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Poster display

3291 - Whole exome sequencing (WES) and RNA sequencing (RNA-seq) in routine clinical practice for colorectal cancer (CRC) and non-small cell lung cancer (NSCLC) patients (pts)


10 Oct 2016


Poster display


Géraldine Perkins


Annals of Oncology (2016) 27 (6): 15-42. 10.1093/annonc/mdw363


G. Perkins1, E. Fabre2, V. Fallet3, H. Blons4, N. Pecuchet2, V. Gounant5, L. Gibault6, E. Michel-Jeljeli7, M. Antoine8, E. Roux9, M. Wislez3, D. Le Corre10, K. Leroy11, R. Lacave12, J. Taieb1, J. Cadranel3, P. Laurent-Puig4

Author affiliations

  • 1 Gi Oncology, Hopital European George Pompidou, 75015 - Paris/FR
  • 2 Medical Oncology, Hopital European George Pompidou, Paris/FR
  • 3 Pneumology, APHP, CancerEst, Tenon University Hospital, 75020 - Paris/FR
  • 4 Department Of Biology, Hopital European George Pompidou, Paris/FR
  • 5 Thoracic Oncology, Hopital Bichat Claude Bernard, Paris/FR
  • 6 Pathology, Hopital Europeen Georges, Paris/FR
  • 7 Pathology And Prb-hegp, Hopital Europeen Georges, Paris/FR
  • 8 Pathology, APHP, CancerEst, Tenon University Hospital, 75020 - Paris/FR
  • 9 Tumorothèque Huep « Tumeurest », APHP, CancerEst, Tenon University Hospital, 75020 - Paris/FR
  • 10 Inserm 1147, Paris Descartes University, Paris/FR
  • 11 Genetic And Molecular Biology, Hôpital Cochin, Paris/FR
  • 12 Tumors Genomics Unit, APHP, CancerEst, Tenon University Hospital, Paris/FR


Abstract 3291


Precision medicine is a promising approach to select effective treatments for cancer pts. Here we report the use of WES and RNA-seq analysis in routine clinical practice, to select targeted therapies (TT) for pretreated metastatic cancer pts.


CRC and NSCLC pts without druggable genetic alterations were selected during a multidisciplinary medical board. Fresh frozen (FF) and/or formalin-fixed paraffin embedded (FFPE) tissue of the primary and/or metastasis tumors were collected. Re-biopsy was performed when possible. Blood was drawn for comparative germline analysis. WES was performed on tumor/germline DNA, and RNA-seq on FF tumor RNA. Pts were systematically referred for genetic counseling and written informed consent was recorded. Results were reviewed during a second medical board, to identify molecular alterations and propose a relevant TT.


Between 09/2014 and 4/2016, 35 pts were selected; 1 pt refused WES analysis. 34 pts (13 CRC, 21 NSCLC) had WES and/or RNA-seq of their tumor; 1 pt refused to be informed of incidental germline mutations. The median age was 49 years (27-74). 8 pts had undergone a tumor re-biopsy. 45 tumor tissues (17 primary/28 metastatic) and 30 germline samples were tested. Germline mutations (BRCA2, STK11, MEN1, COL3A1, MYBPC3) were found in 5 pts. An average of 1.3 tumors (1-3) by pt was tested. WES was done on 37 FF and 4 FFPE tissues; 1 analysis failed because of low tumor cellularity. RNA-seq was done on 34 FF tissues. The median analysis turnaround was 21.5 days (8-92). Potential driver alterations were found in 27 pts, most frequently in HER/RAS/MAPK (n = 14), PTEN/PI3K/AKT (n = 6), STK11 (n = 4) pathways. Gene alterations were identified in chromatin organization (ARID1A/ARID2/EZH2, n = 8), cell cycle checkpoint signaling (ATR/ATRX/ATM, n = 4), and DNA repair (BRCA1/BRCA2, n = 4) pathways. Therapy could be personalized in 13 pts, of whom 7 were included in a clinical trial.


These results are encouraging on the feasibility of WES and RNA-seq analysis in routine clinical basis, in order to select dedicated TT in pretreated pts.

Clinical trial identification

Legal entity responsible for the study

Pierre Laurent-Puig


Canceropole Ile de France


All authors have declared no conflicts of interest.

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