A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene (original) (raw)

Abstract

Schwannomas are tumors arising mainly at cranial and spinal nerves. Bilateral vestibular schwannoma is the hallmark of neurofibromatosis type 2 (NF2). The NF2 gene has been cloned and comprehensive analysis of its mutations in schwannomas shows that up to 60% of tumors carry inactivating mutations. Thus, the genetic mechanism behind the development of more than 40% of schwannomas without NF2 mutations is unknown. We have therefore studied tumor tissue from 50 human schwannomas by allelotyping and have found chromosome 22 deletions in over 80% of the cases. We detected 14 cases (27%) that revealed partial deletions of one copy of chromosome 22, i.e., terminal and/or interstitial deletions. We sequenced the NF2 gene in seven of these tumors and detected only one case with mutations. The deletion mapping of chromosome 22 in tumors with partial deletions indicates that several regions, in addition to the NF2 locus, harbor genes involved in schwannoma tumorigenesis. Our findings suggest that heterogeneity in the mechanisms leading to the development of schwannomas probably exists. These findings are in agreement with the recent analysis of schwannomas from familial and sporadic cases of schwannomatosis and point to a possible role of an additional gene, which, in cooperation with the NF2 tumor suppressor, causes schwannomas.

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Schwannomas

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Authors and Affiliations

  1. Department of Molecular Medicine, Karolinska Hospital, CMM building L8:00, S-171 76 Stockholm, Sweden e-mail: Jan.Dumanski@cmm.ki.se, Tel.: +46 8 5177 2229, Fax: +46 8 5177 3909, , , , , , SE
    Carl E. G. Bruder & J. P. Dumanski
  2. Department of Neurosurgery, Oto-rhino-laryngology and Hygiene and Oncology, Tokyo Medical and Dental University, Tokyo, Japan, , , , , , JP
    Koichi Ichimura, Kimiyoshi Hirakawa, Atsushi Komatsuzaki & Yasuhito Yuasa
  3. Department of Neurosurgery, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo, Japan, , , , , , JP
    Akira Tamura
  4. Department of Histopathology, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UK, , , , , , GB
    O. Tingby & V. Peter Collins

Authors

  1. Carl E. G. Bruder
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  2. Koichi Ichimura
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  3. O. Tingby
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  4. Kimiyoshi Hirakawa
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  5. Atsushi Komatsuzaki
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  6. Akira Tamura
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  7. Yasuhito Yuasa
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  8. V. Peter Collins
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  9. J. P. Dumanski
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Received: 12 November 1998 / Accepted: 1 March 1999

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Bruder, C., Ichimura, K., Tingby, O. et al. A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene.Hum Genet 104, 418–424 (1999). https://doi.org/10.1007/s004390050978

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