Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

被引：71

作者：

Bacci, Costanza ^{[1
]}

Sestini, Roberta ^{[1
,4
]}

Provenzano, Aldesia ^{[1
]}

Paganini, Irene ^{[1
]}

Mancini, Irene ^{[1
]}

Porfirio, Berardino ^{[1
]}

Vivarelli, Rossella ^{[2
]}

Genuardi, Maurizio ^{[1
,3
]}

Papi, Laura ^{[1
]}

机构：

[1] Univ Florence, Med Genet Unit, Dept Clin Physiopathol, Florence, Italy

[2] Univ Siena, Dipartimento Pediat Ostet & Med Riproduz, I-53100 Siena, Italy

[3] Fiorgen Fdn Pharmacogenom, Sesto Fiorentino, Italy

[4] Dipartimento Fisiopatol Clin, Sez Genet Med, I-50139 Florence, Italy

来源：

NEUROGENETICS | 2010年 / 11卷 / 01期

关键词：

Schwannomatosis; Multiple meningiomas; SMARCB1; mutation; MALIGNANT RHABDOID TUMOR; CENTRAL-NERVOUS-SYSTEM; NEUROFIBROMATOSIS; TYPE-2; PREDISPOSITION SYNDROME; MOLECULAR ANALYSIS; GERMLINE MUTATION; SUPPRESSOR GENE; HSNF5/INI1; GENE; INI1; MUTATION;

D O I：

10.1007/s10048-009-0204-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Schwannomatosis (MIM 162091) is a condition predisposing to the development of central and peripheral schwannomas; most cases are sporadic without a clear family history but a few families with a clear autosomal dominant pattern of transmission have been described. Germline mutations in SMARCB1 are associated with schwannomatosis. We report a family with multiple schwannomas and meningiomas. A SMARCB1 germline mutation in exon 1 was identified. The mutation, c.92A > T (p.Glu31Val), occurs in a highly conserved amino acid in the SMARCB1 protein. In addition, in silico analysis demonstrated that the mutation disrupts the donor consensus sequence of exon 1. RNA studies verified the absence of mRNA transcribed by the mutant allele. This is the first report of a SMARCB1 germline mutation in a family with schwannomatosis characterized by the development of multiple meningiomas.

引用

页码：73 / 80

页数：8

共 37 条

[1]

Biegel JA, 2002, CLIN CANCER RES, V8, P3461

[2]

Biegel JA, 1999, CANCER RES, V59, P74

[3] Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis [J].

Boyd, C. ;

Smith, M. J. ;

Kluwe, L. ;

Balogh, A. ;

MacCollin, M. ;

Plotkin, S. R. .

CLINICAL GENETICS, 2008, 74 (04) :358-366

[4] Multiple meningiomas:: differential involvement of the NF2 gene in children and adults [J].

Evans, DGR ;

Watson, C ;

King, A ;

Wallace, AJ ;

Baser, ME .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (01) :45-48

[5] Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: A clinical and molecular study [J].

Evans, DGR ;

Mason, S ;

Huson, SM ;

Ponder, M ;

Harding, AE ;

Strachan, T .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1997, 62 (04) :361-366

[6]

EVANS DGR, 1992, Q J MED, V84, P603

[7] Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins -: Pathologic and molecular diagnosis [J].

Fernandez, C ;

Bouvier, C ;

Sévenet, N ;

Liprandi, A ;

Coze, C ;

Lena, G ;

Figarella-Branger, D .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2002, 26 (02) :266-270

[8] Molecular analysis of the rhabdoid predisposition syndrome in a child:: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification [J].

Fujisawa, H ;

Takabatake, Y ;

Fukusato, T ;

Tachibana, O ;

Tsuchiya, Y ;

Yamashita, J .

JOURNAL OF NEURO-ONCOLOGY, 2003, 63 (03) :257-262

[9] The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 [J].

Gutmann, DH ;

Aylsworth, A ;

Carey, JC ;

Korf, B ;

Marks, J ;

Pyeritz, RE ;

Rubenstein, A ;

Viskochil, D .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1997, 278 (01) :51-57

[10] Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis [J].

Hadfield, K. D. ;

Newman, W. G. ;

Bowers, N. L. ;

Wallace, A. ;

Bolger, C. ;

Colley, A. ;

McCann, E. ;

Trump, D. ;

Prescott, T. ;

Evans, D. G. R. .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (06) :332-339

← 1 2 3 4 →