Intraosseous malignant peripheral nerve sheath tumor in a patient with neurofibromatosis

Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that almost always arise in soft tissue. They can develop in pre-existing neurofibromas or schwannomas, de novo from peripheral nerves, or following radiation therapy. Primary intraosseous MPNST is rare and has been reported most frequently in the mandible. Of the reported cases involving the long bones, none has been associated with neurofibromatosis type 1 (NF-1). We report a case of MPNST arising in the femur in a patient with NF-1.

Slow Spinal Cord Compression Inducing by Malignant Peripheral Nerve Sheath Tumors in Cotonou

“…Plexus and large nerves are the preferential locations. NF1 associated with intraosseous MPNST is less prevalent [9] than with soft tissue injuries [17] and thus the absence of neurofibromatosis type 1 in the case of our patient. In fact, neurofibromatosis type 1 diagnosis is clinical in most cases [18].…”

“…It is much higher among NF1 patients because the NF1 gene located on the long arm of chromosome 17 and encoding the neurofibromin protein plays a role in MPNST genesis [8]. MPNST is associated with neurofibromatosis from 2% to 29% of cases [9] [5]. Plexus and large nerves are the preferential locations.…”

Malignant Fibrous Histiocytoma of Bone Associated with Type-1 Neurofibromatosis

“…everal cases of sarcomas apparently arising at the site of neurofibromatous lesions have been reported 5,12,14,15 . To our knowledge, however, we have described the first case suggesting the possibility of transformation of a type-1 neurofibromatous bone lesion into a malignant fibrous histiocytoma.…”

Intraosseous Nerve Sheath Tumors in the Jaws

“…Although MPNSTs are unusual in the long bones, they have been reported to occur as solitary lesions in the mandible, and they are rarely associated with neurofibromatosis 25,26. They can develop from pre-existing neurofibromas or schwannomas, de novo from the peripheral nerves, or following radiation therapy 27.…”