Genetic profiling of melanoma in routine diagnostics: assay performance and molecular characteristics in a consecutive series of 274 cases
A deeper understanding of melanoma biology has opened up new avenues for mechanistically informed therapies. However, data on the prevalence of druggable genetic lesions in melanoma are still conflicting and real-world performance data on high-throughput genetic profiling of melanoma cases using for...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
20 October 2018
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| In: |
Pathology
Year: 2018, Volume: 50, Issue: 7, Pages: 703-710 |
| ISSN: | 1465-3931 |
| DOI: | 10.1016/j.pathol.2018.08.004 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1016/j.pathol.2018.08.004 Verlag: http://www.sciencedirect.com/science/article/pii/S0031302518302149 
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| Author Notes: | Jonas Leichsenring, Fabian Stögbauer, Anna-Lena Volckmar, Ivo Buchhalter, Cristiano Oliveira, Martina Kirchner, Stefan Fröhling, Jessica Hassel, Alexander Enk, Peter Schirmacher, Volker Endris, Roland Penzel, Albrecht Stenzinger |
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| 520 | |a A deeper understanding of melanoma biology has opened up new avenues for mechanistically informed therapies. However, data on the prevalence of druggable genetic lesions in melanoma are still conflicting and real-world performance data on high-throughput genetic profiling of melanoma cases using formalin fixed, paraffin embedded (FFPE) tissue with variable tumour cellularity and quality are lacking. We retrospectively analysed targeted next-generation sequencing data of 274 consecutive melanoma samples obtained for routine diagnostics between December 2013 and July 2017. Actionable mutations were detected in 197 cases (71.9%), of which activating BRAF (mostly p.V600E/K) and RAS (mostly p.Q61R/K) mutations occurred in 40.5% (n = 111) and 30.3% (n = 83) of cases, respectively. We identified driver mutations of the Triple-WT subgroup in 10.6% of cases (n = 29; 10 with activating KIT mutations). Median turnaround time was 5 working days with no dropouts. Tumour cellularity ranged from 5% to 95% and successful sequencing was possible at DNA concentrations as low as 0.03 ng/μL (median 10.58 ng/μL; range 0.03-209.05 ng/μL). Fast, quality-controlled high-throughput genetic profiling of FFPE melanoma samples is feasible and provides a landscape of genetic aberrations in melanoma that is currently relevant in clinical practice and approximates TCGA subtypes. | ||
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