Elevated risk for MPNST in NF1 microdeletion patients

T. De Raedt, H. Brems, P. Wolkenstein, D. Vidaud, S. Pilotti, F. Perrone, V. Mautner, S. Frahm, R. Sciot, Eric Legius

Research output: Contribution to journalArticlepeer-review

Abstract

An NF1 microdeletion is the single most commonly reported mutation in individuals with neurofibromatosis type 1 (NF1). Individuals with an NF1 microdeletion have, as a group, more neurofibromas at a younger age than the group of all individuals with NF1. We report that NF1 microdeletion individuals additionally have a substantially higher lifetime risk for the development of malignant peripheral nerve sheath tumors than individuals with NF1 who do not have an NF1 microdeletion. This should be taken into account in the medical follow-up of individuals with an NF1 microdeletion.

Original languageEnglish
Pages (from-to)1288-1292
Number of pages5
JournalAmerican Journal of Human Genetics
Volume72
Issue number5
DOIs
Publication statusPublished - May 1 2003

ASJC Scopus subject areas

  • Genetics

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