Atypical teratoid rhabdoid tumor

Atypical teratoid rhabdoid tumor (ATRT) is a rare type of cancer that primarily affects children. It is a highly aggressive tumor that typically occurs in the central nervous system, specifically in the cerebellum or brain stem.

Epidemiology

ATRT is most commonly diagnosed in children under the age of three, but it can occur in older children and adults. It accounts for approximately 1-2% of all pediatric brain tumors.

Pathophysiology

ATRT is characterized by the presence of rhabdoid cells, which are large cells with eccentric nuclei and abundant cytoplasm. These tumors often contain a mixture of different cell types, including neuronal, epithelial, and mesenchymal cells. The genetic hallmark of ATRT is the deletion or mutation of the SMARCB1 gene, which is involved in chromatin remodeling.

Clinical Presentation

Patients with ATRT often present with symptoms of increased intracranial pressure, such as headache, nausea, vomiting, and lethargy. Other symptoms can include ataxia, hemiparesis, and cranial nerve palsies.

Diagnosis

The diagnosis of ATRT is typically made based on the histological appearance of the tumor on biopsy. Magnetic resonance imaging (MRI) is often used to identify the location and extent of the tumor. Genetic testing can also be used to identify the characteristic SMARCB1 mutation.

Treatment

The treatment of ATRT typically involves a combination of surgery, radiation therapy, and chemotherapy. The goal of treatment is to remove as much of the tumor as possible and to kill any remaining cancer cells. Despite aggressive treatment, the prognosis for patients with ATRT is generally poor, with a median survival of less than one year.

Research

Research into ATRT is ongoing, with a focus on understanding the genetic basis of the disease and developing new treatments. Clinical trials are currently being conducted to evaluate the effectiveness of various chemotherapy regimens and targeted therapies.