AUTHOR=Qi Maoyang , Jiang Nan , Duan Wanru , Chen Zan 

TITLE=A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature

JOURNAL=Frontiers in Neurology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1178651

DOI=10.3389/fneur.2023.1178651

ISSN=1664-2295

ABSTRACT=It is believed that malignant peripheral nerve sheath tumors have a poor prognosis and are usually caused by germline mutations in the SMARCB1/INI-1 gene. However, these tumors are rarely found in the spine. This case describes a 3-year-old boy with a lumbosacral dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor. By immunohistochemistry, a complete absence of the SMARCB1/INI-1 protein was shown. Genetic testing revealed a novel germline mutation in the SMARCB1/INI-1 gene in the patient and his father, which was regarded as a “second-hit loss”. After radical resection of the tumor, no suspected metastasis occurred in a one-year follow-up. This case report provides the novel genetic research results of the spinal dumbbell-shaped malignant peripheral nerve sheath tumors. A literature review highlighted that radical resection combined with radiotherapy and chemotherapy may be necessary to achieve local control for recurrence.