An adult with recurrent atypical teratoid rhabdoid tumor of the spine

Abstract

Atypical teratoid rhabdoid tumors (AT/RT) are rare and highly malignant CNS neoplasms primarily affecting children. Adult cases are extremely uncommon, with only approximately 92 reported. Spinal AT/RT in adults is particularly rare. Here, we present the case of a 50-year-old patient diagnosed with AT/RT of the spine. Initially, they were diagnosed and treated for a spinal ependymoma. However, after 10 years, a recurrence was detected through magnetic resonance imaging (MRI) and the tumor was reclassified as AT/RT. We discuss the significance of SMARCB1 gene mutations in diagnosing AT/RT and describe our unique treatment approach involving surgery, radiation and anti-PD1 therapy in this patient.

Plain language summary

Atypical teratoid rhabdoid tumors (AT/RT) are rare and serious cancers that affect the brain and spine, and mostly occur in children. AT/RT are rare in adults, with only about 92 cases reported. Our article tells the story of a 50-year-old patient, who was diagnosed with a spinal tumor, initially classified as an ependymoma. Ten years later, the tumor recurred, and was found on routine surveillance imaging. After pathological examination of the recurrent tumor, it was diagnosed as AT/RT. The initial tissue was re-examined, and the original tumor was reclassified as an AT/RT. We explain why a gene called SMARCB1 is important for diagnosing AT/RT. Additionally, we share details about the treatments utilized: including surgery, radiation, and medicines that stimulate the immune system to kill cancer cells. This case highlights the challenges and treatments for this rare cancer in adults.

Tweetable abstract

Rare spinal AT/RT case in a 50-year-old adult initially misdiagnosed as ependymoma. Recurrence led to reclassification. Highlights SMARCB1 mutations and treatment with surgery, radiation, and anti-PD1 therapy. #ATRT #SpinalTumor #RareCancer

Practice points

• Atypical teratoid/rhabdoid tumors (AT/RTs) are rare grade 4 CNS neoplasms as classified by the World Health Organization.

• While predominantly identified in the pediatric population, there are instances where AT/RTs can manifest in adulthood, challenging the traditional perception of their occurrence.

• In adults, AT/RT more frequently presents in the brain compared with the spine. AT/RT in the spine may exhibit a comparatively less aggressive nature, but this needs further validation.

• The use of immunohistochemistry and/or next-generation sequencing, is crucial in the diagnosis of AT/RT. This diagnostic process relies on identifying SMARCB1 mutations, emphasizing the significance of molecular markers in confirming the tumor type.

• Despite the absence of a standardized therapeutic approach, the course of treatment for AT/RT may involve surgical resection as the primary intervention, followed by a combination of radiation and chemotherapy.

• Pembrolizumab, a checkpoint inhibitor, emerges as a consideration for potential treatment in cases of spinal AT/RT with a positive PD-L1 status. This novel therapeutic avenue introduces immunotherapy as a potential breakthrough in the management of these tumors.

• For individuals diagnosed with AT/RT of the spine, establishing a routine of serial spine MRIs is imperative. This ongoing monitoring protocol is vital for the early detection of any signs of recurrence, facilitating timely intervention and management adjustments as needed.

Keywords: :

• AT/RT
• atypical teratoid rhabdoid tumor
• checkpoint inhibition
• CNS neoplasm
• PD-1
• SMARCB1 mutation
• spine tumor

Author contributions

AJ Charles: conception and design, acquisition of data, interpretation of data, manuscript writing; VL Smith: acquisition, analysis, and interpretation of data; CR Goodwin: manuscript writing and editing; MO Johnson: conception and design, interpretation of data, manuscript writing and editing.

Financial disclosure

The authors have no financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Competing interests disclosure

CR Goodwin received grants from the Robert Wood Johnson Harold Amos Medical Faculty Development Program, the Federal Food and Drug Administration, and the NIH 1R01DE031053-01A1, acted as a consultant for Stryker and Medtronic and is Deputy Editor for Spine. Patent application/invention disclosures outside of the current work. The authors have no other competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript apart from those disclosed.

Writing disclosure

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained verbal and written informed consent from the patient/patients for the inclusion of their medical and treatment history within this case report.