Elevated risk for MPNST in NF1 microdeletion patients.
case_control · Level III
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- Record sourced from PubMed, PMID 12660952.
- Also identified by PMC identifier 1180281.
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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.
Medical subject headings
- Nerve Sheath Neoplasms
- Neurofibromatosis 1
- Neurofibromin 1
- Sequence Deletion