Combining genomic analyses with tumour-derived slice cultures for the characterization of an EGFR-activating kinase mutation in a case of glioblastoma - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue BMC Cancer Année : 2018

Combining genomic analyses with tumour-derived slice cultures for the characterization of an EGFR-activating kinase mutation in a case of glioblastoma

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Louison Collet
  • Fonction : Auteur
  • PersonId : 1178768
  • IdRef : 264854047
Henri Sevestre
Brigitte Gubler
  • Fonction : Auteur
  • PersonId : 1151787
  • IdRef : 18910158X

Résumé

Background: Epidermal growth factor receptor (EGFR) gene alterations and amplification are frequently reported in cases of glioblastoma (GBM). However, EGFR-activating mutations that confer proven sensitivity to tyrosine kinase inhibitors (TKIs) in lung cancer have not yet been reported in GBM. Case presentation: Using next-generation sequencing, array comparative genomic hybridization and droplet digital PCR, we identified the p.L861Q EGFR mutation in a case of GBM for the first time. The mutation was associated with gene amplification. L861Q may be a clinically valuable mutation because it is known to sensitize non-small-cell lung cancers to treatment with the second-generation EGFR TKI afatinib in particular. Furthermore, we used slice culture of the patient's GBM explant to evaluate the tumour's sensitivity to various EGFR-targeting drugs. Our results suggested that the tumour was not intrinsically sensitive to these drugs. Conclusions: Our results highlight (i) the value of comprehensive genomic analyses for identifying patient-specific, targetable alterations, and (ii) the need to combine genomic analyses with functional assays, such as tumour-derived slice cultures.

Dates et versions

hal-03598674 , version 1 (05-03-2022)

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Citer

Lea Loriguet, Mony Chenda Morisse, Julie Dremaux, Louison Collet, Christophe Attencourt, et al.. Combining genomic analyses with tumour-derived slice cultures for the characterization of an EGFR-activating kinase mutation in a case of glioblastoma. BMC Cancer, 2018, 18, ⟨10.1186/s12885-018-4873-9⟩. ⟨hal-03598674⟩
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