Detection of genetic abnormalities in neoplasms from Greek patients with FAP.
OBJECTIVE
DNA microsatellite instability is a well-known feature of hereditary non-polyposis colon cancer; however, its incidence in familial adenomatous polyposis, is unclear. We report the frequency of microsatellite instability and other genetic abnormalities in a group of Greek patients with FAP, in relation to various clinicopathological variables.


METHODS
Thirty-four tissue specimens from 10 patients with FAP were studied. Microsatellite instability was investigated at six loci: BAT25, BAT26, D2S123, D5S346, D17S250 and TGF-beta RII poly(A) tract. p53 and K-ras mutations were also examined.


RESULTS
Microsatellite instability was detected in two FAP adenocarcinomas from different patients. Mutation percentages observed were: in K-ras 45% and 50% and in p53 14% and 58%, of FAP adenomas and adenocarcinomas, respectively. No K-ras or p53 mutations were determined in the two microsatellite instable adenocarcinomas.


CONCLUSIONS
Microsatellite instability is detectable in a small proportion of adenocarcinomas complicating FAP. This minority of cases may constitute a distinct subgroup among FAP neoplasms.
Michalopoulos
Nikolaos V
NV
Department of Pathology, Medical School, National and Kapodistrian University of Athens, 75 Mikras Asias Str. Goudi, GR-11527, Athens, Greece. nmichal@cc.uoa.gr
Saetta
Angelica
A
Lazaris
Andreas Ch
ACh
Voutsinas
Gerassimos
G
Davaris
Panayiotis S
PS
D000230:Adenocarcinoma / Q000175:diagnosis* / Q000235:genetics*; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics; D002648:Child; D003062:Codon / Q000235:genetics; D005260:Female; D016158:Genes, p53 / Q000235:genetics; D011905:Genes, ras / Q000235:genetics; D006115:Greece; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009367:Neoplasm Staging; D013223:Statistics as Topic
D014408:Biomarkers, Tumor; D003062:Codon