Implementation and use of whole exome sequencing for metastatic solid cancer

转移性实体癌全外显子组测序的实施与应用

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作者:Manon Réda, Corentin Richard, Aurelie Bertaut, Julie Niogret, Thomas Collot, Jean David Fumet, Julie Blanc, Caroline Truntzer, Isabelle Desmoulins, Sylvain Ladoire, Audrey Hennequin, Laure Favier, Leila Bengrine, Julie Vincent, Alice Hervieu, Jean-Florian Guion Dusserre, Come Lepage, Pascal Foucher,

Background

Genomically-guided clinical trials are performed across different tumor types sharing genetic mutations, but trial organization remains complex. Here we address the feasibility and utility of routine somatic and constitutional exome analysis in metastatic cancer patients.

Methods

Exoma trial (NCT02840604) is a multicenter, prospective clinical trial. Eligible patients presented a metastatic cancer progressing after at least one line of systemic therapy. Constitutional genetics testing required geneticist consultation. Somatic and germline exome analysis was restricted to 317 genes. Variants were classified and molecular tumor board made therapeutic recommendations based on ESMO guidelines. Primary endpoint was the feasibility of the approach evaluated by the proportion of patient that received a therapeutic proposal. Findings: Between May 2016 and October 2018, 506 patients were included. Median time required for tumor sample reception was 8 days. Median time from sample reception to

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