دورية أكاديمية
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Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer.

التفاصيل البيبلوغرافية
العنوان: Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer.
المؤلفون: Malapelle U; Department of Public Health, University of Naples Federico II, Naples, Italy., Leighl N; Department of Medical Oncology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, ON, Canada., Addeo A; Oncology Unit, Geneva University Hospital, Geneva, Switzerland., Hershkovitz D; Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel., Hochmair MJ; Department of Respiratory & Critical Care Medicine, Karl Landsteiner Institute of Lung Research & Pulmonary Oncology, Klinik Floridsdorf, Vienna, Austria., Khorshid O; National Cancer Institute, Cairo University, Cairo, Egypt., Länger F; Institute of Pathology, Hannover Medical School, Hannover, Germany., de Marinis F; Division of Thoracic Oncology, European Institute of Oncology, IRCCS, Milan, Italy., Peled N; Helmesely Cancer Center, Shaare Zedek Medical Center, Jerusalem, Israel., Sheffield BS; Division of Advanced Diagnostics, William Osler Health System, Brampton, ON, Canada., Smit EF; Department of Pulmonary Diseases, Leiden University Medical Centre, Leiden, The Netherlands., Viteri S; UOMI Cancer Center, Clínica Mi Tres Torres, Barcelona, Spain., Wolf J; Lung Cancer Group Cologne, Center for Integrated Oncology, University Hospital of Cologne, Cologne, Germany., Venturini F; Merck Serono S.p.A., Rome, Italy., O'Hara RM Jr; EMD Serono, Inc., Rockland, MA, USA., Rolfo C; Center for Thoracic Oncology, Tisch Cancer Institute, Mount Sinai Medical System & Icahn School of Medicine, New York, NY, USA. christian.rolfo@mssm.edu.
المصدر: British journal of cancer [Br J Cancer] 2024 Jul; Vol. 131 (2), pp. 212-219. Date of Electronic Publication: 2024 May 15.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group on behalf of Cancer Research UK Country of Publication: England NLM ID: 0370635 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1827 (Electronic) Linking ISSN: 00070920 NLM ISO Abbreviation: Br J Cancer Subsets: MEDLINE
أسماء مطبوعة: Publication: 2002- : London : Nature Publishing Group on behalf of Cancer Research UK
Original Publication: London, Lewis.
مواضيع طبية MeSH: Carcinoma, Non-Small-Cell Lung*/genetics , High-Throughput Nucleotide Sequencing*/methods , High-Throughput Nucleotide Sequencing*/standards , Lung Neoplasms*/genetics, Humans ; Circulating Tumor DNA/genetics ; Circulating Tumor DNA/blood
مستخلص: Non-small cell lung cancer is a heterogeneous disease and molecular characterisation plays an important role in its clinical management. Next-generation sequencing-based panel testing enables many molecular alterations to be interrogated simultaneously, allowing for comprehensive identification of actionable oncogenic drivers (and co-mutations) and appropriate matching of patients with targeted therapies. Despite consensus in international guidelines on the importance of broad molecular profiling, adoption of next-generation sequencing varies globally. One of the barriers to its successful implementation is a lack of accepted standards and guidelines specifically for the reporting and clinical annotation of next-generation sequencing results. Based on roundtable discussions between pathologists and oncologists, we provide best practice recommendations for the reporting of next-generation sequencing results in non-small cell lung cancer to facilitate its use and enable easy interpretation for physicians. These are intended to complement existing guidelines related to the use of next-generation sequencing (solid and liquid). Here, we discuss next-generation sequencing workflows, the structure of next-generation sequencing reports, and our recommendations for best practice thereof. The aim of these recommendations and considerations is ultimately to ensure that reports are fully interpretable, and that the most appropriate treatment options are selected based on robust molecular profiles in well-defined reports.
(© 2024. The Author(s).)
