This study further defines the region of consistent deletion of chromo
some 7 in uterine leiomyomas. We have examined 74 leiomyomas for allel
ic loss of markers spanning the 7q22 region defined by markers D7S518
and D7S471. Forty tumors with cytogenetically defined 7q deletions, tw
enty-nine tumors without cytogenetically visible 7q deletions, and fiv
e tumors with no cytogenetic information were examined for allelic los
s of D7S518, D7S666, D7S515, D7S658, D7S496, D7S692, and D7S471. Loss
of heterozygosity for one or more of these loci was observed in twenty
-eight leiomyomas with cytogenetically defined 7q deletions and in thr
ee leiomyomas with a normal karyotype. Allelic loss of D7S666 was comm
on and was observed in all twenty-three informative tumors with 7q del
etions and in two tumors with normal karyotypes, This study indicates
the presence of a tumor suppressor gene in close proximity to the D7S6
66 locus. Eight tumors followed an unusual pattern of allelic loss. Th
ese tumors showed retention of heterozygosity for at least one locus f
lanked by deleted loci. These results suggest the possibility that two
discrete regions of deletion at 7q22 are involved in the development
of a subset of leiomyomas. (C) 1997 Wiley-Liss, Inc.