Atypical Teratoid Rhabdoid Tumor: A Rare And Aggressive Brain Tumor

Genetic testing and counselling may be recommended for individuals with ATRT to assess potential genetic predisposition and provide appropriate management strategies.

World Brain Tumor Day 2023: Brain tumours are abnormal growths of cells in the brain or the surrounding tissues. They can develop from different types of cells within the brain. Atypical Teratoid Rhabdoid Tumor (ATRT) is a rare, aggressive brain tumour predominantly affecting children. ATRT is considered rare, accounting for approximately 1-2% of all pediatric brain tumours. It primarily affects children under 3, although it can occur in older children and even adults, albeit rarely. The exact reasons for its rarity are not fully understood, but it is aggressive nature and distinct genetic alterations contribute to its infrequency. ATRT is characterized by rhabdoid cells, large and abnormal cells observed under a microscope. These tumours typically occur in various regions, such as the cerebrum, cerebellum, and spinal cord. ATRT is considered a rare tumour, accounting for approximately 1-2% of all pediatric brain tumours. In this article, Dr Susant Kumar Das, Sr. Consultant Neurosurgery, CARE Hospitals, Bhubaneswar, explains ATRT in detail.

Causes And Genetic Factors

The exact causes of Atypical Teratoid Rhabdoid Tumor (ATRT) are not fully understood. However, research has revealed certain genetic and molecular factors contributing to its development.

1. Genetic Alterations – Most ATRTs are associated with mutations or deletions in the SMARCB1 gene (also known as INI1 or SNF5). The SMARCB1 gene produces a protein called SMARCB1, which regulates gene expression and suppresses tumour growth the inactivation or loss of SMARCB1 protein function development of ATRT.
2. Other Factors – While the primary causative factors for ATRT are genetic, additional research is needed to determine if other environmental or external factors may contribute to its development. However, no specific environmental or lifestyle factors have been definitively linked to ATRT.
3. Rhabdoid Tumor Predisposition Syndrome – In some cases, ATRT can occur in individuals with an inherited condition known as rhabdoid tumour predisposition syndrome. SMARCB1 gene increases the risk of developing ATRT and other rhabdoid tumour types.
4. Epigenetic Factors – Epigenetic modifications may also contribute to the development of ATRT. These modifications can affect gene regulation in cell growth, differentiation, and tumour suppression.

Symptoms

The symptoms of ATRT vary depending on the tumour’s size and location. Common symptoms include persistent headaches, nausea, vomiting, changes in behaviour, irritability, seizures, balance problems, and developmental delays in young children. Prompt medical attention should be sought if these symptoms arise, especially in children.

Treatment Options

The treatment approach for ATRT typically involves a combination of surgery, radiation therapy, and chemotherapy. Surgical removal of the tumour is the primary objective, followed by radiation therapy to target any remaining cancer cells. Chemotherapy is administered to shrink the tumour and reduce the risk of recurrence. Treatment plans may vary based on the patient’s age, tumour size, location, and overall health.

Conclusion

ATRT is a rare and aggressive brain tumour primarily affecting children. Although the exact reasons for its rarity remain unclear, advancements in understanding its genetic alterations and associated factors have shed light on its development. The result of ATRT is a complex process with underlying causes and mechanisms involved fully. Genetic testing and counselling may be recommended for individuals with ATRT or a family history of rhabdoid tumours to assess potential genetic predisposition and provide appropriate management strategies.