Next-generation sequencing reveals high concordance of recurrent somatic alterations between primary tumor and metastases from patients with non-small-cell lung cancer

Characterization of the genomic changes that drive an individual patient's disease is critical in management of many cancers. In patients with non-small-cell lung cancer (NSCLC), obtaining tumor samples of sufficient size for genomic profiling on recurrence is often challenging. We undertook th...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	Journal of clinical oncology Ročník 31; číslo 17; s. 2167
Hlavní autoři:	Vignot, Stéphane, Frampton, Garrett M, Soria, Jean-Charles, Yelensky, Roman, Commo, Frédéric, Brambilla, Christian, Palmer, Gary, Moro-Sibilot, Denis, Ross, Jeffrey S, Cronin, Maureen T, André, Fabrice, Stephens, Philip J, Lazar, Vladimir, Miller, Vincent A, Brambilla, Elisabeth
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States 10.06.2013
Témata:	Adult Aged Aged, 80 and over Base Sequence Carcinoma, Non-Small-Cell Lung - genetics Carcinoma, Non-Small-Cell Lung - pathology DNA Copy Number Variations DNA, Neoplasm - genetics Female Humans Lung Neoplasms - genetics Lung Neoplasms - pathology Male Middle Aged Mutation Neoplasm Metastasis
ISSN:	1527-7755, 1527-7755
On-line přístup:	Zjistit podrobnosti o přístupu
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Abstract	Characterization of the genomic changes that drive an individual patient's disease is critical in management of many cancers. In patients with non-small-cell lung cancer (NSCLC), obtaining tumor samples of sufficient size for genomic profiling on recurrence is often challenging. We undertook this study to compare genomic alterations identified in archived primary tumors from patients with NSCLC with those identified in metachronous or synchronous metastases. Primary and matched metastatic tumor pairs from 15 patients were analyzed by using a targeted next-generation sequencing assay in a Clinical Laboratory Improvement Amendments laboratory. Genomic libraries were captured for 3,230 exons in 182 cancer-related genes plus 37 introns from 14 genes often rearranged in cancer and sequenced to high coverage. Among 30 tumors, 311 genomic alterations were identified of which 63 were known recurrent (32 in primary tumor, 31 in metastasis) and 248 were nonrecurrent (likely passenger). TP53 mutations were the most frequently observed recurrent alterations (12 patients). Tumors harbored two or more (maximum four) recurrent alterations in 10 patients. Comparative analysis of recurrent alterations between primary tumor and matched metastasis revealed a concordance rate of 94% compared with 63% for likely passenger alterations. This high concordance suggests that for the purposes of genomic profiling, use of archived primary tumor can identify the key recurrent somatic alterations present in matched NSCLC metastases and may provide much of the relevant genomic information required to guide treatment on recurrence.
