Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group

Friederike Braulke, Catharina Müller-Thomas, Katharina Götze, Uwe Platzbecker, Ulrich Germing, Wolf Karsten Hofmann, Aristoteles A.N. Giagounidis, Michael Lübbert, Peter L. Greenberg, John M. Bennett, Francesc Solé, Marilyn L. Slovak, Kazuma Ohyashiki, Michelle M. Le Beau, Heinz Tüchler, Michael Pfeilstöcker, Barbara Hildebrandt, Carlo Aul, Reinhard Stauder, Peter ValentChrista Fonatsch, Ulrike Bacher, Lorenz Trümper, Detlef Haase, Julie Schanz

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

In myelodysplastic syndromes (MDS), deletion of the short arm of chromosome 12 (del(12p)) is usually a small abnormality, rarely detected as a single aberration by chromosome banding analysis (CBA) of bone marrow metaphases. Del(12p) has been described in 0.6 to 5% of MDS patients at initial diagnosis and is associated with a good to intermediate prognosis as a sole anomaly according to current scoring systems. Here, we present the results of a systematic del(12p) testing in a German prospective diagnostic study (clinicaltrials.gov: NCT01355913) on 367 MDS patients in whom CD34+ peripheral blood cells were analysed for the presence of del(12p) by sequential fluorescence in situ hybridization (FISH) analyses. A cohort of 2,902 previously published MDS patients diagnosed by CBA served as control. We demonstrate that, using a sensitive FISH technique, 12p deletion occurs significantly more frequently in MDS than previously described (7.6% by CD34+ PB-FISH vs. 1.6% by CBA, P < 0.001) and is often associated with other aberrations (93% by CD34+ PB-FISH vs. 60% by CBA). Additionally, the detection rate can be increased by repeated analyses in a patient over time which is important for the patientś prognosis to distinguish a sole anomaly from double or complex aberrations. To our knowledge, this is the first study to screen for 12p deletions with a suitable probe for ETV6/TEL in 12p13. Our data suggest that the supplement of a probe for the detection of a 12p deletion to common FISH probe panels helps to avoid missing a del(12p), especially as part of more complex aberrations.

Original languageEnglish
Pages (from-to)809-817
Number of pages9
JournalGenes Chromosomes and Cancer
Volume54
Issue number12
DOIs
StatePublished - Dec 2015

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