Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group. Issue 12 (10th September 2015)

• Record Type: Journal Article
• Authors: Braulke, Friederike; Müller‐Thomas, Catharina; Götze, Katharina; Platzbecker, Uwe; Germing, Ulrich; Hofmann, Wolf‐Karsten; Giagounidis, Aristoteles A. N.; Lübbert, Michael; Greenberg, Peter L.; Bennett, John M.; Solé, Francesc; Slovak, Marilyn L.; Ohyashiki, Kazuma; Le Beau, Michelle M.; Tüchler, Heinz; Pfeilstöcker, Michael; Hildebrandt, Barbara; Aul, Carlo; Stauder, Reinhard; Valent, Peter; Fonatsch, Christa; Bacher, Ulrike; Trümper, Lorenz; Haase, Detlef; Schanz, Julie
• Is Part Of: Genes, chromosomes & cancer. Volume 54:Issue 12(2015:Dec.)
• Page Start: 809
• Page End: 817
• Publication Date: 2015-09-10
• Subjects: Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22292
• Languages: English
• ISSNs: 1045-2257

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 (<ext-link ext-link-type="uri" xlink:href="http://clinicaltrials.gov" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink">clinicaltrials.gov</ext-link>: 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, <italic>P <</italic> 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 patient´s 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 <italic>ETV6/TEL</italic> 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. © 2015 Wiley Periodicals, Inc.</p> </abstract>