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PubMed | University of Auckland, Royal Prince Alfred Hospital and Canterbury Health Laboratories Christchurch
Type: | Journal: Histopathology | Year: 2016

The role of pathologists is to provide diagnostic, prognostic and predictive data to enable clinical colleagues to optimally manage patients. Current histo/anatomical pathology is predominantly morphology based with the addition of biomarkers, largely applied through immunohistochemistry, Fluorescence In Situ Hybridisation (FISH) and a limited range of Polymerase Chain Reaction (PCR)-based molecular tests. The desire to apply genomics to the clinical care of patients has been facilitated by the human genome project and subsequently by high throughput technologies collectively known as Massive Parallel Sequencing (MPS, also referred to as Next Generation Sequencing NGS). The use of MPS to identify mutations/variants and tissue RNA expression profiles for diagnosis, prognostication and targeted therapy stratification is now a reality in many clinical specialties. If histopathologists are considered experts in solid tumour pathology, MPS potentially falls within their scope however it challenges our predominant morphology-based paradigm. This review summarises and comments on the current and future state of play of MPS for the practising histopathologist. It will focus on somatic mutations in solid tumours and will challenge histopathologists to take further leadership roles in this area. This article is protected by copyright. All rights reserved.

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