Naslov
Clinicopathological assay of 15 tumor resections in a family with neurofibromatosis type

Autori
DiMaio, Salvatore ; Mrak, Goran ; Jurić-Sekhar, Gordana ; Born, Donald ; Mantovani, Alessandra ; Sekhar, Laligam

Izvornik
Journal of Neurological Surgery Part B-Skull Base (2193-6331) 73 (2012), 2; 90-103

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
NF2 associated tumors ; ethics ; meningioma ; neurofibromatosis type 2 ; quality of life ; vestibular schwannoma

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA