ABSENCE OF MUTATION AT THE GAP-RELATED DOMAIN OF THE NEUROFIBROMATOSIS TYPE-1 GENE IN SPORADIC NEUROFIBROSARCOMAS AND OTHER BONE AND SOFT-TISSUE SARCOMAS
L. Gomez et al., ABSENCE OF MUTATION AT THE GAP-RELATED DOMAIN OF THE NEUROFIBROMATOSIS TYPE-1 GENE IN SPORADIC NEUROFIBROSARCOMAS AND OTHER BONE AND SOFT-TISSUE SARCOMAS, Cancer genetics and cytogenetics, 81(2), 1995, pp. 173-174
The NF1 gene encodes neurofibromin, a GTPase-activating protein contai
ning a GAP-related domain (NF1-GRD) that is capable of downregulating
ras by stimulating ras intrinsic GTPase activity. We tested 44 sarcoma
s, nine of which corresponded to sporadic neurofibrosarcomas, for muta
tions at the NF1-GRD by the polymerase chain reaction-single strand co
nformation polymorphism (PCR-SSCP) technique, finding no mutation in e
very sample tested. We suggest that inactivation of the NF1-GRD by gen
e mutation seems not to be an important event in the tumorigenesis of
sarcomas.