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Clinicopathologic Assay of 15 Tumor Resections in a Family with Neurofibromatosis Type 2 JOURNAL OF NEUROLOGICAL SURGERY PART B-SKULL BASE Di Maio, S., Mrak, G., Juric-Sekhar, G., Born, D., Mantovani, A., Sekhar, L. N. 2012; 73 (2): 90-103

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.

View details for DOI 10.1055/s-0032-1301394

View details for Web of Science ID 000321267800002

View details for PubMedID 23543817

View details for PubMedCentralID PMC3424622