An Italian Multicenter Perspective Harmonization Trial for the Assessment of MET Exon 14 Skipping Mutations in Standard Reference Samples

被引:5
作者
Bironzo, Paolo [1 ]
Pepe, Francesco [2 ]
Russo, Gianluca [2 ]
Pisapia, Pasquale [2 ]
Gragnano, Gianluca [2 ]
Aquino, Gabriella [3 ]
Bessi, Silvia [4 ]
Buglioni, Simonetta [5 ]
Bartoccini, Federico [5 ]
Ferrero, Giuseppina [6 ]
Bresciani, Michela Anna [6 ]
di Celle, Paola Francia [7 ]
Sibona, Francesca [7 ]
Giusti, Andrea [8 ]
Movilia, Alessandra [9 ]
Farioli, Renata Mariella [9 ]
Santoro, Alessandra [10 ]
Salemi, Domenico [10 ]
Scarpino, Stefania [11 ]
Galafate, Dino [11 ]
Tommasi, Stefania [12 ]
Lacalamita, Rosanna [12 ]
Seminati, Davide [13 ]
Sajjadi, Elham [14 ]
Novello, Silvia [1 ]
Pagni, Fabio [13 ]
Troncone, Giancarlo [2 ]
Malapelle, Umberto [2 ]
机构
[1] Univ Turin, S Luigi Gonzaga Hosp, Dept Oncol, I-10043 Orbassano, Italy
[2] Univ Federico II Naples, Dept Publ Hlth, I-80131 Naples, Italy
[3] AORN Colli Monaldi, Dept Pulm Oncol, I-80131 Naples, Italy
[4] S Stefano Hosp, Azienda USL Toscana Ctr, Dept Struct Oncol Mol Pathol, Oncol Dept, I-59100 Prato, Italy
[5] IRCCS Regina Elena Natl Canc Inst, Pathol Unit, I-00144 Rome, Italy
[6] ASST Cremona, Dept Pathol, I-26100 Cremona, Italy
[7] AOU Citta Salute & Sci Torino Presidio Ospedaliero, Mol Pathol, I-10126 Turin, Italy
[8] Ctr Polispecialist Achille Sicari, Pathol Unit, ASL Toscana Nord Ovest, I-54033 Carrara, Italy
[9] Osped Legnano, ASST Ovest Milanese, Dept Pathol, I-20025 Legnano, Italy
[10] Ospedali Riuniti Villa Sofia Cervello, Div Hematol & Bone Marrow Transplantat, I-90146 Palermo, Italy
[11] Univ Roma La Sapienza, St Andrea Univ Hosp, Dept Clin & Mol Med, Pathol Unit, I-00189 Rome, Italy
[12] IRCCS Ist Tumori Giovanni Paolo II, Mol Genet Lab, I-70124 Bari, Italy
[13] Univ Mila No Bicocca, Dept Surg & Translat Med, Sect Pathol, I-20126 Milan, Italy
[14] Univ Milan, Dept Oncol & Hematooncol, I-20136 Milan, Italy
关键词
MET; NSCLC; molecular test; WORLDWIDE RING TRIAL; CELL LUNG-CANCER; ADENOCARCINOMAS; REPRODUCIBILITY; CONSISTENCY; CARCINOMAS; INHIBITORS;
D O I
10.3390/diagnostics13040629
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Lung cancer remains the leading cause of cancer deaths worldwide. International societies have promoted the molecular analysis of MET proto-oncogene, receptor tyrosine kinase (MET) exon 14 skipping for the clinical stratification of non-small cell lung cancer (NSCLC) patients. Different technical approaches are available to detect MET exon 14 skipping in routine practice. Here, the technical performance and reproducibility of testing strategies for MET exon 14 skipping carried out in various centers were evaluated. In this retrospective study, each institution received a set (n = 10) of a customized artificial formalin-fixed paraffin-embedded (FFPE) cell line (Custom METex14 skipping FFPE block) that harbored the MET exon 14 skipping mutation (Seracare Life Sciences, Milford, MA, USA), which was previously validated by the Predictive Molecular Pathology Laboratory at the University of Naples Federico II. Each participating institution managed the reference slides according to their internal routine workflow. MET exon 14 skipping was successfully detected by all participating institutions. Molecular analysis highlighted a median Cq cut off of 29.3 (ranging from 27.1 to 30.7) and 2514 (ranging from 160 to 7526) read counts for real-time polymerase chain reaction (RT-PCR) and NGS-based analyses, respectively. Artificial reference slides were a valid tool to harmonize technical workflows in the evaluation of MET exon 14 skipping molecular alterations in routine practice.
引用
收藏
页数:9
相关论文
共 31 条
[1]   MET Exon 14 Mutations in Non-Small-Cell Lung Cancer Are Associated With Advanced Age and Stage-Dependent MET Genomic Amplification and c-Met Overexpression [J].
Awad, Mark M. ;
Oxnard, Geoffrey R. ;
Jackman, David M. ;
Savukoski, Daniel O. ;
Hall, Dimity ;
Shivdasani, Priyanka ;
Heng, Jennifer C. ;
Dahlberg, Suzanne E. ;
Anne, Pasi A. J. ;
Verma, Suman ;
Christensen, James ;
Hammerman, Peter S. ;
Sholl, Lynette M. .
