Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.

@article{Bottillo2009GermlineAS,
  title={Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.},
  author={Irene Bottillo and Terje C. Ahlquist and Helge R. Brekke and Stine Aske Danielsen and Else van den Berg and Fredrik Mertens and Ragnhild A. Lothe and Bruno Dallapiccola},
  journal={The Journal of pathology},
  year={2009},
  volume={217 5},
  pages={693-701}
}
Malignant peripheral nerve sheath tumours (MPNSTs) are a malignancy occurring with increased frequency in patients with neurofibromatosis type 1 (NF1). In contrast to the well-known spectrum of germline NF1 mutations, the information on somatic mutations in MPNSTs is limited. In this study, we screened NF1, KRAS, and BRAF in 47 MPNSTs from patients with (n = 25) and without (n = 22) NF1. In addition, DNA from peripheral blood and cutaneous neurofibroma biopsies from, respectively, 14/25 and 7… CONTINUE READING