Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which is instead pathognomonic of neurofibromatosis type 2 (NF2). Recently, a schwannomatosis family with a germline mutation of the SMARCB1 gene on chromosome 22 has been described. We report on the molecular analysis of the SMARCB1 and NF2 genes in a series of 21 patients with schwannomatosis and in eight schwannomatosis,associated tumors from four different patients. A novel germline SMARCB1 mutation was found in one patient; inactivating somatic mutations of NF2, associated with loss of heterozygosity (LOH) of 22q, were found in two schwannomas of this patient. This is the second report of a germline SMARCB1 mutation in patients affected by schwannomatosis and the first report of SMARCB1 mutations associated with somatic NF2 mutations in schwannomatosis-associated tumors. The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis.

Sestini, R., Bacci, C., Provenzano, A., Genuardi, M., Papi, L., Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas, <<HUMAN MUTATION>>, 2008; 29 (2): 227-231. [doi:10.1002/humu.20679] [https://hdl.handle.net/10807/219834]

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

Genuardi, Maurizio;
2008

Abstract

Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which is instead pathognomonic of neurofibromatosis type 2 (NF2). Recently, a schwannomatosis family with a germline mutation of the SMARCB1 gene on chromosome 22 has been described. We report on the molecular analysis of the SMARCB1 and NF2 genes in a series of 21 patients with schwannomatosis and in eight schwannomatosis,associated tumors from four different patients. A novel germline SMARCB1 mutation was found in one patient; inactivating somatic mutations of NF2, associated with loss of heterozygosity (LOH) of 22q, were found in two schwannomas of this patient. This is the second report of a germline SMARCB1 mutation in patients affected by schwannomatosis and the first report of SMARCB1 mutations associated with somatic NF2 mutations in schwannomatosis-associated tumors. The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis.
2008
Inglese
Sestini, R., Bacci, C., Provenzano, A., Genuardi, M., Papi, L., Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas, <<HUMAN MUTATION>>, 2008; 29 (2): 227-231. [doi:10.1002/humu.20679] [https://hdl.handle.net/10807/219834]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/219834
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