Malignant peripheral nerve sheath tumors in children with neurofibromatosis type 1.

Apostolos Pourtsidis,Maria Varvoutsi,Maria Synodinou,Panagiota Giamarelou,Despina Bouhoutsou,Helen Kosmidis,Margarita Baka,Dimitrios Doganis

doi:10.1155/2014/843749

Abstract

Purpose. Malignant peripheral nerve sheath tumors (MPNSTs) are rare in children and account for approximately 5–10% of all soft tissue sarcomas in adults. MPNSTs may occur independently but individuals with neurofibromatosis type 1 (NF1) have a significantly increased risk. Our aim is to present patients with MPNST treated in our department. Cases and Results. In this report we present 4 cases of MPNSTs (3 females: 13, 12, and 13 years old and 1 male: 10 years old) arising in patients with NF1. All of them presented with an enlarging mass and pain at diagnosis. Tumor was located in the buttock, the spinal cord, the trunk, and the left leg proximal to the heel. Wide excision of the tumor and radiotherapy were applied to all and adjuvant chemotherapy was given to three of them after the disease was progressed. All four died 32, 18, 10, and 22 months after diagnosis with progressive disease locally and pulmonary metastases in two of them. Conclusions. In conclusion, MPNSTs arising in patients with NF1 are high grade sarcomas with short survival. Individuals with NF1 should be followed closely in order to identify early the development of MPNSTs. Aggressive surgery and complete excision significantly improves disease-free survival. The usefulness of radiation therapy in MPNSTs is not determined although all patients will receive radiation therapy at some stage of the disease. The role of chemotherapy is unclear.

Highlights

Malignant peripheral nerve sheath tumors (MPNSTs) are rare high grade sarcomas with a poor prognosis [1,2,3,4]. This group of tumors has been reported as malignant schwannoma, malignant neurilemmoma, neurogenic sarcoma, and neurofibrosarcoma whereas the term “malignant peripheral nerve sheath tumour” is currently preferable [2, 4]
We present 4 cases of MPNSTs in patients with neurofibromatosis type 1 (NF-1) who were diagnosed in a single pediatric oncology unit during the last 15 years
Patients with a microdeletion of the NF-1 locus have higher numbers of discrete dermal neurofibromas at earlier ages and might have a higher incidence of MPNSTs than the overall NF-1 population [12]. It is not clear whether the genetic alterations reported in MPNSTs are causally related to tumor genesis or malignant transformation

Summary

Introduction

Malignant peripheral nerve sheath tumors (MPNSTs) are rare high grade sarcomas with a poor prognosis [1,2,3,4]. This group of tumors has been reported as malignant schwannoma, malignant neurilemmoma, neurogenic sarcoma, and neurofibrosarcoma whereas the term “malignant peripheral nerve sheath tumour” is currently preferable [2, 4]. MPNSTs may occur independently or in association with neurofibromatosis type 1 (NF-1) [5]. These tumors are aggressive sarcomas of neuroectodermal differentiation and usually develop in deep soft tissue. We present 4 cases of MPNSTs in patients with NF-1 who were diagnosed in a single pediatric oncology unit during the last 15 years

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