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- Dokumenttyp:
- Journal Article; Research Support, Non-U.S. Gov't; Article
- Autor(en):
- 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
- Titel:
- Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group.
- 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 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 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.
- Zeitschriftentitel:
- Genes Chromosomes Cancer
- Jahr:
- 2015
- Band / Volume:
- 54
- Heft / Issue:
- 12
- Seitenangaben Beitrag:
- 809-17
- Sprache:
- eng
- Volltext / DOI:
- doi:10.1002/gcc.22292
- PubMed:
- http://view.ncbi.nlm.nih.gov/pubmed/26355708
- Print-ISSN:
- 1045-2257
- TUM Einrichtung:
- III. Medizinische Klinik und Poliklinik (Hämatologie / Onkologie)
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