Atypical Teratoid/Rhabdoid Tumor of the Spinal Cord in a Child: Case Report and Comprehensive Review of the Literature.

Abstract

INTRODUCTION:

Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is characterized by SMARCB1/INI deletion or mutation in the long arm of chromosome 22 11(22q11.2), also resulting in loss of nuclear expression of INI1 protein immunohistochemically. AT/RT tumors usually occur in children below 3 years. The tumor is usually seen in the cerebellum or the cerebrum, with an extremely rare incidence in the spinal cord.

MATERIALS AND METHODS:

We report a rare case of AT/RT in a 6-year-old boy who had a primary spinal cord lesion in the thoracolumbar junction. Pathology revealed loss of nuclear staining of INI1 immunohistochemically. This is the first case reported with mixed intraspinal lesion (intra- and extramedullary). The patient underwent two surgeries and received radiotherapy and chemotherapy; however, he died 16 months after the initial presentation.

RESULTS AND DISCUSSION:

We reviewed the literature on all children with spinal cord AT/RT. The review showed that the cervical region is the most common location of origin, especially in younger children. Reported cases were treated with a combination of surgery, systemic and intrathecal chemotherapy, and radiation therapy, and a survival time of 18 months represented the best outcome. Overall mean survival time was 10 months.

• Authors: Mohammed Babgi, Alaa Samkari, Abeer Al-Mehdar, Shaker Abdullah
• Journal: Pediatric neurosurgery (Pediatr Neurosurg) Vol. 53 Issue 4 Pg. 254-262 ( 2018) ISSN: 1423-0305 [Electronic] Switzerland
• PMID: 29788028 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © 2018 S. Karger AG, Basel.

Chemical References

• SMARCB1 Protein
• SMARCB1 protein, human

Topics

• Child
• Chromosomes, Human, Pair 22 (genetics)
• Combined Modality Therapy
• Humans
• Lumbar Vertebrae
• Magnetic Resonance Imaging
• Male
• Rhabdoid Tumor (genetics, surgery, therapy)
• SMARCB1 Protein (genetics)
• Spinal Cord Neoplasms (therapy)
• Teratoma (genetics, surgery, therapy)
• Thoracic Vertebrae