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.

Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

“…Because of the extramedullary localization of the previously reported spATRT, it is tempting to speculate that these patients might have rather represented extrarenal malignant rhabdoid tumors (eMRT) than true ATRT of the spinal cord, which are difficult to distinguish on histopathological examination . Data showing that tumors in different anatomical sites (CNS vs extrarenal/extracranial vs renal = ATRT vs eMRT vs rhabdoid tumor of the kidney) differ at the molecular levels are still missing.…”

“…To date, spATRT have been reported only anecdotally. 7,8,[16][17][18] Because of the extramedullary localization of the previously reported spATRT, it is tempting to speculate that these patients The vast majority of previous series on ATRT revealed a male predominance. [3][4][5][6]15,19,20 In contrast, in the present series females were more commonly affected than males (8:5).…”

“…In a collaborative European effort, we collected clinical, treatment‐related, molecular, and follow‐up data of 13 patients with intramedullary spATRT. To date, spATRT have been reported only anecdotally …”

Atypical Teratoid/Rhabdoid Tumor of the Conus Medullaris

“…Intradural extramedullary involvement was the most common followed by intramedullary [5]. To date, there have been 14 pediatric cases reporting AT/RT of the conus medullaris (Table 1) [3,5,7,[13][14][15][16][17][18][19][20][21][22][23] and 1 case in an adult [24]. Intradural extramedullary and intramedullary tumors were predominant.…”

“…Intradural extramedullary and intramedullary tumors were predominant. Three cases had concomitant intracranial involvement, including a case of primary clivus-C2 disease with post-treatment metastasis to the conus medullaris [7, 17, 22]. Cases with isolated spinal disease had tumor spanning between 1 to 7 spinal levels [3, 5, 13-16, 18-21, 23].…”