A new study sheds light on the mechanisms behind the development of aggressive juvenile brain tumours.

A new study sheds light on the mechanisms behind the development of aggressive juvenile brain tumours.
A new study undertaken by researchers at Tampere University and Tampere University Hospital demonstrated how abnormal epigenetic regulation contributes to the formation of atypical teratoid/rhabdoid (AT/RT) tumours, which are aggressive brain tumours that primarily affect young children.

There is an urgent need for greater study in this field because present treatments are inadequate against these extremely aggressive tumours.

Found in the Life Science Alliance journal.

Most cancers take a long time to develop because dangerous mutations accumulate in cells' DNA over time.

AT/RT tumours are a rare exception, as they result from the inactivation of a single gene.

AT/RT tumours are uncommon central nervous system embryonic cancers that primarily afflict babies and young children.

Every year, an average of 73 persons in the United States are diagnosed with AT/RT.

However, AT/RT is the most prevalent central nervous system tumour in children under the age of one, accounting for 40-50% of diagnosis.

The outlook for AT/RT patients is bleak, with a postoperative median survival rate of approximately 11-24 months.

Tampere University and Tampere University Hospital conducted a collaborative study to investigate how aberrant DNA methylation affects cellular developmental pathways, contributing to the genesis of AT/RT.

DNA methylation is the process of adding methyl groups to the DNA strand.

DNA methylation is one of the processes used by cells to regulate gene expression, and methylation patterns alter during normal brain development.

The current study found that DNA methylation inhibits the action of numerous regulators that normally regulate the differentiation and maturation of central nervous system cells throughout brain development.

Disrupted cell differentiation promotes aberrant, uncontrolled cell proliferation, which finally leads to cancer formation.

The study also discovered that several genes that regulate cell differentiation or limit cancer formation are silenced in AT/RT, along with increased DNA methylation.

The findings will allow researchers to gain a more complete understanding of the epigenetic dysregulation mechanisms involved in AT/RT pathogenesis, as well as identify which genes contribute to the tumor's malignant growth.

"These findings will shed light on the formation of AT/RTs and their malignancy. The findings will assist to hasten the development of novel treatments for this aggressive brain cancer in the future, according to Tampere University Docent Kirsi Rautajoki.

Kirsi Rautajoki and Professor Matti Nykter's research groups at Tampere University carried out the majority of the research.

Tampere University Hospital's primary partners included paediatrician Kristiina Nordfors, neurosurgeon Joonas Haapasalo, and neuropathologist Hannu Haapasalo.