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J Med Genet. 2015 Aug;52(8):557-62. doi: 10.1136/jmedgenet-2015-103050. Epub 2015 Jun 23.

Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2.

Author information

1
Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK Centre for Imaging Sciences, Institute of Population Health, University of Manchester, Manchester, UK Children's Brain Tumour Research Network, Royal Manchester Children's Hospital, Manchester, UK.
2
Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
3
National Drug Evidence Centre (NDEC), Centre for Epidemiology, Institute of Population Health, University of Manchester, Manchester, UK.
4
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
5
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
6
Radiotherapy Related Research, The Christie NHS Foundation Trust, Manchester, UK.
7
Centre for Paediatric, Teenage and Young Adult Cancer, Institute of Cancer Sciences, University of Manchester, Manchester, UK.
8
Department of Otolaryngology, Manchester Royal Infirmary, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
9
Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
10
Children's Brain Tumour Research Network, Royal Manchester Children's Hospital, Manchester, UK.
11
Children's Brain Tumour Research Network, Royal Manchester Children's Hospital, Manchester, UK Department of Paediatric Neurosurgery, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
12
Department of Neuroradiology, Salford NHS Foundation Trust Hospital, Salford, Greater Manchester, UK.
13
Department of Neurosurgery, Salford Royal Hospital, Salford, Greater Manchester, UK.
14
Department of Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Abstract

BACKGROUND:

Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with a phenotype which includes bilateral vestibular (eighth cranial nerve) schwannomas. Conventional thinking suggests that these tumours originate at a single point along the superior division of the eighth nerve.

METHODS:

High resolution MRI was performed in children genetically proven to have NF2. The superior vestibular nerve (SVN) and inferior vestibular nerve (IVN) were visualised along their course with points of tumour origin calculated as a percentage relative to the length of the nerve.

RESULTS:

Out of 41 patients assessed, 7 patients had no identifiable eighth cranial nerve disease. In 16 patients there was complete filling of the internal auditory meatus by a tumour mass such that its specific neural origin could not be determined. In the remaining 18 cases, 86 discrete separate foci of tumour origin on the SVN or IVN could be identified including 23 tumours on the right SVN, 26 tumours on the right IVN, 18 tumours on the left SVN and 19 tumours on the left IVN.

DISCUSSION:

This study, examining the origins of vestibular schwannomas in NF2, refutes their origin as being from a single site on the transition zone of the superior division of the vestibular nerve. We hypothesise a relationship between the number of tumour foci, tumour biology and aggressiveness of disease. The development of targeted drug therapies in addition to bevacizumab are therefore essential to improve prognosis and quality of life in patients with NF2 given the shortcomings of surgery and radiation treatments when dealing with the multifocality of the disease.

KEYWORDS:

Cancer: CNS; Cancer: head and neck; Clinical genetics; Diagnostics; Neurology

PMID:
26104281
PMCID:
PMC4518745
DOI:
10.1136/jmedgenet-2015-103050
[Indexed for MEDLINE]
Free PMC Article

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