A diagnostic biochip for the comprehensive analysis of MLL translocations in acute leukemia.

Abstract:

:Reciprocal rearrangements of the MLL gene are among the most common chromosomal abnormalities in both Acute Lymphoblastic and Myeloid Leukemia. The MLL gene, located on the 11q23 chromosomal band, is involved in more than 40 recurrent translocations. In the present study, we describe the development and validation of a biochip-based assay designed to provide a comprehensive molecular analysis of MLL rearrangements when used in a standard clinical pathology laboratory. A retrospective blind study was run with cell lines (n=5), and MLL positive and negative patient samples (n=31), to evaluate assay performance. The limits of detection determined on cell line data were 10(-1), and the precision studies yielded 100% repeatability and 98% reproducibility. The study shows that the device can detect frequent (AF4, AF6, AF10, ELL or ENL) as well as rare partner genes (AF17, MSF). The identified fusion transcripts can then be used as molecular phenotypic markers of disease for the precise evaluation of minimal residual disease by RQ-PCR. This biochip-based molecular diagnostic tool allows, in a single experiment, rapid and accurate identification of MLL gene rearrangements among 32 different fusion gene (FG) partners, precise breakpoint positioning and comprehensive screening of all currently characterized MLL FGs.

journal_name

Leukemia

journal_title

Leukemia

authors

Maroc N,Morel A,Beillard E,De La Chapelle AL,Fund X,Mozziconacci MJ,Dupont M,Cayuela JM,Gabert J,Koki A,Fert V,Hermitte F

doi

10.1038/sj.leu.2403439

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

1522-30

issue

9

eissn

0887-6924

issn

1476-5551

pii

2403439

journal_volume

18

pub_type

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