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

2012; Thieme Medical Publishers (Germany); Volume: 73; Issue: 02 Linguagem: Inglês

10.1055/s-0032-1301394

2193-6331

Salvatore Di Maio, Goran Mrak, Gordana Juric‐Sekhar, Donald E. Born, Alessandra Madia Mantovani, Laligam N. Sekhar,

Neuroblastoma Research and Treatments

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.