PMID- 26355708 OWN - NLM STAT- MEDLINE DCOM- 20160722 LR - 20231213 IS - 1098-2264 (Electronic) IS - 1045-2257 (Linking) VI - 54 IP - 12 DP - 2015 Dec TI - Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group. PG - 809-17 LID - 10.1002/gcc.22292 [doi] AB - 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. CI - (c) 2015 Wiley Periodicals, Inc. FAU - Braulke, Friederike AU - Braulke F AD - Department of Hematology and Medical Oncology, University Medicine of Goettingen, Germany. FAU - Muller-Thomas, Catharina AU - Muller-Thomas C AD - Department of Hematology and Oncology, Technical University of Munich, Germany. FAU - Gotze, Katharina AU - Gotze K AD - Department of Hematology and Oncology, Technical University of Munich, Germany. FAU - Platzbecker, Uwe AU - Platzbecker U AD - Department of Hematology and Oncology, University of Dresden, Germany. FAU - Germing, Ulrich AU - Germing U AD - Department of Hematology and Oncology, University of Duesseldorf, Germany. FAU - Hofmann, Wolf-Karsten AU - Hofmann WK AD - Department of Hematology and Oncology, University Hospital of Mannheim, Germany. FAU - Giagounidis, Aristoteles A N AU - Giagounidis AA AD - Department of Hematology and Oncology, Marienhospital, Duesseldorf, Germany. FAU - Lubbert, Michael AU - Lubbert M AD - Department of Hematology and Oncology, University of Freiburg Medical Center, Freiburg, Germany. FAU - Greenberg, Peter L AU - Greenberg PL AD - Department of Hematology, Stanford University Cancer Center, Stanford, CA. FAU - Bennett, John M AU - Bennett JM AD - University of Rochester Medical Center, Rochester, NY. FAU - Sole, Francesc AU - Sole F AD - Institut De Recerca Contra La Leukemia Josep Carreras, Badalona, Spain. FAU - Slovak, Marilyn L AU - Slovak ML AD - Sonora Quest Laboratories, Phoenix, AZ. FAU - Ohyashiki, Kazuma AU - Ohyashiki K AD - Tokyo Medical University, Tokyo, Japan. FAU - Le Beau, Michelle M AU - Le Beau MM AD - Section of Hematology and Oncology, University of Chicago, Chicago, IL. FAU - Tuchler, Heinz AU - Tuchler H AD - Hanusch Hospital Boltzmann Institute for Leukemia Research, Vienna, Austria. FAU - Pfeilstocker, Michael AU - Pfeilstocker M AD - Third Medical Department for Hematology and Oncology and L. Boltzmann Cluster Oncology, Hanusch Hospital, Vienna, Austria. FAU - Hildebrandt, Barbara AU - Hildebrandt B AD - Department of Human Genetics, University of Dusseldorf, Dusseldorf, Germany. FAU - Aul, Carlo AU - Aul C AD - Department of Hematology, Oncology and Clinical Immunology, St. Johannes Hospital, Duisburg, Germany. FAU - Stauder, Reinhard AU - Stauder R AD - Department of Internal Medicine, Innsbruck Medical University, Innsbruck, Austria. FAU - Valent, Peter AU - Valent P AD - Department of Internal Medicine I, Division of Hematology and Hemostaseology and Ludwig Boltzmann Cluster Oncology, Medical University of Vienna, Vienna, Austria. FAU - Fonatsch, Christa AU - Fonatsch C AD - Department of Medical Genetics, Medical University of Vienna, Vienna, Austria. FAU - Bacher, Ulrike AU - Bacher U AD - Department of Hematology and Medical Oncology, University Medicine of Goettingen, Germany. FAU - Trumper, Lorenz AU - Trumper L AD - Department of Hematology and Medical Oncology, University Medicine of Goettingen, Germany. FAU - Haase, Detlef AU - Haase D AD - Department of Hematology and Medical Oncology, University Medicine of Goettingen, Germany. FAU - Schanz, Julie AU - Schanz J AD - Department of Hematology and Medical Oncology, University Medicine of Goettingen, Germany. LA - eng SI - ClinicalTrials.gov/NCT01355913 PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20150910 PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (Antigens, CD34) RN - 0 (Proto-Oncogene Proteins c-ets) RN - 0 (Repressor Proteins) RN - Chromosome 12p deletion SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Antigens, CD34/genetics MH - Chromosome Banding MH - Chromosome Deletion MH - Chromosomes, Human, Pair 12/genetics MH - Control Groups MH - Female MH - Germany MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Male MH - Middle Aged MH - Myelodysplastic Syndromes/*genetics MH - Prognosis MH - Prospective Studies MH - Proto-Oncogene Proteins c-ets/genetics MH - Repressor Proteins/genetics MH - Young Adult MH - ETS Translocation Variant 6 Protein EDAT- 2015/09/12 06:00 MHDA- 2016/07/23 06:00 CRDT- 2015/09/11 06:00 PHST- 2015/04/23 00:00 [received] PHST- 2015/07/03 00:00 [revised] PHST- 2015/07/13 00:00 [accepted] PHST- 2015/09/11 06:00 [entrez] PHST- 2015/09/12 06:00 [pubmed] PHST- 2016/07/23 06:00 [medline] AID - 10.1002/gcc.22292 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 2015 Dec;54(12):809-17. doi: 10.1002/gcc.22292. Epub 2015 Sep 10.