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Interphase fluorescence in situ hybridization for detection of 8q24/MYC breakpoints on routine histologic sections: Validation in Burkitt lymphomas from three geographic regions
Author(s) -
Haralambieva Eugenia,
Schuuring Ed,
Rosati Stefano,
van Noesel Carel,
Jansen Patty,
Appel Inge,
Guikema Jeroen,
Wabinga Henry,
Fernando BleggiTorres Luiz,
Lam King,
van den Berg Eva,
Mellink Clemens,
van ZelderenBhola Shama,
Kluin Philip
Publication year - 2004
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20009
Subject(s) - breakpoint , fluorescence in situ hybridization , chromosomal translocation , biology , interphase , contig , lymphoma , microbiology and biotechnology , comparative genomic hybridization , cytogenetics , southern blot , gene , genetics , chromosome , genome , immunology
Abstract 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. © 2004 Wiley‐Liss, Inc.