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GASTRIC SCHWANNOMA WITH ADJACENT EXTERNAL PROGRESSION HARBORED ABERRANT NF2 GENE
Author(s) -
Ogasawara Naotaka,
Sasaki Makoto,
Ishiguro Hideyuki,
Itoh Yukimi,
Nojiri Syunsuke,
Kubota Eiji,
Wada Tsuneya,
Kataoka Hiromi,
Kuwabara Yoshiyuki,
Joh Takashi
Publication year - 2009
Publication title -
digestive endoscopy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.5
H-Index - 56
eISSN - 1443-1661
pISSN - 0915-5635
DOI - 10.1111/j.1443-1661.2009.00885.x
Subject(s) - medicine , neurofibromatosis , immunohistochemistry , pathology , schwannoma , cd34 , exon , neurofibromatosis type 2 , stromal cell , tumor suppressor gene , gene mutation , gist , mutation , cancer research , gene , carcinogenesis , cancer , biology , stem cell , genetics
Gastric schwannomas are rare benign mesenchymal tumors. We describe a schwannoma of gastric origin with adjacent external progression. Sections showed a spindle cell tumor arranged in interlaced bundles and fascicles that was S‐100 and CD34 positive but c‐KIT protein negative. Histology and immunohistochemistry revealed the typical appearance of a gastric schwannoma. Genetic evaluation revealed that the tumor harbored a point mutation in exon 6 of the tumor suppressor neurofibromatosis 2 ( NF2 ) gene, which resulted in an amino acid substitution of NF2 protein, and no mutation in exon 4b of the NF1 gene. In conclusion, we identified a rare mutation of the NF2 gene in gastric schwannoma. A diagnosis can only be definitive when based on histological and immunohistochemical findings. Digestive tract schwannomas are rare mesenchymal tumors that are differentiated from gastrointestinal stromal tumors by the absence of KIT protein. Follow up suggested that complete resection is an effective long‐term treatment strategy.