N. Pandis et al., CHROMOSOME ANALYSIS OF UTERINE ADENOMYOSIS - DETECTION OF THE LEIOMYOMA-ASSOCIATED DEL(7Q) IN 3 CASES, Cancer genetics and cytogenetics, 80(2), 1995, pp. 118-120
Adenomyosis is a uterine disease whose defining characteristic is the
presence deep in the myometrium of endometrial glands and stroma, The
condition is believed to arise from inordinate down-ward growth by con
tiguity from the endometrium rather than from in situ metaplasia or ne
oplasia. No acquired chromosome abnormalities have been associated wit
h adenomyosis before. We analyzed shortterm cultures from three cases
and detected in all of them a del(7) (q21.2q31.2), a karyotypic anomal
y that has hitherto been found repeatedly only in uterine leiomyomas.
The cytogenetic similarity to leiomyoma suggests that the del(7q) was
present in the mesenchymal or, more precisely, smooth muscle cells of
the adenomyosis lesions. The very fact that clonal chromosome abnormal
ities were present questions whether the prevailing understanding of a
denomyosis pathogenesis is adequate; the cytogenetic data would better
fit a model of the disease envisioning the intramyometrial endometria
l foci as having arisen through a neoplastic process.