Peripheral blood mononuclear cells (PBMCs) and T-cell lines from patie
nts with Sezary syndrome (SS) and skin lesions from patients with myco
sis fungoides (MF) were examined by polymerase chain reaction (PCR) fo
r DNA sequences homologous to the human retroviruses human T-lymphotro
pic virus (HTLV)-I and -II. Results obtained using primers and probes
from the tax/rex region of HTLV-I indicate that 72% (18/25) of SS pati
ents PBMCs, 80% (20/25) of T-cell lines established from SS-PBMC, and
30% (3/10) of skin lesions from MF patients were positive for HTLV-I t
ax/rex region DNA. Sequence analysis of the 127-bp fragment amplified
by the tax/rex primers from 4 of these individuals was found to be ide
ntical to that in prototypic HTLV-I. Negative results were obtained us
ing primers and probes from the HTLV-I gag region and the HTLV-II gag
and tax regions. No PCR products were obtained using all primers and p
robes using DNA from 9 healthy blood donors and 10 cord bloods. Expres
sion of HTLV-I tax/rex mRNA was found in 4 of 8 Sezary patients, as de
termined by RNA-PCR, indicating that this viral region is being transc
ribed in vivo. Exposure to Tax/Rex protein in SS-patients is supported
by the fact that serum antibodies against p27(rex) and p40(tax) was o
bserved in 43% and 29% of these SS patients, respectively. Although th
e causal relationship between the HTLV-I tax/rex region and cutaneous
T-cell lymphoma (CTCL) remains unclear, these findings support the pre
sence of a truncated HTLV-I retrovirus in CTCL patients. (C) 1994 by T
he American Society of Hematology.