Interphase fluorescence in situ hybridization for detection of 8q24/MYC breakpoints on routine histologic sections: Validation in Burkitt lymphomas from three geographic regions

• DOI: 10.1002/gcc.20009
• Publication Date: 2004-03-17T00:02:13Z
• Authors: Eugenia Haralambieva; Ed Schuuring; Stefano Rosati; Carel van Noesel; Patty Jansen; Inge Appel; Jeroen Guikema; Henry Wabinga; Luiz Fernando Ble...; King Lam; Eva van den Berg; Clemens Mellink; Shama van Zeldere...; Philip Kluin
• Keywords: Breakpoint; Interphase; Comparative genomic hybridization; Southern blot

Abstract A chromosomal translocation involving the MYC gene is characteristic of Burkitt lymphoma (BL) and represents a molecular disease marker with diagnostic clinical implications. The detection breakpoints hampered by technical problems, including distribution over very large genomic region approximately 1,000 kb. In this article, we report on testing validation segregation fluorescence in situ hybridization (FISH) assay for series BLs. contig overlapping clones was generated, two probe sets flanking were selected. Both tested an interphase FISH 8 B‐cell cell lines 32 samples proved 8q24/ abnormalities validated 47 BLs from Netherlands, Brazil, Uganda. identified 98% tumors test 89% cases series. all positive samples, located between 190 kb 5′ 50 3′ . Nine had more distant breakpoints, one patient insertion into IGH detected. three lacking CD10 expression, no breakpoint could be detected, suggesting that discriminative BL. We did not find consistent differences BL atypical incidence breakpoint. © 2004 Wiley‐Liss, Inc.