Lingual hamartoma-like lipoblastoma: the diagnostic value of routine whole-genome sequencing.

Abstract

Paediatric tongue lesions are rare and diagnostically challenging as a result 1. Histopathology often suffices for diagnosis, but some lesions require molecular assessment for precise characterisation. All patients under 25 years-of-age with a differential that includes neoplasia are eligible for whole genome sequencing (WGS) on the NHS, and widespread adoption has the potential to disrupt routine pathology practice by providing comprehensive genomic characterisation within days 2-4. Here, we describe a two-year-old with a tongue lesion that highlights the diagnostic value of routine WGS.