JOURNAL OF CLINICAL ONCOLOGY, 2016, 34 (07) :721-+
[2]   High Yield of RNA Sequencing for Targetable Kinase Fusions in Lung Adenocarcinomas with No Mitogenic Driver Alteration Detected by DNA Sequencing and Low Tumor Mutation Burden [J].
Benayed, Ryma ;
Offin, Michael ;
Mullaney, Kerry ;
Sukhadia, Purvil ;
Rios, Kelly ;
Desmeules, Patrice ;
Ptashkin, Ryan ;
Won, Helen ;
Chang, Jason ;
Halpenny, Darragh ;
Schram, Alison M. ;
Rudin, Charles M. ;
Hyman, David M. ;
Arcila, Maria E. ;
Berger, Michael F. ;
Zehir, Ahmet ;
Kris, Mark G. ;
Drilon, Alexander ;
Ladanyi, Marc .
CLINICAL CANCER RESEARCH, 2019, 25 (15) :4712-4722
[3]  
Cancer Genome Atlas Research Network, 2018, Nature, V559, pE12, DOI [10.1038/nature13385, 10.1038/s41586-018-0228-6]
[4]   Exon 14 Deleted MET Receptor as a New Biomarker and Target in Cancers [J].
Cortot, Alexis B. ;
Kherrouche, Zoulika ;
Descarpentries, Clotilde ;
Wislez, Marie ;
Baldacci, Simon ;
Furlan, Alessandro ;
Tulasne, David .
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2017, 109 (05)
[5]   DNA-Based versus RNA-Based Detection of MET Exon 14 Skipping Events in Lung Cancer [J].
Davies, Kurtis D. ;
Lomboy, Aprille ;
Lawrence, Carolyn A. ;
Yourshaw, Michael ;
Bocsi, Gregary T. ;
Camidge, D. Ross ;
Aisner, Dara L. .
JOURNAL OF THORACIC ONCOLOGY, 2019, 14 (04) :737-741
[6]   Optimization of Routine Testing for MET Exon 14 Splice Site Mutations in NSCLC Patients [J].
Descarpentries, Clotilde ;
Lepretre, Frederic ;
Escande, Fabienne ;
Kherrouche, Zoulika ;
Figeac, Martin ;
Sebda, Sheherazade ;
Baldacci, Simon ;
Gregoire, Valerie ;
Jamme, Philippe ;
Copin, Marie-Christine ;
Tulasne, David ;
Cortot, Alexis B. .
JOURNAL OF THORACIC ONCOLOGY, 2018, 13 (12) :1873-1883
[7]   Activation of MET via Diverse Exon 14 Splicing Alterations Occurs in Multiple Tumor Types and Confers Clinical Sensitivity to MET Inhibitors [J].
Frampton, Garrett M. ;
Ali, Siraj M. ;
Rosenzweig, Mark ;
Chmielecki, Juliann ;
Lu, Xinyuan ;
Bauer, Todd M. ;
Akimov, Mikhail ;
Bufill, Jose A. ;
Lee, Carrie ;
Jentz, David ;
Hoover, Rick ;
Ou, Sai-Hong Ignatius ;
Salgia, Ravi ;
Brennan, Tim ;
Chalmers, Zachary R. ;
Jaeger, Savina ;
Huang, Alan ;
Elvin, Julia A. ;
Erlich, Rachel ;
Fichtenholtz, Alex ;
Gowen, Kyle A. ;
Greenbowe, Joel ;
Johnson, Adrienne ;
Khaira, Depinder ;
McMahon, Caitlin ;
Sanford, Eric M. ;
Roels, Steven ;
White, Jared ;
Greshock, Joel ;
Schlegel, Robert ;
Lipson, Doron ;
Yelensky, Roman ;
Morosini, Deborah ;
Ross, Jeffrey S. ;
Collisson, Eric ;
Peters, Malte ;
Stephens, Philip J. ;
Miller, Vincent A. .
CANCER DISCOVERY, 2015, 5 (08) :850-859
[8]   Lung Cancer with MET exon 14 Skipping Mutation: Genetic Feature, Current Treatments, and Future Challenges [J].
Fujino, Toshio ;
Suda, Kenichi ;
Mitsudomi, Tetsuya .
LUNG CANCER-TARGETS AND THERAPY, 2021, 12 :35-50
[9]   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) [J].
Ilie, Marius ;
Hofman, Veronique ;
Bontoux, Christophe ;
Heeke, Simon ;
Lespinet-Fabre, Virginie ;
Bordone, Olivier ;
Lassalle, Sandra ;
Lalvee, Salome ;
Tanga, Virginie ;
Allegra, Maryline ;
Salah, Myriam ;
Bohly, Doriane ;
Benzaquen, Jonathan ;
Marquette, Charles-Hugo ;
Long-Mira, Elodie ;
Hofman, Paul .
CANCERS, 2022, 14 (09)
[10]   Molecular Diagnostic Assays and Clinicopathologic Implications of MET Exon 14 Skipping Mutation in Non-small-cell Lung Cancer [J].
Kim, Eun Kyung ;
Kim, Kyung A. ;
Lee, Chang Young ;
Kim, Sangwoo ;
Chang, Sunhee ;
Cho, Byoung Chul ;
Shim, Hyo Sup .
CLINICAL LUNG CANCER, 2019, 20 (01) :E123-E132