Elevated Risk for MPNST in NF1 Microdeletion Patients

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...

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Bibliographic Details
Published in:American journal of human genetics 2003-05, Vol.72 (5), p.1288-1292
Main Authors: De Raedt, T., Brems, H., Wolkenstein, P., Vidaud, D., Pilotti, S., Perrone, F., Mautner, V., Frahm, S., Sciot, R., Legius, E.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Comorbidity
Humans
In Situ Hybridization, Fluorescence
Medical sciences
Middle Aged
Nerve Sheath Neoplasms - classification
Nerve Sheath Neoplasms - genetics
Neurofibromatosis 1 - genetics
Neurofibromin 1 - genetics
Neurology
Polymerase Chain Reaction
Risk
Risk Assessment
Sequence Deletion - genetics
Tumors of the nervous system. Phacomatoses
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/374821