Background Marked variation exists in the use of genomic data in tumour diagnosis, and
optimal integration with conventional diagnostic technology remains uncertain despite …

Somatic mutations in ACVR1 are found in a quarter of children with diffuse intrinsic pontine
glioma (DIPG), but there are no ACVR1 inhibitors licensed for the disease. Using an artificial …

After nearly a century of histological classification of central nervous system tumours, the
2016 revised WHO classification has incorporated molecular features with clinical and …

The appropriate analysis of skeletal muscle tissues is a key element in many diagnostic
procedures and can deliver valuable information about the organ that is affected. Although …

BACKGROUND AND PURPOSE: Tumour hypoxia is associated with a poor prognosis in
head and neck squamous cell carcinoma (HNSCC), however there is no accepted method …

We describe molecular convergence between BMI1 and CHD7 in the initiation of
medulloblastoma. Identified in a functional genomic screen in mouse models, a BMI1 High; …

Andersen–Tawil syndrome is a neurological channelopathy caused by mutations in the
KCNJ2 gene that encodes the ubiquitously expressed Kir2. 1 potassium channel. The …

Background Intraosseous locations are extremely rare when it comes to schwannomas and
account for 0.2% of primary bone tumors. The most common intraosseous locations include …

Purpose: The DNA mismatch repair (MMR) pathway is required for the maintenance of
genome stability. Unsurprisingly, mutations in MMR genes occur in a wide range of different …

Background Medulloblastoma is the most common intracranial childhood malignancy and a
genetically heterogeneous disease. Despite recent advances, current therapeutic …