Ten leiomyosarcomas (LMS) affecting the same patient over a period of 3 yea
rs were cytogenetically studied to detect nonrandom chromosomal changes wit
h a pathogenetic significance. All tumors, likely metastases of a previous
LMS presentation, were classified as small, including eight that developed
before chemotherapy; the diagnoses were based on standard immunohistochemis
try methods for smooth muscle tumors. Scoring of 613 metaphases revealed mo
nosomy of chromosome 22 in six LMS, monosomy of chromosome 19 in three, and
deletion of chromosome 19p in all ten. Interphase fluorescence in situ hyb
ridization (FISH) of the 22-alphoid-specific probe allowed loss of the targ
et chromosome to be detected in four tumors at higher frequencies than thos
e detected by cytogenetics. Double-color FISH of the 19p- and 19q-specific
YAC performed on one tumor made it possible to distinguish the monosomic an
d 19p deleted cells, the relative frequencies of which were found to be 10%
and 20%, respectively. The deletion breakpoint could be mapped at 19p13 be
tween YAC 957d12 and YAC 947g4. The recurrence of the 19p deletion in a sub
set of tumor cells from all of the analyzed LIMS suggests that this structu
ral aberration is a significant change in the development of leiomyosarcoma
s. (C) 2000 Elsevier Science Inc. All rights reserved.