Chapter 6. Neurofibromatosis

  1. Prof. Dr. Heike Allgayer PhD4,
  2. Prof. Dr. Helga Rehder5 and
  3. Prof. Dr. Simone Fulda6
  1. Katharina Wimmer1,
  2. Hildegard Kehrer-Sawatzki2 and
  3. Eric Legius3

Published Online: 21 AUG 2009

DOI: 10.1002/9783527627523.ch6

Hereditary Tumors: From Genes to Clinical Consequences

Hereditary Tumors: From Genes to Clinical Consequences

How to Cite

Wimmer, K., Kehrer-Sawatzki, H. and Legius, E. (2008) Neurofibromatosis, in Hereditary Tumors: From Genes to Clinical Consequences (eds H. Allgayer, H. Rehder and S. Fulda), Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany. doi: 10.1002/9783527627523.ch6

Editor Information

  1. 4

    University of Heidelberg and DKFZ (German Cancer Research Center) Heidelberg, Medical Faculty Mannheim, Chair of Experimental Surgery, Theodor-Kutzer-Ufer 1–3, 68167 Mannheim, Germany

  2. 5

    Medical University Vienna, Department of Medical Genetics, Währinger Strasse 10, 1090 Wien, Austria

  3. 6

    Ulm University Children's Hospital, Eythstrasse 24, 89075 Ulm, Germany

Author Information

  1. 1

    Medical University Vienna, Department of Medical Genetics, Währinger Straße 10, 1090 Vienna, Austria

  2. 2

    University of Ulm, Institute of Human Genetics, Albert-Einstein-Allee 11, 89081 Ulm, Germany

  3. 3

    Catholic University of Leuven, Centre for Human Genetics, Herestraat 49, 3000 Leuven, Belgium

Publication History

  1. Published Online: 21 AUG 2009
  2. Published Print: 17 DEC 2008

ISBN Information

Print ISBN: 9783527320288

Online ISBN: 9783527627523



  • central nervous system;
  • genetic testing;
  • mosaicism;
  • neurofibroma;
  • NF1;
  • NF2


The first scientific monograph on neurofibromatosis type 1 (NF1) was published 1882 by Friedrich Daniel von Recklinghausen, who coined the term “neurofibroma” for the benign peripheral nerve sheath tumors that are typical for NF1. The leading feature of neurofibromatosis type 2 (NF2) are schwannomas of the vestibular nerve. The diagnostic criteria for NF1 and NF2 were formulated in 1987 by the National Institutes of Health (NIH) Consensus Development Conference Statement, and are still valid and widely used. Both disorders are caused by inactivating mutations in the respective genes and have an autosomal dominant pattern of inheritance. Recently, a third form of neurofibromatosis termed schwannomatosis has been described which is also, albeit rarely, inherited in an autosomal dominant fashion. Germline mutations in the tumor suppressor INI1/SMARCB1 may be responsible for some cases of familial schwannomatosis. In this chapter we summarize the current knowledge about clinical and genetic diagnosis, the molecular patho-mechanisms, and the clinical, in particular tumor manifestations of the three conditions.