AbstractList	Characterization of the genomic changes that drive an individual patient's disease is critical in management of many cancers. In patients with non-small-cell lung cancer (NSCLC), obtaining tumor samples of sufficient size for genomic profiling on recurrence is often challenging. We undertook this study to compare genomic alterations identified in archived primary tumors from patients with NSCLC with those identified in metachronous or synchronous metastases.PURPOSECharacterization of the genomic changes that drive an individual patient's disease is critical in management of many cancers. In patients with non-small-cell lung cancer (NSCLC), obtaining tumor samples of sufficient size for genomic profiling on recurrence is often challenging. We undertook this study to compare genomic alterations identified in archived primary tumors from patients with NSCLC with those identified in metachronous or synchronous metastases.Primary and matched metastatic tumor pairs from 15 patients were analyzed by using a targeted next-generation sequencing assay in a Clinical Laboratory Improvement Amendments laboratory. Genomic libraries were captured for 3,230 exons in 182 cancer-related genes plus 37 introns from 14 genes often rearranged in cancer and sequenced to high coverage.PATIENTS AND METHODSPrimary and matched metastatic tumor pairs from 15 patients were analyzed by using a targeted next-generation sequencing assay in a Clinical Laboratory Improvement Amendments laboratory. Genomic libraries were captured for 3,230 exons in 182 cancer-related genes plus 37 introns from 14 genes often rearranged in cancer and sequenced to high coverage.Among 30 tumors, 311 genomic alterations were identified of which 63 were known recurrent (32 in primary tumor, 31 in metastasis) and 248 were nonrecurrent (likely passenger). TP53 mutations were the most frequently observed recurrent alterations (12 patients). Tumors harbored two or more (maximum four) recurrent alterations in 10 patients. Comparative analysis of recurrent alterations between primary tumor and matched metastasis revealed a concordance rate of 94% compared with 63% for likely passenger alterations.RESULTSAmong 30 tumors, 311 genomic alterations were identified of which 63 were known recurrent (32 in primary tumor, 31 in metastasis) and 248 were nonrecurrent (likely passenger). TP53 mutations were the most frequently observed recurrent alterations (12 patients). Tumors harbored two or more (maximum four) recurrent alterations in 10 patients. Comparative analysis of recurrent alterations between primary tumor and matched metastasis revealed a concordance rate of 94% compared with 63% for likely passenger alterations.This high concordance suggests that for the purposes of genomic profiling, use of archived primary tumor can identify the key recurrent somatic alterations present in matched NSCLC metastases and may provide much of the relevant genomic information required to guide treatment on recurrence.CONCLUSIONThis high concordance suggests that for the purposes of genomic profiling, use of archived primary tumor can identify the key recurrent somatic alterations present in matched NSCLC metastases and may provide much of the relevant genomic information required to guide treatment on recurrence. Characterization of the genomic changes that drive an individual patient's disease is critical in management of many cancers. In patients with non-small-cell lung cancer (NSCLC), obtaining tumor samples of sufficient size for genomic profiling on recurrence is often challenging. We undertook this study to compare genomic alterations identified in archived primary tumors from patients with NSCLC with those identified in metachronous or synchronous metastases. Primary and matched metastatic tumor pairs from 15 patients were analyzed by using a targeted next-generation sequencing assay in a Clinical Laboratory Improvement Amendments laboratory. Genomic libraries were captured for 3,230 exons in 182 cancer-related genes plus 37 introns from 14 genes often rearranged in cancer and sequenced to high coverage. Among 30 tumors, 311 genomic alterations were identified of which 63 were known recurrent (32 in primary tumor, 31 in metastasis) and 248 were nonrecurrent (likely passenger). TP53 mutations were the most frequently observed recurrent alterations (12 patients). Tumors harbored two or more (maximum four) recurrent alterations in 10 patients. Comparative analysis of recurrent alterations between primary tumor and matched metastasis revealed a concordance rate of 94% compared with 63% for likely passenger alterations. This high concordance suggests that for the purposes of genomic profiling, use of archived primary tumor can identify the key recurrent somatic alterations present in matched NSCLC metastases and may provide much of the relevant genomic information required to guide treatment on recurrence.
