Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in Brazil
PURPOSETissue inadequacy and operational challenges may limit lung cancer comprehensive biomarker testing. Here, we describe the initial implementation of a tailored tissue molecular journey at Oncoclínicas Precision Medicine Laboratory in Brazil, which includes fast-track (FT) non–next-generation s...
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| Format: | Article |
| Language: | English |
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American Society of Clinical Oncology
2024-11-01
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| Series: | JCO Global Oncology |
| Online Access: | https://ascopubs.org/doi/10.1200/GO-24-00354 |
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| author | Rodrigo Dienstmann Leonard M. da Silva Fernanda Orpinelli Ramos do Rego Amanda Muniz Rodrigues Fernanda Christtanini Koyama Layla Testa Galindo Carolina de Bustamante Fernandes Bruno Batista de Souza Rafael Duarte Paes Tatiane Montella Pedro de Marchi Breno Jeha Araújo Bruno Lemos Ferrari Clarissa Mathias Emilio Pereira Mariano Gustavo Zalis Chesley Leslin Carlos Gil Ferreira |
| author_facet | Rodrigo Dienstmann Leonard M. da Silva Fernanda Orpinelli Ramos do Rego Amanda Muniz Rodrigues Fernanda Christtanini Koyama Layla Testa Galindo Carolina de Bustamante Fernandes Bruno Batista de Souza Rafael Duarte Paes Tatiane Montella Pedro de Marchi Breno Jeha Araújo Bruno Lemos Ferrari Clarissa Mathias Emilio Pereira Mariano Gustavo Zalis Chesley Leslin Carlos Gil Ferreira |
| author_sort | Rodrigo Dienstmann |
| collection | DOAJ |
| description | PURPOSETissue inadequacy and operational challenges may limit lung cancer comprehensive biomarker testing. Here, we describe the initial implementation of a tailored tissue molecular journey at Oncoclínicas Precision Medicine Laboratory in Brazil, which includes fast-track (FT) non–next-generation sequencing (NGS) assays combined with a broad NGS panel.METHODSFrom 2021 to 2023, all nonsquamous lung cancer samples eligible for the patient support program “Lung Mapping Consortium” at Oncoclínicas & Co were evaluated using the FT panel (immunohistochemistry for PD-L1 and anaplastic lymphoma kinase [ALK], polymerase chain reaction for EGFR and BRAF, and fluorescence in situ hybridization for ROS1) plus a broad DNA and RNA sequencing panel of 180 genes (custom ARCHER panel).RESULTSFrom 1,272 samples received by the laboratory, 3% had no tissue for any molecular testing, 20% was not eligible for broad NGS panel as per pathologist assessment (tumor purity and quantity), additional 12% did not reach presequencing analytical thresholds (nucleic acid quantity and/or quality), and 3% had postsequencing failure. Most frequent alterations were KRAS mutations (28.4%, KRASG12C 9.7%), EGFR mutations (23.6%, exon20 insertions 2.9%), ALK fusions (6.4%), MET exon 14 skipping (4.4%), ERBB2 mutations (3.4%), ROS1 fusions (3.1%), and BRAFV600E (1.9%). In 35% of the samples, FT non-NGS tests were the only molecular diagnostics: EGFR mutations (14%), ALK fusions (4.4%), ROS1 fusions (1.8%), and BRAFV600E (0.7%). Overall, high PD-L1 expression (≥50%) was found in 12.3%.CONCLUSIONThis study provides data on the molecular epidemiology of lung adenocarcinoma in Brazil, confirming high prevalence of EGFR mutations, ALK fusions, and MET exon 14 skipping alteration. Biomarker detection is largely affected by biospecimen collection and processing, with one third of the patients eligible for non-NGS testing only, which presents reduced coverage and sensitivity for actionable drivers. |
| format | Article |
| id | doaj-art-7dd64304a00546408a1f863f15e59e95 |
| institution | OA Journals |
| issn | 2687-8941 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | American Society of Clinical Oncology |
| record_format | Article |
| series | JCO Global Oncology |
