PMID- 8691319 OWN - NLM STAT- MEDLINE DCOM- 19960826 LR - 20061115 IS - 0022-3417 (Print) IS - 0022-3417 (Linking) VI - 178 IP - 4 DP - 1996 Apr TI - Interphase fluorescence in situ hybridization detection of t(2;13)(q35;q14) in alveolar rhabdomyosarcoma--a diagnostic tool in minimally invasive biopsies. PG - 410-4 AB - The identification of t(2;13)(q35;q14) is a useful aid in the accurate diagnosis of rhabdomyosarcoma, distinguishing it from other small round cell tumours and supporting the distinction between alveolar and embryonal forms. Cytogenetic analysis is difficult and with the increased use of minimally invasive biopsy methods and primary chemotherapy, adequate tumour material is not always available. To overcome these difficulties, two-colour interphase fluorescence in situ hybridization (FISH) to detect t(2;13)(q35;q14) was developed and its utility in assessing minimally invasive biopsies was investigated. Two cosmid clones which mapped proximal or distal to the breakpoint region 13q14 and one yeast artificial chromosome clone that mapped distal to the 2q35 breakpoint were identified. In interphase cells containing t(2;13)(q35;q14), the configuration of cosmid and yeast artificial chromosome signals demonstrated the presence of the translocation. Five cases of rhabdomyosarcoma were analysed by interphase FISH. The t(2;13)(q35;q14) was detected in all four alveolar tumours and was confirmed by cytogenetics in two cases, but was absent in one embryonal tumour. This sensitive detection method is applicable to minimal amounts of fresh or frozen tumour. FAU - McManus, A P AU - McManus AP AD - Section of Paediatrics, Institute of Cancer Research, Sutton, Surrey, U.K. FAU - O'Reilly, M A AU - O'Reilly MA FAU - Jones, K P AU - Jones KP FAU - Gusterson, B A AU - Gusterson BA FAU - Mitchell, C D AU - Mitchell CD FAU - Pinkerton, C R AU - Pinkerton CR FAU - Shipley, J M AU - Shipley JM LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - J Pathol JT - The Journal of pathology JID - 0204634 SB - IM MH - Adolescent MH - Adult MH - Biopsy/methods MH - Chromosomes, Human, Pair 13/*genetics MH - Chromosomes, Human, Pair 2/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Interphase/genetics MH - Male MH - Ploidies MH - Rhabdomyosarcoma, Alveolar/diagnosis/*genetics MH - *Translocation, Genetic MH - Tumor Cells, Cultured EDAT- 1996/04/01 00:00 MHDA- 2000/06/20 09:00 CRDT- 1996/04/01 00:00 PHST- 1996/04/01 00:00 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1996/04/01 00:00 [entrez] AID - 10.1002/(SICI)1096-9896(199604)178:4<410::AID-PATH508>3.0.CO;2-A [pii] AID - 10.1002/(SICI)1096-9896(199604)178:4<410::AID-PATH508>3.0.CO;2-A [doi] PST - ppublish SO - J Pathol. 1996 Apr;178(4):410-4. doi: 10.1002/(SICI)1096-9896(199604)178:4<410::AID-PATH508>3.0.CO;2-A.