Author	Lazar, Vladimir Yelensky, Roman Soria, Jean-Charles Brambilla, Christian Moro-Sibilot, Denis Vignot, Stéphane Frampton, Garrett M André, Fabrice Palmer, Gary Miller, Vincent A Commo, Frédéric Ross, Jeffrey S Cronin, Maureen T Brambilla, Elisabeth Stephens, Philip J
Author_xml	– sequence: 1 givenname: Stéphane surname: Vignot fullname: Vignot, Stéphane organization: Institut National de la Santé et de la Recherche Médicale (INSERM) U981, Villejuif, France – sequence: 2 givenname: Garrett M surname: Frampton fullname: Frampton, Garrett M – sequence: 3 givenname: Jean-Charles surname: Soria fullname: Soria, Jean-Charles – sequence: 4 givenname: Roman surname: Yelensky fullname: Yelensky, Roman – sequence: 5 givenname: Frédéric surname: Commo fullname: Commo, Frédéric – sequence: 6 givenname: Christian surname: Brambilla fullname: Brambilla, Christian – sequence: 7 givenname: Gary surname: Palmer fullname: Palmer, Gary – sequence: 8 givenname: Denis surname: Moro-Sibilot fullname: Moro-Sibilot, Denis – sequence: 9 givenname: Jeffrey S surname: Ross fullname: Ross, Jeffrey S – sequence: 10 givenname: Maureen T surname: Cronin fullname: Cronin, Maureen T – sequence: 11 givenname: Fabrice surname: André fullname: André, Fabrice – sequence: 12 givenname: Philip J surname: Stephens fullname: Stephens, Philip J – sequence: 13 givenname: Vladimir surname: Lazar fullname: Lazar, Vladimir – sequence: 14 givenname: Vincent A surname: Miller fullname: Miller, Vincent A – sequence: 15 givenname: Elisabeth surname: Brambilla fullname: Brambilla, Elisabeth
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/23630207$$D View this record in MEDLINE/PubMed
BookMark	eNpNUMtOxDAMjBCI950T8pFLlzyapj2iFU8huMB5lSbublGbLEnK44v4TYJYJCRLtuSZ8YwPyLbzDgk5YXTGOKXnd_PHGaeMz0o1U0qoLbLPJFeFUlJu_5v3yEGML5SyshZyl-xxUQnKqdonXw_4kYolOgw69d5BxNcJnendEgK-oR4irPrlCox3xgernUHwXd6ZKQR0CaIfM9OAHtJGI0KL6R3RwTr0ow6fkKbRB9DOwohJx1wYoQt-hHVmZJUI731aQY5XxFEPQ2FwGGCYsgvzczIckZ0ue8HjTT8kz1eXT_Ob4v7x-nZ-cV-YkopUCMsb2rastaIRZVnRTkpkjGLd2spWoilRSMONkA1qVjNe06pjleK2MVLYjh-Ss1_ddfD5ETEtxj7-mNEO_RQXTFSVVKqpRYaebqBTO6JdbMIu_p7LvwHknoIU
CitedBy_id	crossref_primary_10_2217_fon_2021_0764 crossref_primary_10_1158_1078_0432_CCR_15_1668 crossref_primary_10_1016_j_molonc_2014_09_011 crossref_primary_10_2217_fon_14_275 crossref_primary_10_1007_s40291_020_00471_w crossref_primary_10_2196_resprot_6024 crossref_primary_10_1186_s13046_015_0207_9 crossref_primary_10_3390_jpm14030257 crossref_primary_10_5858_arpa_2016_0387_RA crossref_primary_10_1007_s13691_018_0325_2 crossref_primary_10_1016_j_molmed_2024_09_008 crossref_primary_10_1186_s13000_017_0621_8 crossref_primary_10_3389_fonc_2023_1104659 crossref_primary_10_1093_pcmedi_pbad029 crossref_primary_10_1634_theoncologist_2013_0405 crossref_primary_10_3389_fonc_2020_614430 crossref_primary_10_1080_1061186X_2017_1419363 crossref_primary_10_1634_theoncologist_2016_0049 crossref_primary_10_1186_s12885_020_06810_8 crossref_primary_10_1016_j_critrevonc_2015_03_005 crossref_primary_10_1007_s12032_013_0742_1 crossref_primary_10_1038_modpathol_2016_66 crossref_primary_10_1002_cncr_28424 crossref_primary_10_1016_j_eururo_2017_05_033 crossref_primary_10_1186_s12885_021_07892_8 