References: Yang S-R, Schultheis AM, Yu H, Mandelker D, Ladanyi M, Büttner R. Precision medicine in non-small cell lung cancer: Current applications and future directions. Semin Cancer Biol. 2022;84:184–98. (PMID: 3273081410.1016/j.semcancer.2020.07.009)
Thai AA, Solomon BJ, Sequist LV, Gainor JF, Heist RS. Lung cancer. Lancet. 2021;398:535–54. (PMID: 3427329410.1016/S0140-6736(21)00312-3)
Hanna NH, Robinson AG, Temin S, Baker S, Brahmer JR, Ellis PM, et al. Therapy for stage IV non–small-cell lung cancer with driver alterations: ASCO and OH (CCO) joint guideline update. J Clin Oncol. 2021;39:1040–91. [Erratum: J Clin Oncol 2021;39(22):2520]. (PMID: 3359184410.1200/JCO.20.03570)
Singh N, Temin S, Baker S, Blanchard E, Brahmer JR, Celano P, et al. Therapy for Stage IV non-small-cell lung cancer without driver alterations: ASCO Living Guideline. J Clin Oncol. 2022;40:3323–43. (PMID: 3581666810.1200/JCO.22.00825)
Roth M, Michelotti A, De Scordilli M, Bertoli E, De Carlo E, Del Conte A, et al. NSCLC as the paradigm of precision medicine at its finest: the rise of new druggable molecular targets for advanced disease. Int J Mol. 2022;23:6748. (PMID: 10.3390/ijms23126748)
Hendriks LE, Kerr K, Menis J, Mok TS, Nestle U, Passaro A, et al. Oncogene-addicted metastatic non-small-cell lung cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2023;S0923–7534:04785–8.
NCCN Clinical Practice Guidelines in Oncology. Non-small cell lung cancer V3.2024. Accessed March 25, 2024.
Pennell NA, Arcila ME, Gandara DR, West H. Biomarker testing for patients with advanced non–small cell lung cancer: real-world issues and tough choices. American Society of Clinical Oncology Educational Book 2019;531-42.
Kalemkerian GP, Narula N, Kennedy EB, Biermann WA, Donington J, Leighl NB, et al. Molecular testing guideline for the selection of patients with lung cancer for treatment with targeted tyrosine kinase inhibitors: American society of clinical oncology endorsement of the college of American pathologists/ international association for the study of lung cancer/ association for molecular pathology clinical practice guideline update. J Clin Oncol. 2018;36:911–9. (PMID: 2940100410.1200/JCO.2017.76.7293)
Mosele F, Remon J, Mateo J, Westphalen CB, Barlesi F, Lolkema MP, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2020;31:1491–505. (PMID: 3285368110.1016/j.annonc.2020.07.014)
Pennell NA, Mutebi A, Zhou Z-Y, Ricculli ML, Tang W, Wang H, et al. Economic impact of next-generation sequencing versus single-gene testing to detect genomic alterations in metastatic non-small-cell lung cancer using a decision analytic model. JCO Precis Oncol. 2019;3:1–9. (PMID: 3510069510.1200/PO.18.00356)
Rolfo C, Mack P, Scagliotti GV, Aggarwal C, Arcila ME, Barlesi F, et al. Liquid biopsy for advanced NSCLC: A Consensus Statement From the International Association for the Study of Lung Cancer. J Thorac Oncol. 2021;16:1647–62. (PMID: 3424679110.1016/j.jtho.2021.06.017)
Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, et al. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19:4. (PMID: 27993330570719610.1016/j.jmoldx.2016.10.002)
Kerr KM, Bibeau F, Thunnissen E, Botling J, Ryška A, Wolf J, et al. The evolving landscape of biomarker testing for non-small cell lung cancer in Europe. Lung Cancer. 2021;154:161–75. (PMID: 3369009110.1016/j.lungcan.2021.02.026)
Tack V, Dufraing K, Deans ZC, van Krieken HJ, Dequeker EMC. The ins and outs of molecular pathology reporting. Virchows Arch. 2017;471:199–207. (PMID: 2834330610.1007/s00428-017-2108-0)
Dorschner MO, Amendola LM, Shirts BH, Kiedrowski L, Salama J, Gordon AS, et al. Refining the structure and content of clinical genomic reports. Am J Med Genet C Semin Med Genet. 2014;0:85. (PMID: 407759210.1002/ajmg.c.31395)
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet. 2015;24:2–5. (PMID: 26508566479522610.1038/ejhg.2015.226)
Smith K, Martindale J, Wallis Y, Bown N, Leo N, Creswell L, et al. General Genetic Laboratory Reporting Recommendations. 2015. https://www.acgs.uk.com/media/10758/acgs_general_genetic_laboratory_reporting_recommendations_2015.pdf .