| spelling | doaj-art-7dd64304a00546408a1f863f15e59e952025-08-20T02:32:46ZengAmerican Society of Clinical OncologyJCO Global Oncology2687-89412024-11-011010.1200/GO-24-00354Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in BrazilRodrigo Dienstmann0Leonard M. da Silva1Fernanda Orpinelli Ramos do Rego2Amanda Muniz Rodrigues3Fernanda Christtanini Koyama4Layla Testa Galindo5Carolina de Bustamante Fernandes6Bruno Batista de Souza7Rafael Duarte Paes8Tatiane Montella9Pedro de Marchi10Breno Jeha Araújo11Bruno Lemos Ferrari12Clarissa Mathias13Emilio Pereira14Mariano Gustavo Zalis15Chesley Leslin16Carlos Gil Ferreira17Oncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilBoston Lighthouse Innovations, Boston, MAOncoclínicas & CO—Medica Scientia Innovation Research (MedSir), São Paulo, BrazilPURPOSETissue inadequacy and operational challenges may limit lung cancer comprehensive biomarker testing. Here, we describe the initial implementation of a tailored tissue molecular journey at Oncoclínicas Precision Medicine Laboratory in Brazil, which includes fast-track (FT) non–next-generation sequencing (NGS) assays combined with a broad NGS panel.METHODSFrom 2021 to 2023, all nonsquamous lung cancer samples eligible for the patient support program “Lung Mapping Consortium” at Oncoclínicas & Co were evaluated using the FT panel (immunohistochemistry for PD-L1 and anaplastic lymphoma kinase [ALK], polymerase chain reaction for EGFR and BRAF, and fluorescence in situ hybridization for ROS1) plus a broad DNA and RNA sequencing panel of 180 genes (custom ARCHER panel).RESULTSFrom 1,272 samples received by the laboratory, 3% had no tissue for any molecular testing, 20% was not eligible for broad NGS panel as per pathologist assessment (tumor purity and quantity), additional 12% did not reach presequencing analytical thresholds (nucleic acid quantity and/or quality), and 3% had postsequencing failure. Most frequent alterations were KRAS mutations (28.4%, KRASG12C 9.7%), EGFR mutations (23.6%, exon20 insertions 2.9%), ALK fusions (6.4%), MET exon 14 skipping (4.4%), ERBB2 mutations (3.4%), ROS1 fusions (3.1%), and BRAFV600E (1.9%). In 35% of the samples, FT non-NGS tests were the only molecular diagnostics: EGFR mutations (14%), ALK fusions (4.4%), ROS1 fusions (1.8%), and BRAFV600E (0.7%). Overall, high PD-L1 expression (≥50%) was found in 12.3%.CONCLUSIONThis study provides data on the molecular epidemiology of lung adenocarcinoma in Brazil, confirming high prevalence of EGFR mutations, ALK fusions, and MET exon 14 skipping alteration. Biomarker detection is largely affected by biospecimen collection and processing, with one third of the patients eligible for non-NGS testing only, which presents reduced coverage and sensitivity for actionable drivers.https://ascopubs.org/doi/10.1200/GO-24-00354 |
| spellingShingle | Rodrigo Dienstmann Leonard M. da Silva Fernanda Orpinelli Ramos do Rego Amanda Muniz Rodrigues Fernanda Christtanini Koyama Layla Testa Galindo Carolina de Bustamante Fernandes Bruno Batista de Souza Rafael Duarte Paes Tatiane Montella Pedro de Marchi Breno Jeha Araújo Bruno Lemos Ferrari Clarissa Mathias Emilio Pereira Mariano Gustavo Zalis Chesley Leslin Carlos Gil Ferreira Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in Brazil JCO Global Oncology |
| title | Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in Brazil |
| title_full | Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in Brazil |
| title_fullStr | Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in Brazil |
| title_full_unstemmed | Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in Brazil |
| title_short | Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in Brazil |
| title_sort | real world study on implementation of genomic tests for advanced lung adenocarcinoma in brazil |
| url | https://ascopubs.org/doi/10.1200/GO-24-00354 |
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