Validation of a DNA-Based Next-Generation Sequencing Test for Molecular Diagnostic Variant and Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tissue Specimens and Liquid Biopsy Plasma/Cell-Free DNA Samples

Bosse T. Davidson B. Euscher E.D. Liu C.R. Lortet-Tieulent J. Rasollini M.R. Singh N.

Tumours of the uterine corpus—endometrioid carcinoma.

in: WHO Classification of Tumours—Female Genital Tumours. ed 5. volume 4. IARC Publications, Edited by WHO Classification of Tumours Editorial Board. Lyon, France2020: 252-255Lindeman N.I. Cagle P.T. Aisner D.L. Arcila M.E. Beasley M.B. Bernicker E.H. Colasacco C. Dacic S. Hirsch F.R. Kerr K. Kwiatkowski D.J. Ladanyi M. Nowak J.A. Sholl L. Temple-Smolkin R. Solomon B. Souter L.H. Thunnissen E. Tsao M.S. Ventura C.B. Wynes M.W. Yatabe Y.

Updated molecular testing guideline for the selection of lung cancer patients for treatment with targeted tyrosine kinase inhibitors: guideline from the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.

J Mol Diagn. 2018; 20: 129-159Sepulveda A.R. Hamilton S.R. Allegra C.J. Grody W. Cushman-Vokoun A.M. Funkhouser W.K. Kopetz S.E. Lieu C. Lindor N.M. Minsky B.D. Monzon F.A. Sargent D.J. Singh V.M. Willis J. Clark J. Colasacco C. Rumble R.B. Temple-Smolkin R. Ventura C.B. Nowak J.A.

Molecular biomarkers for the evaluation of colorectal cancer: guideline from the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.

J Mol Diagn. 2017; 19: 187-225Chalmers Z.R. Connelly C.F. Fabrizio D. Gay L. Ali S.M. Ennis R. Schrock A. Campbell B. Shlien A. Chmielecki J. Huang F. He Y. Sun J. Tabori U. Kennedy M. Lieber D.S. Roels S. White J. Otto G.A. Ross J.S. Garraway L. Miller V.A. Stephens P.J. Frampton G.M.

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Med. 2017; 9: 34Palmeri M. Mehnert J. Silk A.W. Jabbour S.K. Ganesan S. Popli P. Riedlinger G. Stephenson R. de Meritens A.B. Leiser A. Mayer T. Chan N. Spencer K. Girda E. Malhotra J. Chan T. Subbiah V. Groisberg R.

Real-world application of tumor mutational burden-high (TMB-high) and microsatellite instability (MSI) confirms their utility as immunotherapy biomarkers.

ESMO Open. 2021; 7: 100336Mosele F. Remon J. Mateo J. Westphalen C.B. Barlesi F. Lolkema M.P. Normanno N. Scarpa A. Robson M. Meric-Bernstam F. Wagle N. Stenzinger A. Bonastre J. Bayle A. Michiels S. Bièche I. Rouleau E. Jezdic S. Douillard J.Y. Reis-Filho J.S. Dienstmann R. André F.

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: 1491-1505Jennings L.J. Arcila M.E. Corless C. Kamel-Reid S. Lubin I.M. Pfeifer J. Temple-Smolkin R.L. Voelkerding K.V. Nikiforova M.N.

Guidelines for validation of next-generation sequencing-based oncology panels: a joint consensus recommendation of the Association for Molecular Pathology and College of American Pathologists.

J Mol Diagn. 2017; 19: 341-365Hirsch B. Endris V. Lassmann S. Weichert W. Pfarr N. Schirmacher P. Kovaleva V. Werner M. Bonzheim I. Fend F. Sperveslage J. Kaulich K. Zacher A. Reifenberger G. Kohrer K. Stepanow S. Lerke S. Mayr T. Aust D.E. Baretton G. Weidner S. Jung A. Kirchner T. Hansmann M.L. Burbat L. von der Wall E. Dietel M. Hummel M.

Multicenter validation of cancer gene panel-based next-generation sequencing for translational research and molecular diagnostics.

Virchows Arch. 2018; 472: 557-565Siravegna G. Marsoni S. Siena S. Bardelli A.

