Malignant peripheral nerve sheath tumour presenting as pathological fracture of proximal femur in neurofibromatosis type-1: a case report with brief literature search.

Abstract

Neurofibromas, in association with NF-1, can undergo a malignant transformation, giving rise to Malignant peripheral nerve sheath tumours (MPNSTs), a relatively rare entity. Clinically, it presents with non-specific symptoms like pain and numbness, distinguishing it from other nerve lesions difficult. There is a lack of data on the occurrence of MPNST in NF-1 in children and adults, and distant metastasis to the brain and bones is reported only in a few cases. In this case report, we present the unusual presentation of MPNST with metastasis to the proximal femur and liver in a patient with NF-1 and its management. Patients and clinicians should be made aware of the relatively high risk of MPNST in NF-1, which is characterized by pain and rapid growth, and regular follow-up is needed for NF-1 patients for early diagnosis of malignant transformation. So, this case report is presented to enhance the understanding and awareness regarding this rare presentation.