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Exp Mol Pathol. 2015 Dec;99(3):485-91. doi: 10.1016/j.yexmp.2015.09.004. Epub 2015 Sep 25.

Multi-center evaluation of the novel fully-automated PCR-based Idylla™ BRAF Mutation Test on formalin-fixed paraffin-embedded tissue of malignant melanoma.

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Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark.
Pathology Department, Hospital del Mar, Barcelona, Spain.
Oncology Department, Hospital del Mar, Barcelona, Spain.
Department Clinical Biology, Imelda Hospital, Bonheiden, Belgium.
Department Anatomic Pathology, Imelda Hospital, Bonheiden, Belgium.
Unit Molecular Pathology, Laboratorium Pathologie Oost-Nederland, Hengelo, The Netherlands.
Pathology Department, Jan Yperman Hospital, Ieper, Belgium.
Pathology Department, Städtischen Klinikum Karlsruhe, Germany.
Biocartis NV, Mechelen, Belgium.
Biocartis NV, Mechelen, Belgium. Electronic address:


The advent of BRAF-targeted therapies led to increased survival in patients with metastatic melanomas harboring a BRAF V600 mutation (implicated in 46-48% of malignant melanomas). The Idylla(™) System (Idylla(™)), i.e., the real-time-PCR-based Idylla(™) BRAF Mutation Test performed on the fully-automated Idylla(™) platform, enables detection of the most frequent BRAF V600 mutations (V600E/E2/D, V600K/R/M) in tumor material within approximately 90 min and with 1% detection limit. Idylla(™) performance was determined in a multi-center study by analyzing BRAF mutational status of 148 archival formalin-fixed paraffin-embedded (FFPE) tumor samples from malignant melanoma patients, and comparing Idylla(™) results with assessments made by commercial or in-house routine diagnostic methods. Of the 148 samples analyzed, Idylla(™) initially recorded 7 insufficient DNA input calls and 15 results discordant with routine method results. Further analysis learned that the quality of 8 samples was insufficient for Idylla(™) testing, 1 sample had an invalid routine test result, and Idylla(™) results were confirmed in 10 samples. Hence, Idylla(™) identified all mutations present, including 7 not identified by routine methods. Idylla(™) enables fully automated BRAF V600 testing directly on FFPE tumor tissue with increased sensitivity, ease-of-use, and much shorter turnaround time compared to existing diagnostic tests, making it a tool for rapid, simple and highly reliable analysis of therapeutically relevant BRAF mutations, in particular for diagnostic units without molecular expertise and infrastructure.

[Indexed for MEDLINE]

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