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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;

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

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  • Medientyp: E-Artikel
  • Titel: Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group
  • Beteiligte: 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;
  • Erschienen: Wiley, 2015
  • Erschienen in: Genes, Chromosomes and Cancer
  • Sprache: Englisch
  • DOI: 10.1002/gcc.22292
  • ISSN: 1045-2257; 1098-2264
  • Schlagwörter: Cancer Research ; Genetics
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats: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 (<jats:ext-link xmlns:xlink="http://www.w3.org/1999/xlink" xlink:href="http://clinicaltrials.gov">clinicaltrials.gov</jats: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, <jats:italic>P &lt;</jats: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 <jats:italic>ETV6/TEL</jats: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.</jats:p>