The incidence of human esophageal squamous cell carcinoma in males is well-
known to be higher than in females and its biological action in male patien
ts is generally much more aggressive than that of the female. Recently aber
rations and/or other abnormalities of the sex chromosomes, especially the Y
chromosome have been postulated to be involved in some of the differences
in the incidence and/or biological action of human malignancies between mal
e and female patients. Therefore in this study, we examined abnormalities o
f the sex chromosomes in cell smears obtained from 30 male patients diagnos
ed with esophageal squamous cell carcinoma. In addition, TE series cell lin
es, derived from esophageal squamous cell carcinomas, were studied for sex
chromosome abnormalities by utilizing a simultaneous double color fluoresce
nt in situ hybridization (FISH) and these findings were correlated with,var
ious clinicopathological parameters in order to examine its likely biologic
al significance. In esophageal squamous cell carcinoma, Y chromosome loss w
as detected in all cases studied (1.6-86.9%, mean 22.98 +/- 22.04%), but th
e loss of the X chromosome was encountered in only 6 of the cases (7.1-40.6
%, mean 15.90 +/- 12.46%). There was no significant association between the
rate of Y chromosome loss in carcinoma cells and any of the clinicopatholo
gical parameters examined including age and stage of the cancer: Lass of th
e Y chromosome was observed in only two cases of adjacent non-pathological
esophageal squamous cell epithelium. Among the TE series examined, the cell
lines derived from male patients demonstrated loss of the Y chromosome in
all cell lines (1.4-92.9%, mean 44.92 +/- 42.55%), but the great majority o
f cell lines derived fr om female patients were associated with the karyoty
pe of XX. These results indicated that the loss of the Y chromosome is asso
ciated with the malignant phenotype in human esophageal squamous epithelium
, brit possibly not with biological behavior. These results also suggested
that at least one X chromosome is indispensable for the survival of esophag
eal squamous cell carcinoma.