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Journal of Histochemistry and Cytochemistry, Vol. 47, 1471-1480, November 1999, Copyright © 1999, The Histochemical Society, Inc.

ARTICLE

Expression of the Neurofibromatosis Type 2 Gene in Human Tissues

Michael A. den Bakkera, Kees J. Vissersa, Anco C. Molijna, Johan M. Krosa, Ellen C. Zwarthoffa, and Theo H. van der Kwasta
a Department of Pathology, Josephine Nefkens Institute, Rotterdam, The Netherlands

Correspondence to: Michael A. den Bakker, Dept. of Pathology, Josephine Nefkens Inst., POB 1738, 3000 DR Rotterdam, The Netherlands.

The neurofibromatosis Type 2 tumor suppressor gene is implicated in the hereditary tumor syndrome NF2, hallmarked by bilateral vestibular schwannomas, meningiomas, and ocular non-neoplastic features. The gene product has characteristics of a membrane cytoskeleton-linking protein but the mechanism of tumor suppression by the NF2 protein remains to be elucidated. The NF2 gene is widely expressed in mouse and rat tissues. In humans, most of the expression data have accumulated through Northern blot analysis, RT-PCR and, more recently, Western blot analysis, providing information on whole tissues and organs rather than on specific cell types. We report here an extensive survey of NF2 gene expression in human tissues using a combination of mRNA in situ hybridization (mRNA ISH) and immunohistochemistry (IH) with a panel of monoclonal antibodies (MAbs) supplemented by tissue immunoprecipitation experiments with affinity-purified polyclonal antibodies. Expression was observed in many different cell types, most of which appear functionally normal in individuals affected by NF2. Surprisingly, expression could not be consistently documented in Schwann cells and arachnoidal cells by IH or by mRNA ISH in formalin-fixed tissue. However, consistent immunostaining of Schwann cells was seen in frozen sections. (J Histochem Cytochem 47:1471–1479, 1999)

Key Words: neurofibromatosis type 2, gene expression, in situ hybridization, immunohistochemistry, immunoprecipitation


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