Abstract
Neurofibromatosis-1 (NF-1) is a relatively common autosomal dominant disease characterized by multiple cutaneous fibromatoses and café au lait spots. It is associated with the mutation of NF-1 gene, a tumor suppressor gene located on chromosome 17q11.2. Hence, it can be considered as a familial cancer predisposition syndrome in which the affected individuals are at increased risk of developing malignancies. Intraoral neurofibromas associated with NF-1 are quite common, but the occurrence of malignant peripheral nerve sheath tumor (MPNST) in the oral cavity is very rare. Oral MPNST can occur either de novo or by malignant transformation of neurofibromas or very rarely can represent a metastatic lesion. Here, we present a case of MPNST involving the maxillary region, in a patient with NF-1. Since MPNST often creates a diagnostic dilemma, histopathologic criteria for the diagnosis of MPNST are also discussed.
Highlights
The term “neurofibromatosis” refers to a group of genetic disorders that primarily affect the cell growth of neural tissues
We report a case of multiple Malignant peripheral nerve sheath tumor (MPNST) in a patient with NF-1, who presented with a swelling on the right maxillary region
He gave the history of dull aching pain associated with the swelling. His past medical history revealed that multiple cutaneous nodules seen on the entire body [Figures 1 and 2] were present since he was 13 years old. He was evaluated for the complaint of pain in the right chest 4 months back, following which chest X-ray, computed tomography (CT) and magnetic resonance imaging (MRI) scan were taken
Summary
The term “neurofibromatosis” refers to a group of genetic disorders that primarily affect the cell growth of neural tissues. We report a case of multiple MPNST in a patient with NF-1, who presented with a swelling on the right maxillary region. He gave the history of dull aching pain associated with the swelling His past medical history revealed that multiple cutaneous nodules seen on the entire body [Figures 1 and 2] were present since he was 13 years old. He was evaluated for the complaint of pain in the right chest 4 months back, following which chest X-ray, computed tomography (CT) and magnetic resonance imaging (MRI) scan were taken. The patient developed similar lesions on the scalp and the right side of the upper back region and succumbed to death after 2 months
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