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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: Leichsenring, Jonas (Author) , Stögbauer, Fabian (Author) , Volckmar, Anna-Lena (Author) , Kirchner, Martina (Author) , Fröhling, Stefan (Author) , Hassel, Jessica C. (Author) , Enk, Alexander (Author) , Schirmacher, Peter (Author) , Endris, Volker (Author) , Penzel, Roland (Author) , Stenzinger, Albrecht (Author)
Format: Article (Journal)
Language:English
Published: 20 October 2018
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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Summary: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.
Item Description:Gesehen am 26.02.2020
Physical Description:Online Resource
ISSN:1465-3931
DOI:10.1016/j.pathol.2018.08.004

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