(IN BRIEF) Researchers at The Institute of Cancer Research, London, have found that the precise location of ATRX gene mutations plays a critical role in determining how neuroblastoma tumours behave and respond to treatment. Published in Neoplasia and supported by a Cancer Research UK Clinician Scientist Fellowship, the study used stem cell-based models to show that different mutation sites within the same gene can lead to distinct biological behaviours. These findings help explain why children with seemingly similar ATRX-mutant tumours can experience different clinical outcomes. By moving beyond broad genetic classifications, the research supports a more nuanced understanding of tumour biology and opens the door to improved patient stratification and more personalised treatment approaches for children with neuroblastoma.

(PRESS RELEASE) LONDON, 13-Feb-2026 — /EuropaWire/ — The Institute of Cancer Research, London (ICR), London, have demonstrated that subtle differences in the precise location of mutations within the ATRX gene help explain why children diagnosed with the same form of neuroblastoma can experience markedly different responses to treatment. The findings provide new biological insight that could guide more tailored therapy decisions in the future.

The study, published in Neoplasia and largely supported by a Cancer Research UK Clinician Scientist Fellowship, builds on growing evidence that ATRX-mutant tumours form a distinct clinical subgroup within neuroblastoma. Additional support came from Siobhan’s Superstar Legacy in collaboration with Arcobaleno Cancer Trust.

Neuroblastoma is a childhood cancer arising from immature nerve cells known as neuroblasts, most often developing in the adrenal glands. The disease primarily affects children under five and ranges from relatively slow-growing tumours to highly aggressive forms. Current treatment strategies frequently include differentiation therapy, designed to encourage immature cancer cells to mature into normal, functioning cells. However, clinical outcomes vary considerably among patients, even when tumours share similar genetic markers.

ATRX, a gene involved in organising and maintaining DNA structure within cells, is commonly altered in neuroblastoma. While the presence of ATRX mutations has long been associated with certain disease patterns, clinicians have observed inconsistent responses to treatment among patients carrying these mutations.

To investigate this heterogeneity, the ICR-led team used advanced stem cell-based laboratory models that replicate neuroblastoma progression. Their analysis revealed that mutations affecting different regions of the ATRX gene are associated with distinct biological behaviours. This discovery helps clarify why tumours classified under the same genetic label may nonetheless respond differently to therapy.

By mapping specific mutation locations to variations in tumour biology and treatment response, the study moves beyond broad mutation categories and introduces a more detailed understanding of tumour genetics. The work strengthens the link between laboratory research and clinical decision-making, highlighting the need for more refined patient stratification.

Dr Federica Lorenzi, Senior Scientific Officer in the Paediatric Solid Tumour Biology and Therapeutics Group at the ICR and first author of the study, noted that pinpointing the exact location of an ATRX mutation can significantly influence how a tumour reacts to therapy. She emphasised that this deeper insight could eventually support more precise clinical recommendations rather than relying on uniform treatment approaches.

Senior author Dr Sally George, Group Leader of Developmental Oncology at the ICR, described the findings as a meaningful step toward integrating molecular insights into routine care. She highlighted the importance of continuing stem cell modelling research to better understand tumour behaviour and develop innovative strategies for specific patient subgroups.

While current therapies benefit some children with neuroblastoma, identifying those most likely to respond remains challenging. The research team aims to expand their investigations to further unravel how genetic variations shape tumour progression and to advance more personalised treatment strategies for young patients.

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SOURCE: The Institute of Cancer Research

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