The atypical teratoid rhabdoid tumor (ATRT) is a rare and aggressive type of brain tumor which mainly affects children.
The exact cause of atypical teratoid rhabdoid tumor is not fully understood. However, it is believed to be caused by mutations or alterations in the SMARCB1 gene, which is located on chromosome 22. In the brain, these genetic changes cause abnormal rhabdoid cells that proliferate rapidly and form tumors. The occurrence of ATRT may be sporadic, but it may also be associated with genetic syndromes, such as rhabdoid tumor predisposition syndrome (RTPS) or familial cancer predisposition syndromes.
Atypical teratoid rhabdoid tumor symptoms vary with the size, location, and growth rate of the tumor within the brain. Common symptoms include:
Persistent or recurrent headaches, which often become more severe or frequent over time.
When cerebrospinal fluid (CSF) flow is blocked or surrounding brain structures are compressed, nausea, vomiting, and signs of increased intracranial pressure can occur.
A person with ATRT may experience new-onset seizures or changes in seizure frequency, duration, or severity.
As a result of the tumor's location and involvement in specific brain regions, neurological symptoms such as weakness, paralysis, sensory changes, or coordination difficulties may develop.
Children with frontal or temporal lobe tumors may experience changes in behavior, mood, personality, or cognitive function.
Atypical teratoid rhabdoid tumors are diagnosed using a combination of clinical, neuroimaging, and pathological evaluation.
The most effective imaging modality for evaluating suspected brain tumors, including ATRT, is magnetic resonance imaging (MRI). MRI can provide detailed information about the size, location, and characteristics of the tumor in the brain.
A biopsy or surgical resection of the tumor is typically performed to confirm the diagnosis and the presence of rhabdoid cells.
ATRT is associated with mutations or deletions in the SMARCB1 (INI1) gene, especially in cases with suspected familial predisposition syndromes.
CSF analysis: Lumbar puncture and CSF analysis can be used to diagnose leptomeningeal metastasis or tumor dissemination within the central nervous system.
Typically, atypical teratoid rhabdoid tumors are treated with surgery, chemotherapy, and radiation therapy.
The primary treatment method for tumors is surgical removal. Complete or subtotal resection of the tumor alleviates symptoms, reduces tumor burden, and improves prognosis.
To target residual tumor cells, prevent tumor recurrence, or delay progression of the disease, chemotherapy regimens may include cisplatin, etoposide, cyclophosphamide, vincristine, and high-dose methotrexate.
For individuals with high-risk features, such as incomplete resection, leptomeningeal spread, or metastatic disease, adjuvant radiation therapy may be recommended to improve local tumor control and survival.
Based on the results of molecular profiling or genetic testing, targeted therapies or immunotherapeutic approaches may be considered.
Early detection, prompt intervention, and access to comprehensive medical care are necessary to prevent atypical teratoid rhabdoid tumor. For individuals with suspected familial predisposition syndromes or known genetic mutations associated with ATRT, regular health screenings, genetic counseling, and family-based risk assessments may be recommended. Healthcare professionals, parents, and caregivers can also be made aware of the signs and symptoms of ATRT so that early diagnosis and timely referral can be made.
As a result, atypical teratoid rhabdoid tumors are rare and aggressive brain tumors that are mainly affecting children. For individuals with ATRT to achieve optimal outcomes and improve survival rates, early recognition, accurate diagnosis, and prompt initiation of multidisciplinary treatment are crucial. For proper evaluation and management by a team of experienced healthcare professionals, seek immediate medical attention if you or someone you know exhibits symptoms suggestive of ATRT.
