Molecular and cytogenetic analysis of chromosome 7 in uterine leiomyoma
- Univ. of Pittsburgh, PA (United States); and others
Uterine leiomyomas are benign tumors which arise clonally from smooth muscle cells of the myometrium. Cytogenetic studies of uterine leiomyomas revealed that about 50% have chromosome abnormalities and that deletion 7q is a common finding. This observation suggest the possible location of a growth suppressor gene within the 7q21-q22 region. Molecular genetic analysis of cytogenetically normal tumors has frequently revealed somatic loss of specific tumor suppressor genes detected by loss of heterozygosity in the critical region (RB1 in retinoblastoma and WT1 in Wilms tumor). To test the hypothesis that chromosome region 7q21-q22 contains a growth suppressor gene involved in the development of leiomyomas, we tested 67 leiomyomas for allelic loss of 7q markers spanning the cytogenetically defined critical region. Nineteen tumors with cytogenetically defined 7q deletion and 48 tumors without cytogenetically visible 7q deletion were examined for allelic loss of loci D7S487, D7S440, D7S492, D7S518, D7S471, D7S466 and D7S530. Loss of heterozygosity for one or more of these loci was observed in 14/19 (73.7%) of tumors with deletion 7q and no evidence of allelic loss was observed in tumors without cytogenetic deletion. The tumors with deletion 7q but no loss of 7q21-q22 markers were tumors which were mosaics with only a minority of cells showing chromosome 7q deletion. The critical region of loss is defined by markers D7S518 and D7S471, each showing loss in 56% of informative cases. These markers define a 10cM region of 7q21.2-q22 consistent with the cytogenetically defined smallest region of overlap. These markers exclude loss of the MET oncogene locus and WNT1, the murine mammary tumor virus integration site, from the critical region. These results define a region that is consistently lost in leiomyomas with abnormalities in chromosome 7q and may define the location of a gene involved in the development of a subset of leiomyomas.
- OSTI ID:
- 133521
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0249
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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