Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in
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ANNUAL ISSUE PAPER
Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children Natalie Winter 1 & Maike F. Dohrn 2 & Julia Wittlinger 1 & Alexander Loizides 3 & Hannes Gruber 3 & Alexander Grimm 1 Received: 21 May 2020 / Accepted: 28 May 2020 # The Author(s) 2020
Abstract Purpose Peripheral nerve sheath tumors are hallmark findings in neurofibromatosis types 1 and 2. With increasing size, they typically lead to neurological symptoms, and NF1 patients have a lifetime risk of 8–13% for developing malignant peripheral nerve sheath tumors. Medical imaging is therefore highly needed for early detection and exact localization of symptomatic or potentially malignant tumors. This review will give an overview of the ultrasound characteristics of peripheral nerve sheath tumors and findings in patients with neurofibromatosis types 1 and 2. Methods A systematic search of electronic databases, reference lists, and unpublished literature was conducted including the keywords “schwannoma,” “neurofibroma,” “neurofibromatosis,” “benign and malignant peripheral nerve sheath tumor.” Results The high-resolution allows a clear analysis of tumor echotexture, definition of margins, and the relation to the parent nerve. The use of color duplex/Doppler and contrast agent adds valuable information for the differentiation of benign and malignant tumors. Conclusion High-resolution ultrasound is a well-established, non-invasive, and easily repeatable first-line tool in diagnostic procedures of soft tissue tumors. Keywords High resolution nerve ultrasound . Neurofibroma . Schwannoma . Neurofibromatosis
Introduction Neurofibromatosis (NF) types 1 and 2 belong to a heterogeneous group of hereditary phacomatosis syndromes that lead to tumor formation in both the central and peripheral nervous systems with an autosomal dominant mode of inheritance. Both types are rare diseases with different prevalence (NF1 1, 2500–3000; NF2 1, 35,000) and sporadic occurrence in up to 50% [18, 19, 21, 23].
* Alexander Grimm [email protected] 1
Department of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany
2
University Hospital of the RWTH Aachen University, Aachen, Germany
3
Department of Radiology, University of Innsbruck, Innsbruck, Austria
With regard to manifestations of the peripheral nervous system, the defining feature of neurofibromatosis type 1 is peripheral nerve sheath tumors, typically neurofibromas and malignant peripheral nerve sheath tumors (MPNST) [11]. MPNST develop in 1–2% of NF1 patients [5, 12], often arising from plexiform neurofibromas [2]. The clinical presentation and ultrasound findings in NF1 have a wide variability. While several clinical signs of NF1 are already present at birth, others develop over time. In particular, neurofibromas occur and grow with aging [11, 21]. NF2 patients more frequently develop schwannomas and have a lifetime risk of up to 66% for axo
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