crossref_primary_10_1016_j_ctarc_2021_100484 crossref_primary_10_1016_j_jtho_2019_05_008 crossref_primary_10_1038_ncomms13200 crossref_primary_10_1038_onc_2014_314 crossref_primary_10_1001_jama_2019_3241 crossref_primary_10_1186_1479_7364_8_14 crossref_primary_10_1002_cjp2_45 crossref_primary_10_1371_journal_pone_0142631 crossref_primary_10_1016_j_lungcan_2013_12_010 crossref_primary_10_1371_journal_pone_0163859 crossref_primary_10_1016_j_jtho_2017_06_012 crossref_primary_10_1136_jcp_2023_209328 crossref_primary_10_1016_j_jmoldx_2017_07_006 crossref_primary_10_1088_0031_9155_61_20_7282 crossref_primary_10_3390_cancers15030722 crossref_primary_10_1186_s13046_022_02361_x crossref_primary_10_1371_journal_pone_0182741 crossref_primary_10_1309_AJCPMY8UI7WSFSYY crossref_primary_10_1111_cas_13797 crossref_primary_10_1016_j_ygyno_2013_06_019 crossref_primary_10_1016_j_drudis_2015_07_016 crossref_primary_10_1586_14737159_2014_916213 crossref_primary_10_1016_j_hoc_2016_08_003 crossref_primary_10_1007_s00259_016_3433_2 crossref_primary_10_1586_14737159_2015_961916 crossref_primary_10_1016_j_stem_2015_08_014 crossref_primary_10_1371_journal_pone_0223827 crossref_primary_10_1158_1078_0432_CCR_14_2391 crossref_primary_10_1186_1755_8794_7_S1_S1 crossref_primary_10_1002_path_4276 crossref_primary_10_1111_1759_7714_13618 crossref_primary_10_1097_JN9_0000000000000013 crossref_primary_10_1038_nrclinonc_2014_202 crossref_primary_10_1093_ajcp_aqz077 crossref_primary_10_1183_09031936_00197013 crossref_primary_10_1016_j_jtho_2017_10_019 crossref_primary_10_1111_ajco_13743 crossref_primary_10_1139_cjpp_2016_0079 crossref_primary_10_1097_JTO_0000000000000203 crossref_primary_10_1016_j_bbrep_2025_102004 crossref_primary_10_3748_wjg_v27_i34_5666 crossref_primary_10_2217_lmt_14_34 crossref_primary_10_1089_thy_2015_0527 crossref_primary_10_3389_fonc_2021_653988 crossref_primary_10_1002_cac2_12237 crossref_primary_10_1158_2159_8290_CD_14_0377 crossref_primary_10_2147_LCTT_S272518 crossref_primary_10_1016_j_ejca_2015_02_012 crossref_primary_10_1002_mgg3_210 crossref_primary_10_1634_theoncologist_2015_0511 crossref_primary_10_1038_s41379_018_0042_6 crossref_primary_10_1080_15321819_2020_1779740 crossref_primary_10_1016_j_imu_2018_05_003 crossref_primary_10_1038_ncomms10131 crossref_primary_10_1007_s00268_019_05162_0 crossref_primary_10_1038_s41698_021_00201_3 crossref_primary_10_1007_s00432_019_02978_0 crossref_primary_10_1016_j_jtho_2016_01_025 crossref_primary_10_1016_S1773_035X_14_72315_9 crossref_primary_10_1002_cncy_22900 crossref_primary_10_1016_j_lungcan_2018_05_029 crossref_primary_10_1016_j_semradonc_2014_12_007 crossref_primary_10_1371_journal_pcbi_1005965 crossref_primary_10_3923_ijp_2017_709_723 crossref_primary_10_1016_j_hpb_2021_11_008 crossref_primary_10_1684_bdc_2013_1767 crossref_primary_10_1002_jso_25097 crossref_primary_10_1111_apm_12293 crossref_primary_10_1093_ajcp_aqv013 crossref_primary_10_1097_CCO_0000000000000078 crossref_primary_10_1097_PAP_0000000000000115 crossref_primary_10_1002_ijc_34994 crossref_primary_10_1016_j_trsl_2019_07_003 crossref_primary_10_1371_journal_pone_0126670 crossref_primary_10_1093_carcin_bgv026 crossref_primary_10_1016_j_cancergen_2013_11_002 