PMID- 15034863 OWN - NLM STAT- MEDLINE DCOM- 20040525 LR - 20191210 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 40 IP - 1 DP - 2004 May TI - Interphase fluorescence in situ hybridization for detection of 8q24/MYC breakpoints on routine histologic sections: validation in Burkitt lymphomas from three geographic regions. PG - 10-8 AB - A chromosomal translocation involving the MYC gene is characteristic of Burkitt lymphoma (BL) and represents a molecular disease marker with diagnostic and clinical implications. The detection of MYC breakpoints is hampered by technical problems, including the distribution of the breakpoints over a very large genomic region of approximately 1,000 kb. In this article, we report on the testing and validation of a segregation fluorescence in situ hybridization (FISH) assay for MYC breakpoints on a large series of BLs. A contig of overlapping genomic clones was generated, and two probe sets flanking the MYC gene were selected. Both probe sets were tested in an interphase FISH segregation assay on 8 B-cell lymphoma cell lines and 32 lymphoma samples with proved 8q24/MYC abnormalities and validated in 47 BLs from The Netherlands, Brazil, and Uganda. MYC translocation breakpoints were identified in 98% of the tumors of the test series and in 89% of the cases of the validation series. In 89% of all positive samples, the breakpoints were located between 190 kb 5' and 50 kb 3' of MYC. Nine cases had more distant breakpoints, and in one patient an insertion of MYC into the IGH region was detected. In two of the three BLs lacking CD10 expression, no breakpoint could be detected, suggesting that CD10 is a discriminative marker of BL. We did not find consistent differences between BL and atypical BL in incidence of an MYC breakpoint. CI - Copyright 2004 Wiley-Liss, Inc. FAU - Haralambieva, Eugenia AU - Haralambieva E AD - Department of Pathology & Laboratory Medicine, University Hospital Groningen, Groningen, The Netherlands. FAU - Schuuring, Ed AU - Schuuring E FAU - Rosati, Stefano AU - Rosati S FAU - van Noesel, Carel AU - van Noesel C FAU - Jansen, Patty AU - Jansen P FAU - Appel, Inge AU - Appel I FAU - Guikema, Jeroen AU - Guikema J FAU - Wabinga, Henry AU - Wabinga H FAU - Bleggi-Torres, Luiz Fernando AU - Bleggi-Torres LF FAU - Lam, King AU - Lam K FAU - van den Berg, Eva AU - van den Berg E FAU - Mellink, Clemens AU - Mellink C FAU - van Zelderen-Bhola, Shama AU - van Zelderen-Bhola S FAU - Kluin, Philip AU - Kluin P LA - eng PT - Journal Article PT - Validation Study PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (DNA Probes) RN - 0 (DNA, Neoplasm) RN - EC 3.2.2.- (DNA Glycosylases) RN - EC 3.2.2.- (mutY adenine glycosylase) SB - IM MH - Adolescent MH - Adult MH - Burkitt Lymphoma/epidemiology/*genetics/pathology MH - Cell Line, Tumor MH - Child MH - Child, Preschool MH - Chromosome Breakage/*genetics MH - Chromosomes, Human, Pair 8/*genetics MH - DNA Glycosylases/*genetics MH - DNA Probes/genetics MH - DNA, Neoplasm/genetics MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Interphase/genetics MH - Lymphoma, B-Cell/chemistry/metabolism MH - Middle Aged EDAT- 2004/03/23 05:00 MHDA- 2004/05/27 05:00 CRDT- 2004/03/23 05:00 PHST- 2004/03/23 05:00 [pubmed] PHST- 2004/05/27 05:00 [medline] PHST- 2004/03/23 05:00 [entrez] AID - 10.1002/gcc.20009 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 2004 May;40(1):10-8. doi: 10.1002/gcc.20009.