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

被引:46
作者
Haralambieva, E
Schuuring, E
Rosati, S
van Noesel, C
Jansen, P
Appel, I
Guikema, J
Wabinga, H
Bleggi-Torres, LF
Lam, K
van den Berg, E
Mellink, C
van Zelderen-Bhola, S
Kluin, P
机构
[1] Univ Groningen Hosp, Dept Pathol & Lab Med, Groningen, Netherlands
[2] Univ Amsterdam, Med Ctr, Dept Pathol, NL-1012 WX Amsterdam, Netherlands
[3] Leiden Univ, Med Ctr, Dept Pathol, NL-2300 RA Leiden, Netherlands
[4] DCOG, The Hague, Netherlands
[5] Erasmus Univ, Med Ctr, Sophia Childrens Hosp, Rotterdam, Netherlands
[6] Makerere Univ, Sch Med, Dept Pathol, Kampala, Uganda
[7] Hosp Nossa Senhora Gracas, Div Anat Pathol, Curitiba, Parana, Brazil
[8] Erasmus Univ, Med Ctr, Dept Pathol, Rotterdam, Netherlands
[9] Univ Groningen Hosp, Dept Med Genet, Groningen, Netherlands
[10] Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
[11] Leiden Univ, Med Ctr, Dept Cytogenet, NL-2300 RA Leiden, Netherlands
关键词
D O I
10.1002/gcc.20009
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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. (C) 2004 Wiley-Liss, Inc.
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页码:10 / 18
页数:9
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