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Genomic alterations in salivary gland carcinomas: an illustrated update
Abstract:Since the publication of our review on genomic alterations in salivary gland tumours in Diagnostic Histopathology in 2020, there have been several major developments. In the United Kingdom, next generation sequencing (NGS) of several tumour types is now commissioned by the National Health Service (NHS) either by whole genome sequencing (WGS) of fresh tumours, or targeted NGS in formalin-fixed paraffin embedded (FFPE) tissue. The UK genomic test directory includes several key gene fusion tests in salivary tumours, including NTRK, MAML2, EWSR1 and MYB. These can aid the clinician not only in refining histopathological classification in challenging cases, but they also have important therapeutic implications for patients with recurrent disease or where standard-of-care management options have been exhausted. This review will provide a brief update, including newly described entities since the previous review (most notably microsecretory carcinoma), as well as illustrating the utility of genomic testing in salivary tumours using several recent examples from our clinical practice.
Keywords:genomic medicine  molecular diagnostics  salivary pathology
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