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. (PMID: 25741868454475310.1038/gim.2015.30)
Cree IA, Cree IA, Deans Z, Ligtenberg MJL, Groenen P, Van Krieken JH, et al. Guidance for laboratories performing molecular pathology for cancer patients. J Clin Pathol. 2014;67:923–31. (PMID: 2501294810.1136/jclinpath-2014-202404)
Penault-Llorca F, Kerr KM, Garrido P, Thunnissen E, Dequeker E, Normanno N, et al. Expert opinion on NSCLC small specimen biomarker testing — Part 2: Analysis, reporting, and quality assessment. Virchows Arch. 2022;481:351. (PMID: 35857103929726310.1007/s00428-022-03344-1)
de Moor JS, Gray SW, Mitchell SA, Klabunde CN, Freedman AN. Oncologist confidence in genomic testing and implications for using multimarker tumor panel tests in practice. JCO Precis Oncol. 2020;4:620–31. (PMID: 10.1200/PO.19.00338)
Liu F, Wei Y, Zhang H, Jiang J, Zhang P, Chu Q. NTRK fusion in non-small cell lung cancer: diagnosis, therapy, and TRK inhibitor resistance. Front Oncol. 2022;12:864666. (PMID: 35372074896813810.3389/fonc.2022.864666)
Harada G, Santini FC, Wilhelm C, Drilon A. NTRK fusions in lung cancer: From biology to therapy. Lung Cancer. 2021;161:108–13. (PMID: 3456371410.1016/j.lungcan.2021.09.005)
de Jager VD, Timens W, Bayle A, Botling J, Brcic L, Büttner R, et al. Future perspective for the application of predictive biomarker testing in advanced stage non-small cell lung cancer. Lancet Reg Health Eur. 2024;38:100839.
Cainap C, Balacescu O, Cainap SS, Pop LA. Next generation sequencing technology in lung cancer diagnosis. Biology 2021;10:864.
Malapelle U, Fassan M, de Biase D. Special issue: next-generation sequencing in tumor diagnosis and treatment II. Diagnostics 2022;12:2017.
König D, Prince SS, Rothschild SI. Targeted therapy in advanced and metastatic non-small cell lung cancer. An update on treatment of the most important actionable oncogenic driver alterations. Cancers. 2021;13:804. (PMID: 33671873791896110.3390/cancers13040804)
Malapelle U, Pisapia P, Pepe F, Russo G, Buono M, Russo A, et al. The evolving role of liquid biopsy in lung cancer. Lung Cancer. 2022;172:53–64. (PMID: 3599848210.1016/j.lungcan.2022.08.004)
Bonanno L, Dal Maso A, Pavan A, Zulato E, Calvetti L, Pasello G, et al. Liquid biopsy and non-small cell lung cancer: are we looking at the tip of the iceberg? Br J Cancer. 2022;127:383–93. (PMID: 35264788934595510.1038/s41416-022-01777-8)
Lin C, Liu X, Zheng B, Ke R, Tzeng CM. Liquid biopsy, ctDNA diagnosis through NGS. Life 2021;11:890.
Paul H. Next-generation sequencing with liquid biopsies from treatment-naïve non-small cell lung carcinoma patients. Cancers. 2021;13:2049. (PMID: 10.3390/cancers13092049)
Lazzari C, Bulotta A, Cangi MG, Bucci G, Pecciarini L, Bonfiglio S, et al. Next generation sequencing in non-small cell lung cancer: pitfalls and opportunities. Diagnostics. 2020;10:1092.
Mino-Kenudson M. Cons: Can liquid biopsy replace tissue biopsy?—the US experience. Transl Lung Cancer Res. 2016;5:424–7. (PMID: 27655060500908010.21037/tlcr.2016.08.01)
Sebastião MM, Ho RS, de Carvalho JPV, Nussbaum M. Diagnostic accuracy of next generation sequencing panel using circulating tumor DNA in patients with advanced non-small cell lung cancer: A systematic review and meta-analysis. J Health Econ Outcomes Res. 2020;7:158–63. (PMID: 33043062753976110.36469/jheor.2020.17088)
Chan HT, Chin YM, Nakamura Y, Low S-K. Clonal hematopoiesis in liquid biopsy: from biological noise to valuable clinical implications. Cancers. 2020;12:2277. (PMID: 32823942746345510.3390/cancers12082277)
Xie J, Yao W, Chen L, Zhu W, Liu Q, Geng G, et al. Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers. BMC Cancer. 2023;23:294. (PMID: 370040221006394710.1186/s12885-023-10674-z)
Smeltzer MP, Wynes MW, Lantuejoul S, Soo R, Ramalingam SS, Varella-Garcia M, et al. The International Association for the Study of Lung Cancer Global Survey on molecular testing in lung cancer. J Thorac Oncol. 2020;15:1434–48. (PMID: 3244581310.1016/j.jtho.2020.05.002)
De Maglio G, Pasello G, Dono M, Fiorentino M, Follador A, Sciortino M, et al. The storm of NGS in NSCLC diagnostic-therapeutic pathway: How to sun the real clinical practice. Crit Rev Oncol Hematol. 2022;169:103561.
