Special Issue: Next-Generation Sequencing in Tumor Diagnosis and Treatment II

Malapelle, Umberto; Fassan, Matteo; Biase, Dario de

doi:10.3390/diagnostics12082017

Diagnostics

2022

DOI: 10.3390/diagnostics12082017

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Special Issue: Next-Generation Sequencing in Tumor Diagnosis and Treatment II

Umberto Malapelle

Matteo Fassan

Dario de Biase

Abstract: Next-generation sequencing (NGS) allows for the sequencing of multiple genes at a very high depth of coverage [...]

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2024

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Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer

Malapelle,

Leighl,

Addeo

et al. 2024

Br J Cancer

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Non-small cell lung cancer is a heterogeneous disease and molecular characterisation plays an important role in its clinical management. Next-generation sequencing-based panel testing enables many molecular alterations to be interrogated simultaneously, allowing for comprehensive identification of actionable oncogenic drivers (and co-mutations) and appropriate matching of patients with targeted therapies. Despite consensus in international guidelines on the importance of broad molecular profiling, adoption of next-generation sequencing varies globally. One of the barriers to its successful implementation is a lack of accepted standards and guidelines specifically for the reporting and clinical annotation of next-generation sequencing results. Based on roundtable discussions between pathologists and oncologists, we provide best practice recommendations for the reporting of next-generation sequencing results in non-small cell lung cancer to facilitate its use and enable easy interpretation for physicians. These are intended to complement existing guidelines related to the use of next-generation sequencing (solid and liquid). Here, we discuss next-generation sequencing workflows, the structure of next-generation sequencing reports, and our recommendations for best practice thereof. The aim of these recommendations and considerations is ultimately to ensure that reports are fully interpretable, and that the most appropriate treatment options are selected based on robust molecular profiles in well-defined reports.

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Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer

Malapelle,

Leighl,

Addeo

et al. 2024

Br J Cancer

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show abstract

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Special Issue: Next-Generation Sequencing in Tumor Diagnosis and Treatment II

Abstract: Next-generation sequencing (NGS) allows for the sequencing of multiple genes at a very high depth of coverage [...]

Cited by 1 publication

References 15 publications

Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer

Recommendations for reporting tissue and circulating tumour (ct)DNA next-generation sequencing results in non-small cell lung cancer

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