Familial schwannomatosis with a germline mutation of SMARCB1 in Japan View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-07

AUTHORS

Katsunori Asai, Shoichi Tani, Yohei Mineharu, Yoshinori Tsurusaki, Yukihiro Imai, Yuji Agawa, Koichi Iwaki, Naomichi Matsumoto, Nobuyuki Sakai

ABSTRACT

Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. The disease is not well recognized in Asian countries and the role of germline SMARCB1 mutations requires investigation. A 35-year-old Japanese man complaining of headache underwent an MRI examination, which showed a cystic tumor at the left cerebellopontine angle. The tumor was surgically removed and diagnosed as vagus nerve schwannoma. He had a past medical history of multiple schwannomas of the neck, groin and intercostal nerves, which were also treated surgically. He had a family history of multiple schwannomas for his father and sister. Systemic examinations of these family members ruled out a diagnosis of NF1 or NF2, and thus schwannomatosis was suspected. Genetic analysis revealed a germline mutation (c. *82C > T) of SMARCB1, and a somatic mutation of NF2 without loss of heterozygosity at the chromosome 22 locus. This is the first report of familial schwannomatosis associated with a germline mutation of SMARCB1 in an Asian country. More... »

PAGES

216-220

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10014-015-0213-9

DOI

http://dx.doi.org/10.1007/s10014-015-0213-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035477249

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25631985


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40 schema:description Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. The disease is not well recognized in Asian countries and the role of germline SMARCB1 mutations requires investigation. A 35-year-old Japanese man complaining of headache underwent an MRI examination, which showed a cystic tumor at the left cerebellopontine angle. The tumor was surgically removed and diagnosed as vagus nerve schwannoma. He had a past medical history of multiple schwannomas of the neck, groin and intercostal nerves, which were also treated surgically. He had a family history of multiple schwannomas for his father and sister. Systemic examinations of these family members ruled out a diagnosis of NF1 or NF2, and thus schwannomatosis was suspected. Genetic analysis revealed a germline mutation (c. *82C > T) of SMARCB1, and a somatic mutation of NF2 without loss of heterozygosity at the chromosome 22 locus. This is the first report of familial schwannomatosis associated with a germline mutation of SMARCB1 in an Asian country.
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