Sadik H, Pritchard D, Keeling D-M, Policht F, Riccelli P, Stone G, et al. Impact of clinical practice gaps on the implementation of personalized medicine in advanced non–small-cell lung cancer. JCO Precis Oncol 2022;e2200246.
Horgan D, Curigliano G, Rieß O, Hofman P, Büttner R, Conte P, et al. Identifying the steps required to effectively implement next-generation sequencing in oncology at a national level in Europe. J Pers Med. 2022;12:72. (PMID: 35055387878035110.3390/jpm12010072)
Dancey JE, Bedard PL, Onetto N, Hudson TJ. Leading edge the genetic basis for cancer treatment decisions. Cell. 2012;148:409–20. (PMID: 2230491210.1016/j.cell.2012.01.014)
Gregg JP, Li T, Yoneda KY. Molecular testing strategies in non-small cell lung cancer: Optimizing the diagnostic journey. Transl Lung Cancer Res. 2019;8:286–301. (PMID: 31367542662686010.21037/tlcr.2019.04.14)
Lubin IM, Aziz N, Babb LJ, Ballinger D, Bisht H, Church DM, et al. Principles and recommendations for standardizing the use of the next-generation sequencing variant file in clinical settings. J Mol Diagn. 2017;19:417–26. (PMID: 28315672541704310.1016/j.jmoldx.2016.12.001)
Shu Y, Wu X, Tong X, Wang X, Chang Z, Mao Y, et al. Circulating tumor DNA mutation profiling by targeted next generation sequencing provides guidance for personalized treatments in multiple cancer types. Sci Rep. 2017;7:583.
Ilié M, Hofman V, Bontoux C, Heeke S, Lespinet-Fabre V, Bordone O, et al. Setting up an ultra-fast next-generation sequencing approach as reflex testing at diagnosis of non-squamous non-small cell lung cancer; experience of a single center (LPCE, Nice, France). Cancers 2022;14:2258.
Malone ER, Oliva M, Sabatini PJB, Stockley TL, Siu LL Molecular profiling for precision cancer therapies. Genome Med. 2020;12:8.
Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, et al. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med. 2020;5:47.
Endrullat C, Glökler J, Franke P, Frohme M. Standardization and quality management in next-generation sequencing. Appl Transl Genom. 2016;10:2–9. (PMID: 276681695025460)
Passaro A, Leighl N, Blackhall F, Popat S, Kerr K, Ahn MJ, et al. ESMO expert consensus statements on the management of EGFR mutant non-small-cell lung cancer. Ann Oncol. 2022;33:466–87. (PMID: 3517645810.1016/j.annonc.2022.02.003)
Deans ZC, Costa JL, Cree I, Dequeker E, Edsjö A, Henderson S, et al. Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL. Virchows Arch. 2017;470:5–20. (PMID: 2767826910.1007/s00428-016-2025-7)
Mateo J, Chakravarty D, Dienstmann R, Jezdic S, Gonzalez-Perez A, Lopez-Bigas N, et al. A framework to rank genomic alterations as targets for cancer precision medicine: The ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). Ann Oncol. 2018;29:1895–902. (PMID: 30137196615876410.1093/annonc/mdy263)
Schmid S, Jochum W, Padberg B, Demmer I, Mertz KD, Joerger M, et al. How to read a next-generation sequencing report – 2014; what oncologists need to know. ESMO Open. 2022;7:100570. (PMID: 36183443958889010.1016/j.esmoop.2022.100570)
Sequence Variant Nomenclature. https://varnomen.hgvs.org/bg-material/simple/ (accessed 16 Dec 2022).