crossref_primary_10_1186_s12885_015_1192_2 crossref_primary_10_1016_j_jid_2016_05_103 crossref_primary_10_1038_oncsis_2015_29 crossref_primary_10_3892_ijo_2015_3148 crossref_primary_10_1038_bjc_2014_211 crossref_primary_10_1007_s13167_018_0128_8 crossref_primary_10_1002_1878_0261_12190 crossref_primary_10_1158_0008_5472_CAN_18_1086 crossref_primary_10_1016_j_cdtm_2017_02_009 crossref_primary_10_1002_dc_23264 crossref_primary_10_1016_j_prro_2018_11_010 crossref_primary_10_1111_his_13215 crossref_primary_10_1016_j_path_2019_10_003 crossref_primary_10_1186_s12885_016_2249_6 crossref_primary_10_12659_AJCR_903581 crossref_primary_10_1016_j_jtho_2016_05_008
ContentType	Journal Article
DBID	CGR CUY CVF ECM EIF NPM 7X8
DOI	10.1200/JCO.2012.47.7737
DatabaseName	Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed MEDLINE - Academic
DatabaseTitle	MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) MEDLINE - Academic
DatabaseTitleList	MEDLINE - Academic MEDLINE
Database_xml	– sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: 7X8 name: MEDLINE - Academic url: https://search.proquest.com/medline sourceTypes: Aggregation Database
DeliveryMethod	no_fulltext_linktorsrc
Discipline	Medicine Pharmacy, Therapeutics, & Pharmacology
EISSN	1527-7755
ExternalDocumentID	23630207
Genre	Research Support, Non-U.S. Gov't Journal Article
GroupedDBID	--- .55 0R~ 18M 2WC 34G 39C 4.4 53G 5GY 5RE 8F7 AARDX AAWTL AAYEP AAYOK ABJNI ABOCM ACGFO ACGFS ACGUR ADBBV AEGXH AENEX AIAGR ALMA_UNASSIGNED_HOLDINGS BAWUL C45 CGR CS3 CUY CVF DIK EBS ECM EIF EJD F5P F9R FBNNL FD8 GX1 H13 HZ~ IH2 KQ8 L7B LSO MJL N9A NPM O9- OK1 OVD OWW P2P QTD R1G RHI RLZ RUC SJN TEORI TR2 TWZ UDS VVN WH7 X7M YCJ YFH YQY 7X8 ABBLC
ID	FETCH-LOGICAL-c403t-3d290bb1bd3934460f55e110e8bd6d6394e35c2c359ea1812806f1672d9c53df2
IEDL.DBID	7X8
ISICitedReferencesCount	140
ISICitedReferencesURI	http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000320104400025&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
ISSN	1527-7755
IngestDate	Fri Sep 05 12:29:47 EDT 2025 Thu Apr 03 07:09:38 EDT 2025
IsDoiOpenAccess	false
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Issue	17
Language	English
LinkModel	DirectLink
MergedId	FETCHMERGED-LOGICAL-c403t-3d290bb1bd3934460f55e110e8bd6d6394e35c2c359ea1812806f1672d9c53df2
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
OpenAccessLink	https://zenodo.org/record/3445174
PMID	23630207
PQID	1366577983
PQPubID	23479
ParticipantIDs	proquest_miscellaneous_1366577983 pubmed_primary_23630207
PublicationCentury	2000
PublicationDate	2013-06-10
PublicationDateYYYYMMDD	2013-06-10
PublicationDate_xml	– month: 06 year: 2013 text: 2013-06-10 day: 10
PublicationDecade	2010
PublicationPlace	United States
PublicationPlace_xml	– name: United States
PublicationTitle	Journal of clinical oncology
PublicationTitleAlternate	J Clin Oncol
PublicationYear	2013
References	24952759 - Semin Thorac Cardiovasc Surg. 2014 Spring;26(1):67-70
References_xml	– reference: 24952759 - Semin Thorac Cardiovasc Surg. 2014 Spring;26(1):67-70
SSID	ssj0014835
Score	2.4912891
Snippet	Characterization of the genomic changes that drive an individual patient's disease is critical in management of many cancers. In patients with non-small-cell...
