4.5 Article

Evaluation of a Rapid, Fully Automated Platform for Detection of BRAF and NRAS Mutations in Melanoma

Journal

ACTA DERMATO-VENEREOLOGICA
Volume 98, Issue 1, Pages 44-49

Publisher

ACTA DERMATO-VENEREOLOGICA
DOI: 10.2340/00015555-2738

Keywords

melanoma; BRAF; NRAS; immunohistochemistry; Idylla; next-generation sequencing

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Funding

  1. Omnium Group

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BRAF and NRAS genetic analyses are time-consuming and can delay treatment choices in patients with metastatic melanomas presenting with acute deterioration. We compared the rapid, real-time, fully automated molecular diagnosis platform Idylla (TM) with next-generation sequencing (NGS) and immunohistochemistry for detection of BRAF and NRAS mutations in 36 patients with metastatic melanomas. The Idylla (TM) NRAS-BRAF-EGFRS492R mutation assay (110 min per sample) detected BRAF and NRAS mutations in 15 and 17 samples, respectively. One NRAS mutation was different between NGS and Idylla (TM) (NRASG13C vs. NRASG12A/D). Four samples were BRAF and NRAS wild-type. The global concordance between NGS and Idylla (TM) assays was 97.2% (35/36 cases). Immunohistochemistry was positive only in 9/9 BRAFV600E and 6/6 NRASQ61R-mutated samples with VE1 and SP174 antibodies, respectively. The Idylla (TM) platform is a valuable rapid molecular diagnosis tool to reduce the delay in BRAF and NRAS analyses-related treatment choices for patients with metastatic melanoma presenting with acute deterioration.

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