Integrating liquid biopsies into the management of cancer.

Nat Rev Clin Oncol. 2017; 14: 531-548Stewart C.M. Kothari P.D. Mouliere F. Mair R. Somnay S. Benayed R. Zehir A. Weigelt B. Dawson S.J. Arcila M.E. Berger M.F. Tsui D.W.

The value of cell-free DNA for molecular pathology.

J Pathol. 2018; 244: 616-627Esposito Abate R. Frezzetti D. Maiello M.R. Gallo M. Camerlingo R. De Luca A. De Cecio R. Morabito A. Normanno N.

Next generation sequencing-based profiling of cell free DNA in patients with advanced non-small cell lung cancer: advantages and pitfalls.

Cancers (Basel). 2020; 12: 3804Fassunke J. Ihle M.A. Lenze D. Lehmann A. Hummel M. Vollbrecht C. Penzel R. Volckmar A.L. Stenzinger A. Endris V. Jung A. Lehmann U. Zeugner S. Baretton G. Kreipe H. Schirmacher P. Kirchner T. Dietel M. Büttner R. Merkelbach-Bruse S.

EGFR T790M mutation testing of non-small cell lung cancer tissue and blood samples artificially spiked with circulating cell-free tumor DNA: results of a round robin trial.

Virchows Arch. 2017; 471: 509-520Rolfo C. Mack P. Scagliotti G.V. Aggarwal C. Arcila M.E. Barlesi F. Bivona T. Diehn M. Dive C. Dziadziuszko R. Leighl N. Malapelle U. Mok T. Peled N. Raez L.E. Sequist L. Sholl L. Swanton C. Abbosh C. Tan D. Wakelee H. Wistuba I. Bunn R. Freeman-Daily J. Wynes M. Belani C. Mitsudomi T. Gandara D.

Liquid biopsy for advanced NSCLC: a consensus statement from the International Association for the Study of Lung Cancer.

J Thorac Oncol. 2021; 16: 1647-1662Lee J.K. Hazar-Rethinam M. Decker B. Gjoerup O. Madison R.W. Lieber D.S. Chung J.H. Schrock A.B. Creeden J. Venstrom J. Alexander B. Oxnard G.R.

The pan-tumor landscape of targetable kinase fusions in circulating tumor DNA.

Clin Cancer Res. 2022; 28: 728-737Heeke S. Benzaquen J. Vallee A. Allegra M. Mazieres J. Fayada J. Rajamani J. Lee M. Ordinario E. Tiotiu A. Cadranel J. Poudenx M. Moro-Sibilot D. Barlesi F. Gervais R. Thariat J. Tanga V. Boutros J. Ilié M. Hofman V. Marquette C.H. Denis M.G. Hofman P.

Detection of ALK fusion transcripts in plasma of non-small cell lung cancer patients using a novel RT-PCR based assay.

Ann Transl Med. 2021; 9: 922Hasegawa N. Kohsaka S. Kurokawa K. Shinno Y. Takeda Nakamura I. Ueno T. Kojima S. Kawazu M. Suehara Y. Ishijima M. Goto Y. Kojima Y. Yonemori K. Hayashi T. Saito T. Shukuya T. Takahashi F. Takahashi K. Mano H.

Highly sensitive fusion detection using plasma cell-free RNA in non-small-cell lung cancers.

Cancer Sci. 2021; 112: 4393-4403Bodlak A. Chang K. Channel J. Treece A.L. Donaldson N. Cost C.R. Garrington T.P. Greffe B. Luna-Fineman S. Sopfe J. Loeb D.M. Hayashi M.

Circulating plasma tumor DNA is superior to plasma tumor RNA detection in Ewing sarcoma patients: ptDNA and ptRNA in Ewing sarcoma.

J Mol Diagn. 2021; 23: 872-881Newman A.M. Bratman S.V. To J. Wynne J.F. Eclov N.C. Modlin L.A. Liu C.L. Neal J.W. Wakelee H.A. Merritt R.E. Shrager J.B. Loo Jr., B.W. Alizadeh A.A. Diehn M.

An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage.

