No evidence of microsatellite instability in bone tumours.
Microsatellite instability has recently been reported in sporadic and familial colorectal tumours and can be due to defects in DNA mismatch repair genes. Such instability has subsequently been detected in several other types of sporadic tumours. We studied 29 specimens of bone tumours with different histopathological diagnoses and found no evidence of microsatellite instability. Our results suggest that mismatch repair defects are unlikely to play a significant part in the tumorigenesis of bone neoplasms. Loss of heterozygosity with at least one marker was detected in 11, i.e. in 38% of the tumour samples, most frequently with markers D2S136 at 2p (eight of 28 informative specimens, 29%) and D11S904 at 11p (four of 21 informative specimens, 19%).
Tarkkanen
M
M
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Aaltonen
L A
LA
Böhling
T
T
Kivioja
A
A
Karaharju
E
E
Elomaa
I
I
Knuutila
S
S
D001859:Bone Neoplasms / Q000235:genetics*; D002872:Chromosome Deletion; D004261:DNA Replication; D006801:Humans; D018895:Microsatellite Repeats