A case report of malignant peripheral nerve sheath tumour of the left thigh and popliteal fossa with lungs, spleen, and brain dissemination related to neurofibromatosis type 1

Abstract

A malignant peripheral nerve sheath tumour (MPNST) is a highly aggressive sarcoma. This disease develops in a number of people with neurofibromatosis type 1 (NF1), which is a common genetic disease. The paper presents a patient with typical manifestations of a malignant tumour of the peripheral nerve sheath, in the form of a large tumour of primary localisation in the distal part of the left thigh and left popliteal fossa and with significant dissemination into the lung parenchyma, which was accompanied by respiratory risk. The first operation of the tumour was done four years earlier, after which the patient did not come for regular check-ups. Nine cycles of chemotherapy were performed by Doxorubicin / Ifosfamide / Mesna protocol with clinical improvement and stabilisation, but without a significant impact on the dynamics of the disease and the overall survival was 14 months. It is of utmost importance to early recognise clinical presentation of the malignant form of this tumour and active supervision of a patient with a benign form by experts. In this way, it is possible to apply the optimal treatment modality in a timely manner.