T. Kumabe et al., OVEREXPRESSION AND AMPLIFICATION OF ALPHA-PDGF RECEPTOR GENE LACKING EXONS CODING FOR A PORTION OF THE EXTRACELLULAR REGION IN A MALIGNANT GLIOMA, Tohoku Journal of Experimental Medicine, 168(2), 1992, pp. 265-269
Overexpression of the alpha-Platelet Derived Growth Factor Receptor (a
lpha-PDGF) gene was detected in a case of malignant glioma. This overe
xpression was accompanied with amplification of rearranged alpha-PDGF
receptor gene. We have isolated a cDNA for the transcript derived from
the amplified receptor gene. Characterization of the cDNA revealed a
deletion of 243 nucleotides coding for 81 amino acids in the extracell
ular region of the receptor. This in-frame deletion removed a part of
the immunoglobulin-like domains in the extra.cellular region of the re
ceptor. Analysis of the amplified alpha-PDGF receptor gene in the glio
ma indicated that exons coding for the 81 amino acids were lost by a g
ene deletion. The gene amplification was also detected in macroscopica
lly normal cortex adjacent to the glioma from the same patient. Howeve
r, the amplified gene in the macroscopically normal cortex had no majo
r gene rearrangement. These data suggest that the overproduction of st
ructurally altered alpha-PDGF receptor may take part in the onset and
the development of malignant glioma.