Atypical Teratoid/Rhabdoid Tumor

Definition

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare and highly aggressive cancer of the central nervous system that primarily affects infants and young children. It can occur in the brain or spinal cord and is often associated with mutations in the SMARCB1 gene.

Characteristics

Symptoms vary depending on tumor location but may include vomiting, lethargy, increased head size, irritability, balance problems, and developmental delays. AT/RT is known for its rapid progression and early onset, typically before age 3.

Diagnosis and Prognosis

Diagnosis is based on imaging (MRI), biopsy, and genetic testing to identify SMARCB1/INI1 loss. Prognosis is generally poor due to the tumor’s aggressiveness and resistance to standard treatments, although survival is improving with intensive therapy and clinical trials.

Treatment

Treatment includes a combination of surgery (if feasible), intensive chemotherapy, and radiation therapy. Due to its rarity and severity, AT/RT is often treated within specialized pediatric oncology centers and clinical trial settings.

Last Revised: 12 May , 2025