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J Neurol Surg B Skull Base 2012; 73(02): 090-103
DOI: 10.1055/s-0032-1301394
Original Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Clinicopathologic Assay of 15 Tumor Resections in a Family with Neurofibromatosis Type 2

Salvatore Di Maio
1   Department of Neurological Surgery, University of Washington, Harborview Medical Center, Seattle, Washington
,
Goran Mrak
2   Department of Neurosurgery, Zagreb University Hospital Center, Zagreb, Croatia
,
Gordana Juric-Sekhar
3   Department of Pathology, University of Washington, Harborview Medical Center, Seattle, Washington
,
Donald Born
3   Department of Pathology, University of Washington, Harborview Medical Center, Seattle, Washington
,
Alessandra Mantovani
1   Department of Neurological Surgery, University of Washington, Harborview Medical Center, Seattle, Washington
,
Laligam N. Sekhar
1   Department of Neurological Surgery, University of Washington, Harborview Medical Center, Seattle, Washington
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Publikationsverlauf

06. Juni 2011

18. Oktober 2011

Publikationsdatum:
06. Februar 2012 (online)

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Abstract

The objective of this study is the management of multiple family members with multiple neurofibromatosis type 2 (NF2) related tumors of the skull base that can be challenging, on purely technical, decision-making, and ethical levels. These issues are addressed in this manuscript based on an experience treating an unique large family with NF2. A retrospective chart review was performed, reviewing clinical, radiological, surgical, and pathological data. A unique family of 17 siblings, whose father was the proband as a sporadic mutation is reported. Over a 4-month period, five of eight affected siblings underwent 12 procedures for resection of 15 different NF2-related tumors. This single family experience of NF2-related skull base tumors underscores the importance of preservation of function and quality of life as the major determinants of treatment success.

Keywords

neurofibromatosis type 2 - NF2 associated tumors - vestibular schwannoma - meningioma - quality of life - ethics
 

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