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Abstract
<p class="first" id="d2464678e67">Neurofibromatosis type 1 (NF1) is a frequent neurocutaneous
syndrome that predisposes
for various benign and malignant tumors. Most characteristic are neurofibromas which
occur in almost all NF1 patients at some point in lifetime. Although neurofibromas
are benign tumors they can be disfiguring and plexiform neurofibromas may progress
to malignant peripheral nerve sheath tumors. Overall survival rates of patients with
these malignant tumors are poor. Other neoplasias frequently observed in NF1 patients
are pilocytic astrocytomas, gastrointestinal stromal tumors, pheochromocytomas and
juvenile myelomonocytic leukemia. Several other tumors have been reported in NF1 patients
but it is unclear if there is a true association between the particular tumor type
and NF1. Some of these tumors might be caused by a rare recessively inherited childhood
cancer syndrome termed constitutive mismatch repair deficiency syndrome which shows
certain phenotypic overlap with NF1 but includes a broad spectrum of tumors which
usually do not occur in NF1. The development of NF1-associated tumors is largely explained
by the underlying defect of the NF1 gene which results in activation of the RAS proto-oncogene-
a key mechanism of tumorigenesis. Several downstream effectors of activated RAS as
well as cooperating molecular pathways have been identified. These insights provide
the basis to develop novel targeted treatment strategies which are urgently needed
to improve the outcome for patients with NF1-associated malignancies.
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