Mohammed Babgi1, Alaa Samkari1,2, Abeer Al-Mehdar1,3, Shaker Abdullah1,4. 1. College of Medicine, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia. 2. Department of Pathology, National Guard Hospital, King Abdulaziz Medical City, Jeddah, Saudi Arabia. 3. Department of Radiology, National Guard Hospital, King Abdulaziz Medical City, Jeddah, Saudi Arabia. 4. Department of Pediatric Oncology, National Guard Hospital, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
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.
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: John Choi; Yuan Rui; Jayoung Kim; Noah Gorelick; David R Wilson; Kristen Kozielski; Antonella Mangraviti; Eric Sankey; Henry Brem; Betty Tyler; Jordan J Green; Eric M Jackson Journal: Nanomedicine Date: 2019-10-23 Impact factor: 6.096