1Division of Neuroscience, Children's Hospital, Boston, Massachusetts 02115, 2Department
of Neurology, Harvard Medical School, Boston, Massachusetts 02115, 3Section of …

Although neurofibromatosis 1 (NF1) is a common Mendelian disorder with autosomal-
dominant inheritance, its expression is highly variable and unpredictable. Many NF1 …

To define alterations early in tumor formation, we studied nerve tumors in neurofibromatosis
1 (NF1), a tumor predisposition syndrome. Affected individuals develop neurofibromas …

Somatic gene mutations constitute key events in the malignant transformation of human
cells. Somatic mutation can either actively speed up the growth of tumour cells or relax the …

Understanding the biological pathways critical for common neurofibromatosis type 1 (NF1)
peripheral nerve tumours is essential, as there is a lack of tumour biomarkers, prognostic …

Plexiform neurofibromas are benign nerve sheath Schwann cell tumors characterized by
biallelic mutations in the neurofibromatosis type 1 (NF1) tumor suppressor gene. Atypical …

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 …

Biallelic inactivation of the NF2 gene occurs in the majority of schwannomas. This usually
involves a combination of a point mutation or multiexon deletion, in conjunction with either a …

METHODS The constitutional NF1 gene mutations were identified in one laboratory using a
battery of different mutation detection techniques: single strand conformational …

Summary Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused
by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign …