t(6;9)(p22; q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients

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title = "t(6;9)(p22; q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients",
abstract = "Acute myeloid leukemia with t(6; 9)(p22; q34) is listed as a distinct entity in the 2008 World Health Organization classification, but little is known about the clinical implications of t(6; 9)-positive myeloid leukemia in children. This international multicenter study presents the clinical and genetic characteristics of 62 pediatric patients with t(6; 9)/DEKNUP214-rearranged myeloid leukemia; 54 diagnosed as having acute myeloid leukemia, representing <1{\%} of all childhood acute myeloid leukemia, and eight as having myelodysplastic syndrome. The t(6; 9)/DEK-NUP214 was associated with relatively late onset (median age 10.4 years), male predominance (sex ratio 1.7), French-American-British M2 classification (54{\%}), myelodysplasia (100{\%}), and FLT3-ITD (42{\%}). Outcome was substantially better than previously reported with a 5-year event-free survival of 32{\%}, 5-year overall survival of 53{\%}, and a 5-year cumulative incidence of relapse of 57{\%}. Hematopoietic stem cell transplantation in first complete remission improved the 5-year event-free survival compared with chemotherapy alone (68{\%} versus 18{\%}; P<0.01) but not the overall survival (68{\%} versus 54{\%}; P=0.48). The presence of FLT3-ITD had a non-significant negative effect on 5-year overall survival compared with non-mutated cases (22{\%} versus 62{\%}; P=0.13). Gene expression profiling showed a unique signature characterized by significantly higher expression of EYA3, SESN1, PRDM2/RIZ, and HIST2H4 genes. In conclusion, t(6; 9)/DEK-NUP214 represents a unique subtype of acute myeloid leukemia with a high risk of relapse, high frequency of FLT3-ITD, and a specific gene expression signature.",
author = "Sandahl, {Julie Damgaard} and Coenen, {Eva A.} and Erik Forestier and Jochen Harbott and Bertil Johansson and Gitte Kerndrup and Souichi Adachi and Anne Auvrignon and Beverloo, {H. Berna} and Jean-Michel Cayuela and Lucy Chilton and Maarten Fornerod and {de Haas}, Valerie and Harrison, {Christine J.} and Hiroto Inaba and Kaspers, {Gertjan J. L.} and Der-Cherng Liang and Franco Locatelli and Riccardo Masetti and Christine Perot and Raimondi, {Susana C.} and Katarina Reinhardt and Daisuke Tomizawa and {von Neuhoff}, Nils and Marco Zecca and Zwaan, {C. Michel} and {van den Heuvel-Eibrink}, {Marry M.} and Henrik Hasle",
year = "2014",
doi = "10.3324/haematol.2013.098517",
language = "English",
volume = "99",
pages = "865--872",
journal = "Haematologica-The Hematology Journal",
issn = "1592-8721",
publisher = "Ferrata Storti Foundation",
number = "5",