internal Medicine Lung cancer Medicine Medicine & Public Health Mutation Next-generation sequencing Non-small cell lung carcinoma Oncology Original Article – Cancer Research p53 Protein Patients Pleura Tumors |
title | Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing |
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