Human Molecular Genetics, Vol 5, 15-21, Copyright © 1996 by Oxford University Press
FG Barr, LE Nauta, RJ Davis, BW Schafer, LM Nycum and JA Biegel
In the pediatric cancer alveolar rhabdomyosarcoma, characteristic
t(2;13)(q35;q14) or variant t(1;13)(p36;q14) chromosomal translocations
generate PAX3-FKHR or PAX7-FKHR fusion genes. Using fluorescence in situ
hybridization, reverse transcriptase-polymerase chain reaction and
quantitative Southern blot analyses, we demonstrate that these fusion genes
are amplified in 20% of fusion-positive tumors. In particular, we found in
vivo amplification of these fusions in one of 22 PAX3-FKHR- positive cases
and five of seven PAX7-FKHR-positive cases. These findings indicate that
translocation and amplification can occur sequentially in a cancer to alter
both the structure and copy number of a gene and thereby activate oncogenic
activity by complementary mechanisms.
ARTICLES
In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma
Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.
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