Added value of whole‐exome and RNA sequencing in advanced and refractory cancer patients with no molecular‐based treatment recommendation based on a 90‐gene panel.
| Title: | Added value of whole‐exome and RNA sequencing in advanced and refractory cancer patients with no molecular‐based treatment recommendation based on a 90‐gene panel. |
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| Authors: | Dufresne, Armelle, Attignon, Valéry, Ferrari, Anthony, Tonon, Laurie, Boyault, Sandrine, Tabone‐Eglinger, Séverine, Cassier, Philippe, Trédan, Olivier, Corradini, Nadège, Vinceneux, Armelle, Swalduz, Aurélie, Viari, Alain, Chabaud, Sylvie, Pérol, David, Blay, Jean Yves, Saintigny, Pierre |
| Source: | Cancer Medicine; Apr2024, Vol. 13 Issue 7, p1-6, 6p |
| Subject Terms: | CANCER patients, RNA sequencing, COMPARATIVE genomic hybridization |
| Abstract: | Introduction: The objective was to determine the added value of comprehensive molecular profile by whole‐exome and RNA sequencing (WES/RNA‐Seq) in advanced and refractory cancer patients who had no molecular‐based treatment recommendation (MBTR) based on a more limited targeted gene panel (TGP) plus array‐based comparative genomic hybridization (aCGH). Materials and Methods: In this retrospective analysis, we selected 50 patients previously included in the PROFILER trial (NCT01774409) for which no MBT could be recommended based on a targeted 90‐gene panel and aCGH. For each patient, the frozen tumor sample mirroring the FFPE sample used for TGP/aCGH analysis were processed for WES and RNA‐Seq. Data from TGP/aCGH were reanalyzed, and together with WES/RNA‐Seq, findings were simultaneously discussed at a new molecular tumor board (MTB). Results: After exclusion of variants of unknown significance, a total of 167 somatic molecular alterations were identified in 50 patients (median: 3 [1–10]). Out of these 167 relevant molecular alterations, 51 (31%) were common to both TGP/aCGH and WES/RNA‐Seq, 19 (11%) were identified by the TGP/aCGH only and 97 (58%) were identified by WES/RNA‐Seq only, including two fusion transcripts in two patients. A MBTR was provided in 4/50 (8%) patients using the information from TGP/aCGH versus 9/50 (18%) patients using WES/RNA‐Seq findings. Three patients had similar recommendations based on TGP/aCGH and WES/RNA‐Seq. Conclusions: In advanced and refractory cancer patients in whom no MBTR was recommended from TGP/aCGH, WES/RNA‐Seq allowed to identify more alterations which may in turn, in a limited fraction of patients, lead to new MBTR. [ABSTRACT FROM AUTHOR] |
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| Database: | Complementary Index |
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