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Microsatellite instability in uterine sarcomas.

F Amant1, C M Dorfling, L Dreyer

  • 1Department of Obstetrics and Gynaecology, Pretoria Academic Hospital, Pretoria, South Africa. Frederic.Amant@uz.kuleuven.ac.be

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
|July 5, 2001
PubMed
Summary

Microsatellite instability is rare in uterine sarcomas, with only 5% of carcinosarcomas showing it. Loss of heterozygosity on chromosome 11 was observed in 17% of uterine sarcomas, suggesting tumor suppressor genes

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Area of Science:

  • Gynecologic Oncology
  • Cancer Genetics

Background:

  • Microsatellite instability (MSI) occurs in 15-30% of endometrial cancers.
  • The frequency of MSI and loss of heterozygosity (LOH) in uterine sarcomas is not well-established.

Purpose of the Study:

  • To investigate the presence of microsatellite instability and loss of heterozygosity in uterine sarcomas.
  • To differentiate genetic alterations in various uterine sarcoma subtypes.

Main Methods:

  • Retrospective review of 69 uterine sarcoma cases from Kalafong and Pretoria Academic Hospitals.
  • Histological review and subtyping of sarcomas (leiomyosarcoma, carcinosarcoma, endometrial stromal sarcoma).
  • Genomic DNA analysis for MSI and LOH on chromosome 11 from tumor and normal myometrium samples.

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Main Results:

  • High-frequency MSI was absent in leiomyosarcoma, endometrial stromal sarcoma, and mitotically active leiomyomas.
  • MSI was observed in 1 (5%) carcinosarcoma.
  • LOH for chromosome 11 was present in 8/48 (17%) of uterine sarcomas, with similar rates in leiomyosarcomas (18%) and carcinosarcomas (19%).
  • No LOH was detected in endometrial stromal sarcoma or mitotically active leiomyomas.

Conclusions:

  • Tumor suppressor genes may be involved in the tumorigenesis of uterine mesenchymal cells.
  • Mismatch repair genes appear to contribute to endometrial cancer carcinogenesis, distinct from uterine sarcomas.