Nat Med. 2014; 20: 548-554Newman A.M. Lovejoy A.F. Klass D.M. Kurtz D.M. Chabon J.J. Scherer F. Stehr H. Liu C.L. Bratman S.V. Say C. Zhou L. Carter J.N. West R.B. Sledge G.W. Shrager J.B. Loo Jr., B.W. Neal J.W. Wakelee H.A. Diehn M. Alizadeh A.A.

Integrated digital error suppression for improved detection of circulating tumor DNA.

Nat Biotechnol. 2016; 34: 547-555Lam S.N. Zhou Y.C. Chan Y.M. Foo C.M. Lee P.Y. Mok W.Y. Wong W.S. Fung Y.Y. Wong K.Y. Huang J.Y. Chow C.K.

Comparison of target enrichment platforms for circulating tumor DNA detection.

Sci Rep. 2020; 10: 4124Verma S. Moore M.W. Ringler R. Ghosal A. Horvath K. Naef T. Anvari S. Cotter P.D. Gunn S.

Analytical performance evaluation of a commercial next generation sequencing liquid biopsy platform using plasma ctDNA, reference standards, and synthetic serial dilution samples derived from normal plasma.

BMC Cancer. 2020; 20: 945Zulato E. Tosello V. Nardo G. Bonanno L. Del Bianco P. Indraccolo S.

Implementation of next generation sequencing-based liquid biopsy for clinical molecular diagnostics in non-small cell lung cancer (NSCLC) patients.

Diagnostics (Basel). 2021; 11: 1468Alidousty C. Brandes D. Heydt C. Wagener S. Wittersheim M. Schäfer S.C. Holz B. Merkelbach-Bruse S. Büttner R. Fassunke J. Schultheis A.M.

Comparison of blood collection tubes from three different manufacturers for the collection of cell-free DNA for liquid biopsy mutation testing.

J Mol Diagn. 2017; 19: 801-804den Dunnen J.T. Dalgleish R. Maglott D.R. Hart R.K. Greenblatt M.S. McGowan-Jordan J. Roux A.F. Smith T. Antonarakis S.E. Taschner P.E.

HGVS recommendations for the description of sequence variants: 2016 update.

Hum Mutat. 2016; 37: 564-569Bartels S. Persing S. Hasemeier B. Schipper E. Kreipe H. Lehmann U.

Molecular analysis of circulating cell-free DNA from lung cancer patients in routine laboratory practice: a cross-platform comparison of three different molecular methods for mutation detection.

J Mol Diagn. 2017; 19: 722-732

Next generation sequencing for gene fusion analysis in lung cancer: a literature review.

Diagnostics (Basel). 2020; 10: 521-537Supplee J.G. Milan M.S.D. Lim L.P. Potts K.T. Sholl L.M. Oxnard G.R. Paweletz C.P.

Sensitivity of next-generation sequencing assays detecting oncogenic fusions in plasma cell-free DNA.

Lung Cancer. 2019; 134: 96-99Mondaca S. Lebow E.S. Namakydoust A. Razavi P. Reis-Filho J.S. Shen R. Offin M. Tu H.Y. Murciano-Goroff Y. Xu C. Makhnin A. Martinez A. Pavlakis N. Clarke S. Itchins M. Lee A. Rimner A. Gomez D. Rocco G. Chaft J.E. Riely G.J. Rudin C.M. Jones D.R. Li M. Shaffer T. Hosseini S.A. Bertucci C. Lim L.P. Drilon A. Berger M.F. Benayed R. Arcila M.E. Isbell J.M. Li B.T.

Clinical utility of next-generation sequencing-based ctDNA testing for common and novel ALK fusions.

Lung Cancer. 2021; 159: 66-73Solomon J.P. Benayed R. Hechtman J.F. Ladanyi M.

Identifying patients with NTRK fusion cancer.

Ann Oncol. 2019; 30: viii16-viii22Davies K.D. Le A.T. Sheren J. Nijmeh H. Gowan K. Jones K.L. Varella-Garcia M. Aisner D.L. Doebele R.C.

Comparison of molecular testing modalities for detection of ROS1 rearrangements in a cohort of positive patient samples.

J Thorac Oncol. 2018; 13: 1474-1482

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