[Extracerebral neoplastic manifestations in neurofibromatosis 1: integrated diagnostic imaging].

OBJECTIVE

To analyze the extracerebral manifestations of type 1 neurofibromatosis (NF-1), with special reference to peripheral nerve tumors.

METHODS

The findings of 376 NF-1 patients (194 men and 182 women; age range: 0.1-48 years, mean: 8.1) were retrospectively reviewed. The patients had been submitted to abdominopelvic and superficial US and, in case of abnormal US findings or in the presence of symptoms, to CT and/or MRI. In addition, we considered 5 more patients (2 men and 3 women; age range: 50-72 years, mean: 64.4) with incomplete forms of NF-1 diagnosed after the finding of nerve sheath tumors. Biopsy (12 cases), surgery (10 cases), or clinical-instrumental follow-up were the study criteria.

RESULTS

In the first group of patients we identified 91 cutaneous, 222 subcutaneous, 11 pendulous and 25 internal neurofibromas. Plexiform neurofibromas were found in the neck (1 case), chest (6 cases), abdomen (16), pelvis (8). We also found 1 benign and 1 malignant Schwannomas, 2 nerve sheath fibrosarcomas, 1 dopamine-producing sympatoma and 1 spermacytoma. As for the second group of patients, we had 2 Schwannomas, 1 pulmonary neurofibroma, and 2 multiple plexiform neurofibromas. The neurofibromas exhibited homogeneous US hypoechogenicity or slight echogenicity, with little contrast enhancement at CT. MR showed peripheral hyperintensity and central hypointensity on T2-weighted sequences and marked contrast enhancement after gadolinium, sometimes with mostly central uptake. The plexiform neurofibromas, which are typical of NF-1, had poorly-defined or infiltrating margins, with similar findings to the previous ones but sometimes with less homogeneous patterns at both US and CT. The Schwannomas, which are a less common finding in NF-1, exhibited different features at MRI and CT, namely pseudo-liquid or solid-inhomogeneous patterns with irregular and inhomogeneous contrast enhancement relative to the Antoni A/B tumor component. In the malignant lesions we observed infiltrating patterns, with irregular and inhomogeneous contrast enhancement, arranged asymmetrically relative to the contralateral lesion.

CONCLUSIONS

Extra-axial neoplasms are a frequent finding in NF-1. Despite the extremely variable appearances of some lesions (particularly Schwannomas), the typical plexiform neurofibroma exhibits characteristic patterns. The diagnosis of malignancy often requires bioptic confirmation.