Activation of telomerase is a crucial step during cellular immortalization
and malignant transformation of human cells and requires the induction of t
he catalytic component, human telomerase reverse transcriptase (hTERT), enc
oded by the hTERT gene. It is poorly understood how the hTERT gene is activ
ated in human cancer cells. In the present study, we examined the hTERT gen
e copy number in human ranter cell lints and in primary tumor tissues. Ampl
ification of the hTERT gene was observed in 8 of 26 (31%) tumor cell lines
and 17 of 58 (30%) primary tumors examined (8 of 21 lung tumors, 3 of 10 ce
rvical tumors, 5 of 19 breast carcinomas, and 1 of 8 neuroblastomas), In ad
dition, 13 of 26 (50%) cell lines and 13 of 58 (22%) primary tumors display
ed gain of hTERT gene copies with 3-4 copies/cell. The present findings imp
ly that the hTERT Locus may be a frequent target for amplification during t
umorigenesis and that this genetic event probably contributes to the dysreg
ulation of telomerase activity occurring in human tumors.