Callenberg KM, Santana-Santos L, Chen L, Ernst WL, De Moura MB, Nikiforov YE, et al. Clinical implementation and validation of automated Human Genome Variation Society (HGVS) nomenclature system for next-generation sequencing-based assays for cancer. J Mol Diagn. 2018;20:628–34. (PMID: 2993625810.1016/j.jmoldx.2018.05.006)
Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, et al. Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22:1142–8. (PMID: 3232199710.1038/s41436-020-0783-8)
Penault-Llorca F, Kerr KM, Garrido P, Thunnissen E, Dequeker E, Normanno N, et al. Expert opinion on NSCLC small specimen biomarker testing - Part 1: Tissue collection and management. Virchows Arch. 2022;481:335–50. (PMID: 35857102948516710.1007/s00428-022-03343-2)
Solomon JP, Benayed R, Hechtman JF, Ladanyi M. Identifying patients with NTRK fusion cancer. Ann Oncol. 2019;30:viii16. (PMID: 32223934685981710.1093/annonc/mdz384)
Husain H, Pavlick DC, Fendler BJ, Madison RW, Decker B, Gjoerup O, et al. Tumor fraction correlates with detection of actionable variants across > 23,000 circulating tumor DNA samples. JCO Precis Oncol. 2022;6:e2200261.
Yaung SJ, Fuhlbrück F, Peterson M, Zou W, Palma JF, Patil NS, et al. Clonal Hematopoiesis in late-stage non-small-cell lung cancer and its impact on targeted panel next-generation sequencing. JCO Precis Oncol. 2020;4:1271–9. (PMID: 3505078710.1200/PO.20.00046)
Hong Y, Kim WJ. DNA methylation markers in lung cancer. Curr Genom. 2021;22:79–87. (PMID: 10.2174/1389202921999201013164110)
Ntzifa A, Londra D, Rampias T, Kotsakis A, Georgoulias V, Lianidou E. DNA methylation analysis in plasma cell-free DNA and paired CTCs of NSCLC patients before and after osimertinib treatment. Cancers. 2021;13:5974. (PMID: 34885084865672210.3390/cancers13235974)
Jiang P, Sinha S, Aldape K, Hannenhalli S, Sahinalp C, Ruppin E. Big data in basic and translational cancer research. Nat Rev Cancer. 2022;22:625–39. (PMID: 36064595944363710.1038/s41568-022-00502-0)
Ladbury C, Amini A, Govindarajan A, Mambetsariev I, Raz DJ, Massarelli E, et al. Integration of artificial intelligence in lung cancer: Rise of the machine. Cell Rep. Med. 2023;4:100933. (PMID: 36738739997528310.1016/j.xcrm.2023.100933)
Couture HD. Deep learning-based prediction of molecular tumor biomarkers from H&E: A practical review. J Pers Med. 2022;12:2022.
Rolfo CD, Madison R, Pasquina LW, Brown DW, Huang Y, Hughes JD, et al. Utility of ctDNA tumor fraction to inform negative liquid biopsy (LBx) results and need for tissue reflex in advanced non-small cell lung cancer (aNSCLC). J Clin Oncol. 2023;41:9076. (PMID: 10.1200/JCO.2023.41.16_suppl.9076)
Perry C, Greenberg O, Haberman S, Herskovitz N, Gazy I, Avinoam A, et al. Image-based deep learning detection of high-grade B-cell lymphomas directly from hematoxylin and eosin images. Cancers. 2023;15:5205. (PMID: 379583791065041410.3390/cancers15215205)
Frisone D, Friedlaender A, Addeo A. The role and impact of minimal residual disease in NSCLC. Curr Oncol Rep. 2021;23:136. (PMID: 34735646856885610.1007/s11912-021-01131-w)
De Leng WWJ, Gadellaa-Van Hooijdonk CG, Barendregt-Smouter FAS, Koudijs MJ, Nijman I, Hinrichs JWJ, et al. Targeted next generation sequencing as a reliable diagnostic assay for the detection of somatic mutations in tumours using minimal DNA amounts from formalin fixed paraffin embedded material. PLoS One. 2016;11:e0149405.
المشرفين على المادة: 0 (Circulating Tumor DNA)
تواريخ الأحداث: Date Created: 20240515 Date Completed: 20240722 Latest Revision: 20240827
رمز التحديث: 20240828
مُعرف محوري في PubMed: PMC11263606
DOI: 10.1038/s41416-024-02709-4
PMID: 38750115
قاعدة البيانات: MEDLINE
الوصف
تدمد:1532-1827
DOI:10.1038/s41416-024-02709-4