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

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.

Publication Details

Journal
Apollo (University of Cambridge)
Published
2025-04-02
DOI
https://doi.org/10.17863/cam.117155
Primary Topic
Fetal and Pediatric Neurological Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Apollo (University of Cambridge)
Fetal and Pediatric Neurological Disorders
article

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

article en

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.

Apollo (University of Cambridge)
Quality Education
Openalex Percentile: Top 47%
Fetal and Pediatric Neurological Disorders
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Lingual hamartoma-like lipoblastoma: the diagnostic value of routine whole-genome sequencing. · Apollo (University of Cambridge) (2025) | TGRS Research Map | TGRS