Intrathoracic peripheral nerve sheath tumors in patients with neurofibromatosis type 1 (von Recklinghausen disease)

Neurofibromatosis, type 1 (von Recklinghausen disease).

Type 1 neurofibromatosis (von Recklinghausen disease).

Type 1 neurofibromatosis (NF1), or von 
Recklinghausen disease, is a genetic disorder that is well known for its clinical features. 
Effective treatment modalities for NF1 have not yet been established. The advent of new treatment options for NF1 such as topical vitamin D3 analogues, lovastatin, rapamycin (or sirolimus), and imatinib mesylate has added new dimensions that require further invest...

Intrathoracic Malignant Peripheral Nerve Sheath Tumor in von Recklinghausen’s Disease

Malignant peripheral nerve sheath tumor (MPNST) is defined as any malignant tumor arising from or differentiating toward the cells of the peripheral nerve sheath. MPNST accounts for about 5-10% of all soft tissue tumors and is often associated with neurofibromatosis type I (NF-1, von Recklinghausen's disease). It is one of the malignant tumors associated with von Recklinghausen's disease. Its c...

Methylated RASSF1A in malignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosis

BACKGROUND Malignant peripheral nerve sheath tumor (MPNST) is a rare and highly aggressive disease with no evidence of effect from adjuvant therapy. It is further associated with the hereditary syndrome neurofibromatosis type 1 (NF1). Silencing of the tumor suppressor gene RASSF1A through DNA promoter hypermethylation is known to be involved in cancer development, but its impact in MPNSTs remai...

Huge Intrathoracic Malignant Peripheral Nerve Sheath Tumor in an Adolescent with Neurofibromatosis Type 1

Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue malignancy usually found in patients with neurofibromatosis type 1 (NF1) with a poor outcome. Although MPNST can be found in any part of the body including head and neck or extremities, intrathoracic MPNST with or without NF1 is uncommon, especially in children or adolescents. Reported herein is a case of huge intrathoracic M...