P-PN-3
A CASE OF MALIGNANT PERIPHERAL NERVE SHEATH TUMOR IN PATIENT
WITH NEUROFIBROMATOSIS TYPE 1
T. Eftimov1, T. Shamov1, K. Ninov1, I Todorov1, M. Lilov2, A. Fakirova3
1 Department
of Neurosurgery
of Image Diagnostics
3 Department of Pathology
Military Medical Academy – Sofia, Bulgaria
2 Department
INTRODUCTION: Neurofibromatosis type I (Recklinghausen disease) is an autosomal
dominant disease, caused by a mutation of a gene on the long arm of chromosome 17, which
is associated with multiple cranial and peripheral nerve schwanomas and typical pigmented
spots on the skin. Nearly 2% of the patients with NF1 develop malignant peripheral nerve
sheath tumors (MPNST). The treatment of these tumors is a serious challenge from medical
and social point of view.
AIM: Our major goal is to propose an algorithm for multimodal treatment of these malignant
tumors which would prolong the progression-free period and provide a good quality of life.
MATERIAL AND METHODS: A 49 years old patient with NF1 was diagnosed with
malignant peripheral nerve sheath tumor of the left sciatic nerve. The treatment algorithm
included multidisciplinary management – preoperative embolisation of the tumor, gross total
resection, pre- and postoperative irradiation, and postoperative chemotherapy. An ankle
orthosis and active rehabilitation were used to aid recovery of the left leg’s function and
physical therapy was applied to relieve the pain. Close clinical and MRI follow-up was
conducted.
RESULTS: The tumor was totally excised along with a large portion of the sciatic nerve and
the proximal parts of the tibial and fibular nerves in order to achieve clear resection
boundaries. In the postoperative period the pain was relieved and the patient was able to walk
again in a short period of time. Follow-up MRI exams on the 3, 6, 12 and 18 months showed
no relapse of the disease, neither local metastases. Patient was back to his work and to his
normal style of life. Nevertheless after the postoperative irradiation, a disabling pain in the
left leg appeared which gradually increased to an amount that needed opioid analgesics to be
relieved.
CONCLUSION: Malignant peripheral nerve sheath tumors are rare soft tissue sarcomas.
They are considered to carry a poor prognosis with current therapeutic approaches.
Successful treatment depends on a multimodal approach.
KEY WORDS: neurofibromatosis type 1, MPNST, treatment algorithm.