title: Analysis of the distribution and frequency of trisomy 7 in vivo in synovia from patients with osteoarthritis and pigmented villonodular synovitis.
abstract: Osteoarthritis (OA) and pigmented villonodular synovitis (PVNS) are disorders associated with trisomy 7. The aim of the present study was to determine the frequency and distribution of the cells with +7 in vivo by analyzing sections of paraffin-embedded synovia from patients affected by OA, PVNS, other forms of synovitis [hemorragic synovitis (HS) and chronic synovitis (CS)], and from individuals without joint disease. Fluorescence in situ hybridization (FISH), using a centromeric probe for chromosome 7, showed that the mean frequency of trisomic nuclei in 5-microm sections was highest in PVNS (9.0%), followed by CS (5.9%), OA (5.6%), and HS (4.6%), whereas trisomic nuclei were rare (0.7%) in normal tissue. When 8-microm sections were studied, the frequencies of trisomic cells in OA and control synovia increased to 6.7% and 1.5%, respectively. Trisomic nuclei were found in all cases, including those for which cytogenetic analysis of short-term cultures had not disclosed any trisomic cells. Overall, the trisomic cells were scattered within the tissue. However, small clusters of cells with +7 were found in three cases. By hematoxylin-eosin staining of the slides used for FISH analysis it could be shown that the clustered trisomic cells were proliferating synoviocytes within villous extensions of the synovial membrane.
authors.affiliation: Department of Clinical Genetics, University Hospital, SE-221 85, Lund, Sweden. anna.dahlen@klingen.lu.se
authors.forename: A
authors.initials: A
authors.lastname: Dahlén
authors.forename: K
authors.initials: K
authors.lastname: Broberg
authors.forename: H A
authors.initials: HA
authors.lastname: Domanski
authors.forename: S
authors.initials: S
authors.lastname: Toksvig-Larsen
authors.forename: A
authors.initials: A
authors.lastname: Lindstrand
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
authors.forename: F
authors.initials: F
authors.lastname: Mertens
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002452:Cell Count; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003627:Data Interpretation, Statistical; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010003:Osteoarthritis / Q000235:genetics* / Q000473:pathology; D013582:Synovial Fluid / Q000378:metabolism*; D013586:Synovitis, Pigmented Villonodular / Q000235:genetics* / Q000473:pathology; D014314:Trisomy / Q000235:genetics*