An intraosseous malignant peripheral nerve sheath tumor of the lumbar spine without neurofibromatosis: Case report and review of the literature

Abstract

A malignant peripheral nerve sheath tumor (MPNST) is defined as any malignant tumor that develops or differentiates from cells in the peripheral nerve sheath. This tumor is commonly associated with neurofibromatosis type 1 (NF1) and previous radiotherapy treatment. Primary intraosseous MPNSTs are extremely rare and a case of the lumbar spine in a patient without NF1 is reported in the present study, with a review of the intraosseous MPNST literature. A 45-year-old female presented with a 1-month history of severe lower back pain and pain radiating to the left leg. A total en bloc spondylectomy of L4 was performed. The postoperative histopathological diagnosis was MPNST with deletion of NF1, confirmed by dual-color fluorescence in situ hybridization (FISH) analysis. The tumor recurred 1 month following the surgery. Although adjuvant chemotherapy was administered, the patient succumbed due to intramedullary dissemination and carcinomatous meningitis 8 months following the initial consultation. NF1 deletion by FISH analysis may be particularly useful in distinguishing MPNST from other high-grade malignancies with overlapping morphological features.

Immunohistochemical features of giant cell ependymoma of the filum terminale with unusual clinical and radiological presentation

“…MRI of the lumbosacral spine shows a large mass originating in the cauda equina with surrounding bony destruction. These are very aggressive tumors that recur and metastasize with poor survival [15, 16]. In our case, the tumor invaded the nerve roots.…”

“…The differential diagnosis of GCE should initially include other intradural extramedullary tumors, particularly those located in the lumbar region, including some benign or malignant, primary or metastatic, tumors both primary and metastatic, but histologically characterized by the presence of giant cells. The differential diagnosis encompasses paragangliomas [14], malignant peripheral nerve sheath tumors (MPNST) [15, 16], and metastatic tumors [17, 18]. The approach to the differential diagnosis should consider the clinical findings, imaging, morphologic and IHC features.…”

“…Although, MPNST of the lumbar area are exceptionally rare, they usually develop in the spinal nerve roots and lead to secondary bony changes [15, 16]. MRI of the lumbosacral spine shows a large mass originating in the cauda equina with surrounding bony destruction.…”

“…However, our patient is currently alive and with no metastatic activity. By IHC both tumors may express S100 protein and PAGF [15, 16]. Therefore, it is convenient to use an antibody panel, which must include CD56, CD99, bcl-2 and cyclin D1, which in our case were positive while in the MPNST are negative.…”

Malignant Peripheral Nerve Sheath Tumor of the Femur: A Rare Diagnosis Supported by Complete Immunohistochemical Loss of H3K27me3

“…MPNST typically develops from the soft tissues, and development primary to the bone is exceptional. Primary MPNST of the bone has been most commonly reported in the mandible and spine, 1,2 likely associated with the mandibular and spinal nerves that transgress the skeleton, respectively. In contrast, only 15 cases of primary osseous MPNSTs have been reported in the extremities, such as the femur, ulna, and humerus.…”