SourceID	proquest pubmed
SourceType	Aggregation Database Index Database
StartPage	2167
SubjectTerms	Adult Aged Aged, 80 and over Base Sequence Carcinoma, Non-Small-Cell Lung - genetics Carcinoma, Non-Small-Cell Lung - pathology DNA Copy Number Variations DNA, Neoplasm - genetics Female Humans Lung Neoplasms - genetics Lung Neoplasms - pathology Male Middle Aged Mutation Neoplasm Metastasis
Title	Next-generation sequencing reveals high concordance of recurrent somatic alterations between primary tumor and metastases from patients with non-small-cell lung cancer
URI	https://www.ncbi.nlm.nih.gov/pubmed/23630207 https://www.proquest.com/docview/1366577983
Volume	31
WOSCitedRecordID	wos000320104400025&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
hasFullText
inHoldings	1
isFullTextHit
isPrint
link	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1NT9wwELUKVIgLLd_QFk2lihNms3Ycx6eqQkUVgu0eAO1tldgOQtpNYL0g8Yv6N5lJjPaEhNRLLlFkJzPxvPGM32PshzG2TJxz3BRO8dQqx0uMQlyWwojMuqRsJVluLvRgkI9GZhg33EJsq3xdE9uF2jWW9sh7fUk1Am1y-fP-gZNqFFVXo4TGEluRCGXIq_VoUUVI81Zgk5RbEUUqFcuU6Bi989O_1NclTlJ9orXUbwPMNtCcffrfKX5m6xFiwq_OJzbYB19vstXLWETfZEfDjq76-RiuFqevwjEcwXBBZP28xf4NKC2-bYmpyX4Q-64x2gExP6HnAtEdA-bUlMSSA0FT4T3bsT5BaFpGWGhr8t3eIMTOMLjveC5g_jhtZlDUDqZ-XiBYDT4AnXqByPkagDaLoW5qHqbFZMKp2AATXKXA0pCzbXZ99vvq9A-Pwg7cpomcc-mEScqyXzppJOajSaWURxzi89JlDjFT6qWywkplfEEQJE-yqp9p4YxV0lVihy3joH6PAfqS11niK9IL8TYp-pmymHU5h1jH-nyffX-11Rh_HJpgUfvmMYwX1tpnu53Bx_HNx0JmEnG0PnjH01_YmugkMjCkfWUrFX58_419tE_zuzA7bD0Sr4Ph5QuBvO_O
linkProvider	ProQuest
openUrl	ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Next-generation+sequencing+reveals+high+concordance+of+recurrent+somatic+alterations+between+primary+tumor+and+metastases+from+patients+with+non-small-cell+lung+cancer&rft.jtitle=Journal+of+clinical+oncology&rft.au=Vignot%2C+St%C3%A9phane&rft.au=Frampton%2C+Garrett+M&rft.au=Soria%2C+Jean-Charles&rft.au=Yelensky%2C+Roman&rft.date=2013-06-10&rft.eissn=1527-7755&rft.volume=31&rft.issue=17&rft.spage=2167&rft_id=info:doi/10.1200%2FJCO.2012.47.7737&rft_id=info%3Apmid%2F23630207&rft_id=info%3Apmid%2F23630207&rft.externalDocID=23630207
thumbnail_l	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1527-7755&client=summon
thumbnail_m	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1527-7755&client=summon
thumbnail_s	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1527-7755&client=summon