Ioannis Panagopoulos1, Ludmila Gorunova2, Synne Torkildsen2,3, Geir E Tjønnfjord3,4, Francesca Micci2, Sverre Heim2,4. 1. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ioannis.panagopoulos@rr-research.no. 2. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. 3. Department of Haematology, Oslo University Hospital, Oslo, Norway. 4. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Abstract
BACKGROUND/AIM: Given the diagnostic, prognostic, biologic, and even therapeutic impact of leukemia-associated translocations and fusion genes, it is important to detect cryptic genomic rearrangements that may exist in hematological malignancies. CASE REPORT: RNA-sequencing was performed on an acute myeloid leukemia case with the bone marrow karyotype 45,X,-Y,t(9;12) (q34;q15)[16]. RESULTS: The DEK-NUP214 and PRRC2B-DEK fusion genes were found. Reverse transcriptase polymerase chain reaction together with direct sequencing verified the presence of both. Fluorescence in situ hybridization showed that the DEK-NUP214 fusion gene was located on the 6p22 band of a seemingly normal chromosome 6. CONCLUSION: RNA-sequencing proved to be a valuable tool for the detection of a fusion of genes DEK and NUP214 in a leukemia that showed cryptic cytogenetic rearrangement of chromosome band 9q34. Copyright
BACKGROUND/AIM: Given the diagnostic, prognostic, biologic, and even therapeutic impact of leukemia-associated translocations and fusion genes, it is important to detect cryptic genomic rearrangements that may exist in hematological malignancies. CASE REPORT: RNA-sequencing was performed on an acute myeloid leukemia case with the bone marrow karyotype 45,X,-Y,t(9;12) (q34;q15)[16]. RESULTS: The DEK-NUP214 and PRRC2B-DEK fusion genes were found. Reverse transcriptase polymerase chain reaction together with direct sequencing verified the presence of both. Fluorescence in situ hybridization showed that the DEK-NUP214 fusion gene was located on the 6p22 band of a seemingly normal chromosome 6. CONCLUSION: RNA-sequencing proved to be a valuable tool for the detection of a fusion of genes DEK and NUP214 in a leukemia that showed cryptic cytogenetic rearrangement of chromosome band 9q34. Copyright
Authors: Julie Damgaard Sandahl; Eva A Coenen; Erik Forestier; Jochen Harbott; Bertil Johansson; Gitte Kerndrup; Souichi Adachi; Anne Auvrignon; H Berna Beverloo; Jean-Michel Cayuela; Lucy Chilton; Maarten Fornerod; Valérie de Haas; Christine J Harrison; Hiroto Inaba; Gertjan J L Kaspers; Der-Cherng Liang; Franco Locatelli; Riccardo Masetti; Christine Perot; Susana C Raimondi; Katarina Reinhardt; Daisuke Tomizawa; Nils von Neuhoff; Marco Zecca; C Michel Zwaan; Marry M van den Heuvel-Eibrink; Henrik Hasle Journal: Haematologica Date: 2014-01-17 Impact factor: 9.941
Authors: Jan Cools; Daniel J DeAngelo; Jason Gotlib; Elizabeth H Stover; Robert D Legare; Jorges Cortes; Jeffrey Kutok; Jennifer Clark; Ilene Galinsky; James D Griffin; Nicholas C P Cross; Ayalew Tefferi; James Malone; Rafeul Alam; Stanley L Schrier; Janet Schmid; Michal Rose; Peter Vandenberghe; Gregor Verhoef; Marc Boogaerts; Iwona Wlodarska; Hagop Kantarjian; Peter Marynen; Steven E Coutre; Richard Stone; D Gary Gilliland Journal: N Engl J Med Date: 2003-03-27 Impact factor: 91.245
Authors: John S Welch; Peter Westervelt; Li Ding; David E Larson; Jeffery M Klco; Shashikant Kulkarni; John Wallis; Ken Chen; Jacqueline E Payton; Robert S Fulton; Joelle Veizer; Heather Schmidt; Tammi L Vickery; Sharon Heath; Mark A Watson; Michael H Tomasson; Daniel C Link; Timothy A Graubert; John F DiPersio; Elaine R Mardis; Timothy J Ley; Richard K Wilson Journal: JAMA Date: 2011-04-20 Impact factor: 56.272
Authors: S A Shurtleff; A Buijs; F G Behm; J E Rubnitz; S C Raimondi; M L Hancock; G C Chan; C H Pui; G Grosveld; J R Downing Journal: Leukemia Date: 1995-12 Impact factor: 11.528
Authors: Ioannis Panagopoulos; Synne Torkildsen; Ludmila Gorunova; Anne Tierens; Geir E Tjønnfjord; Sverre Heim Journal: PLoS One Date: 2014-05-05 Impact factor: 3.240