The INI1/SMARCB1 gene protein product has been implicated in the direct pathogenesis of schwannomas from patients with one form of schwannomatosis [SWNTS1; MIM # 162091] showing a mosaic pattern of loss of protein expression by immunohistochemistry [93% in familial vs. 55% in sporadic cases].
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas / Caltabiano, R., Magro, G., Polizzi, A., Praticò, A.D., Ortensi, A., D'Orazi, V., Panunzi, A., Milone, P., Maiolino, L., Nicita, F., Capone, G.L., Sestini, R., Paganini, I., Muglia, M., Cavallaro, S., Lanzafame, S., Papi, L., Ruggieri, M.. - In: CHILDS NERVOUS SYSTEM. - ISSN 0256-7040. - ELETTRONICO. - (2017). [10.1007/s00381-017-3340-2]
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas
D'ORAZI, VALERIO;NICITA, Francesco;
2017
Abstract
The INI1/SMARCB1 gene protein product has been implicated in the direct pathogenesis of schwannomas from patients with one form of schwannomatosis [SWNTS1; MIM # 162091] showing a mosaic pattern of loss of protein expression by immunohistochemistry [93% in familial vs. 55% in sporadic cases].| File | Dimensione | Formato | |
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