In:
Acta Haematologica, S. Karger AG, Vol. 127, No. 1 ( 2012), p. 16-19
Abstract:
Chromosomal abnormalities, like deletions, amplifications, inversions or translocations, are recurrent features in haematological malignancies. However, the precise molecular breakpoints are frequently not determined. Here we describe a rapid analysis of genetic imbalances combining fine tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR). We clarified an inv(14)(q11q32) in a case of T cell acute lymphoblastic leukaemia with a breakpoint in the 〈 i 〉 TRA/D 〈 /i 〉 in 68% of cells detected by fluorescence in situ hybridization. FT-CGH showed several mono- and biallelic losses within 〈 i 〉 TRA/D 〈 /i 〉 . LM-PCR disclosed a 〈 i 〉 TRA/D 〈 /i 〉 rearrangement on one allele. The other allele revealed an inv(14)(q11q32), joining 〈 i 〉 TRDD2 〈 /i 〉 at 21,977,000 of 14q11 together with the 〈 i 〉 IGH 〈 /i 〉 locus at 105,948,000 and 3′-sequence of 〈 i 〉 TRAC 〈 /i 〉 at 22,092,000 joined together with 〈 i 〉 IGHV4–61 〈 /i 〉 at 106,166,000. This sensitive approach can unravel complex chromosomal abnormalities in patient samples with a limited amount of aberrant cells and may lead to better diagnostic and therapeutic options.
Type of Medium:
Online Resource
ISSN:
0001-5792
,
1421-9662
Language:
English
Publisher:
S. Karger AG
Publication Date:
2012
detail.hit.zdb_id:
1481888-7
detail.hit.zdb_id:
80008-9
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