PMID- 12447678 OWN - NLM STAT- MEDLINE DCOM- 20030123 LR - 20220419 IS - 0945-6317 (Print) IS - 0945-6317 (Linking) VI - 441 IP - 5 DP - 2002 Nov TI - Molecular cytogenetic mapping of recurrent chromosomal breakpoints in tenosynovial giant cell tumors. PG - 475-80 AB - Tenosynovial giant cell tumor (TGCT) is the most common benign tumor of synovium and tendon sheath. Cytogenetic data indicate that 1p11-13 is the region most frequently involved in structural rearrangements. With the aim of eventually identifying the genes associated with TGCT development, we have investigated 1p11-13 breakpoints using fluorescence in situ hybridization (FISH) analysis, with a panel of yeast artificial chromosome (YAC) probes covering 1p11-21. Twenty-six tumors were analyzed by G-banding, and 24 of these showed a breakpoint in 1p11-13. The cytogenetic findings add to previous observations that, among a variety of translocations involving 1p11-13, chromosome 2 is the most common translocation partner, with a breakpoint in 2q35-37. This aberration was found in eight cases. Other recurrent translocation partners, found in two or three cases, were 5q22-31, 11q11-12, and 8q21-22. Material from 21 tumors was available for FISH analysis, which revealed that the breakpoints clustered to one region spanned by two YAC probes, 914F6 and 885F12 located in 1p13.2, in 18 cases. Bacterial artificial chromosome probes were used to map the recurrent breakpoint on chromosome 2. In four of seven cases there was a breakpoint within the sequence covered by probe 260J21, where the RDC1 gene is located, a gene reported to fuse with HMGIC in lipomas with a 2;12 translocation. FAU - Nilsson, M AU - Nilsson M AD - Department of Clinical Genetics, University Hospital, 221 85 Lund, Sweden. malin.nilsson@klingen.lu.se FAU - Hoglund, M AU - Hoglund M FAU - Panagopoulos, I AU - Panagopoulos I FAU - Sciot, R AU - Sciot R FAU - Dal Cin, P AU - Dal Cin P FAU - Debiec-Rychter, M AU - Debiec-Rychter M FAU - Mertens, F AU - Mertens F FAU - Mandahl, N AU - Mandahl N LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20020413 PL - Germany TA - Virchows Arch JT - Virchows Archiv : an international journal of pathology JID - 9423843 SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Chromosome Banding MH - Chromosome Breakage MH - *Chromosome Fragility MH - Female MH - Giant Cell Tumors/*genetics/pathology MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Middle Aged MH - Physical Chromosome Mapping/*methods MH - Soft Tissue Neoplasms/*genetics/pathology MH - Synovial Membrane/*pathology MH - Tendons/*pathology EDAT- 2002/11/26 04:00 MHDA- 2003/01/24 04:00 CRDT- 2002/11/26 04:00 PHST- 2001/12/14 00:00 [received] PHST- 2002/02/12 00:00 [accepted] PHST- 2002/11/26 04:00 [pubmed] PHST- 2003/01/24 04:00 [medline] PHST- 2002/11/26 04:00 [entrez] AID - 10.1007/s00428-002-0640-y [doi] PST - ppublish SO - Virchows Arch. 2002 Nov;441(5):475-80. doi: 10.1007/s00428-002-0640-y. Epub 2002 Apr 13.