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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.

Author information

1
Department of Pathology, Copenhagen University Hospital, Copenhagen, Denmark.
2
Pathology Department, Hospital del Mar, Barcelona, Spain.
3
Oncology Department, Hospital del Mar, Barcelona, Spain.
4
Department Clinical Biology, Imelda Hospital, Bonheiden, Belgium.
5
Department Anatomic Pathology, Imelda Hospital, Bonheiden, Belgium.
6
Unit Molecular Pathology, Laboratorium Pathologie Oost-Nederland, Hengelo, The Netherlands.
7
Pathology Department, Jan Yperman Hospital, Ieper, Belgium.
8
Pathology Department, Städtischen Klinikum Karlsruhe, Germany.
9
Biocartis NV, Mechelen, Belgium.
10
Biocartis NV, Mechelen, Belgium. Electronic address: cjans@biocartis.com.

Abstract

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.

PMID:
26407762
DOI:
10.1016/j.yexmp.2015.09.004
[Indexed for MEDLINE]

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