PP47. MICROSATELITE INSTABILITY IN BULGARIAN ENDOMETRIAL CANCER PATIENTS
D.V.KONSTANTINOVA 1,4, T.T. Kadiyska 1, R.P.Kaneva 1, S.I.Ivanov 2, R.G.Dimitrov 3, K.P.Meinhardt 5, N.I.Doganov 3, V.I.Mitev 4, I. M.Kremensky 1 1. Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology "Maichin Dom", Sofia, Bulgaria 2. Clinic of Oncogynecology, National Centre of Oncology, Sofia, Bulgaria 3. Clinic of Operative Gynecology, University Hospital of Obstetrics and Gynecology "Maichin dom", Sofia, Bulgaria 4. Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria 5. Pathology Unit, University Hospital of Obstetrics and Gynecology "Maichin Dom", Sofia, Bulgaria e-mail: darivko@gmail.com
*Corresponding Author:
page: 68

Abstract

Purpose: Endometrial cancer (EC) is one of the commonnest gynecologic malignancies. The mean age to develop the disease is approximately 63 years, most of the cases being sporadic. However, a subset of women (5%) with EC display features suggestive of an underlying inherited susceptibility to cancer. EC is the second most common malignancy in the autosomal dominant cancer susceptibility syndrome hereditary non-polyposis colon cancer (HNPCC). HNPCC syndrome is associated with microsatellite instability (MSI) - a phenomenon caused by defects in the DNA mismatch repair leading to accumulation of replication errors. In this work we determined the frequency of MSI in 23 ECs from patients aging from 47 to 78 years. Methods: Six microsatellite DNA markers were resolved in an ALFExpress automatic sequencer. Results: Allelic instability was defined as presence in the tumor of an allele not seen in the normal tissue from the same individual. Cancers with MSI in at least two loci were classified as MSI-High, cancers with MSI at one locus - MSI-Low, all of the rest - as MS-Stable.We detected six tumours (26%) with MSI. MSI-High was seen in four specimens, MSI-Low in two. At least one LOH (loss of heterozygosity) event was observed in three of the cancers. LOH was not detected in tumors with MSI-L. Patients positive for MSI or LOH have been selected for further analyzes aimed to clarify the genetic basis of the disorder.



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