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Fast Approach for Clarification of Chromosomal Aberrations by Using LM-PCR and FT-CGH in Leukaemic Sample
- 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 TRA/D in 68% of cells detected by fluorescence in situ hybridization. FT-CGH showed several mono- and biallelic losses within TRA/D. LM-PCR disclosed a TRA/D rearrangement on one allele. The other allele revealed an inv(14)(q11q32), joining TRDD2 at 21,977,000 of 14q11 together with the IGH locus at 105,948,000 and 3′-sequence of TRAC at 22,092,000 joined together with IGHV4–61 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.
Author: | Kathleen Dittmann, Grzegorz Krzysztof Przybylski, Piotr Grabarczyk, Gottfried Dölken, Stefan Gesk, Reiner Siebert, Christian Andreas Schmidt |
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URN: | urn:nbn:de:gbv:9-opus-32747 |
DOI: | https://doi.org/10.1159/000330519 |
ISSN: | 0001-5792 |
ISSN: | 1421-9662 |
Pubmed Id: | https://pubmed.ncbi.nlm.nih.gov/21986343 |
Parent Title (English): | Acta Haematologica |
Publisher: | S. Karger AG |
Place of publication: | Basel, Switzerland |
Document Type: | Article |
Language: | English |
Date of first Publication: | 2011/10/07 |
Release Date: | 2020/10/08 |
Tag: | Chromosomal aberrations; Fine tiling comparative genomic hybridization; Ligation-mediated PCR; Lymphoblastic leukaemia |
GND Keyword: | - |
Volume: | 127 |
Issue: | 1 |
First Page: | 16 |
Last Page: | 19 |
Faculties: | Universitätsmedizin / Kliniken und Polikliniken für Innere Medizin |
Licence (German): | Urheberrechtlich geschützt |