Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis

被引:28
作者
Flach, Johanna [1 ]
Dicker, Frank [1 ]
Schnittger, Susanne [1 ]
Kohlmann, Alexander [1 ]
Haferlach, Torsten [1 ]
Haferlach, Claudia [1 ]
机构
[1] MLL Munich Leukemia Lab, D-81377 Munich, Germany
来源
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | 2010年 / 95卷 / 03期
关键词
WHO classification; RARS-T; JAK2; TET2; mutations; RARS-T;
D O I
10.3324/haematol.2009.013631
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:518 / 519
页数:2
相关论文
共 12 条
[1]   Mutation in TET2 in Myeloid Cancers [J].
Delhommeau, Francois ;
Dupont, Sabrina ;
Della Valle, Veronique ;
James, Chloe ;
Trannoy, Severine ;
Masse, Aline ;
Kosmider, Olivier ;
Le Couedic, Jean-Pierre ;
Robert, Fabienne ;
Alberdi, Antonio ;
Lecluse, Yann ;
Plo, Isabelle ;
Dreyfus, Francois J. ;
Marzac, Christophe ;
Casadevall, Nicole ;
Lacombe, Catherine ;
Romana, Serge P. ;
Dessen, Philippe ;
Soulier, Jean ;
Viguie, Franck ;
Fontenay, Michaela ;
Vainchenker, William ;
Bernard, Olivier A. .
NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (22) :2289-2301
[2]   Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms [J].
Grand, Francis H. ;
Hidalgo-Curtis, Claire E. ;
Ernst, Thomas ;
Zoi, Katerina ;
Zoi, Christine ;
McGuire, Carolann ;
Kreil, Sebastian ;
Jones, Amy ;
Score, Joannah ;
Metzgeroth, Georgia ;
Oscier, David ;
Hall, Andrew ;
Brandts, Christian ;
Serve, Hubert ;
Reiter, Andreas ;
Chase, Andrew J. ;
Cross, Nicholas C. P. .
BLOOD, 2009, 113 (24) :6182-6192
[3]   Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms [J].
Jankowska, Anna M. ;
Szpurka, Hadrian ;
Tiu, Ramon V. ;
Makishima, Hideki ;
Afable, Manuel ;
Huh, Jungwon ;
O'Keefe, Christine L. ;
Ganetzky, Rebecca ;
McDevitt, Michael A. ;
Maciejewski, Jaroslaw P. .
BLOOD, 2009, 113 (25) :6403-6410
[4]   Acquired mutations in TET2 are common in myelodysplastic syndromes [J].
Langemeijer, Saskia M. C. ;
Kuiper, Roland P. ;
Berends, Marieke ;
Knops, Ruth ;
Aslanyan, Mariam G. ;
Massop, Marion ;
Stevens-Linders, Ellen ;
van Hoogen, Patricia ;
van Kessel, Ad Geurts ;
Raymakers, Reinier A. P. ;
Kamping, Eveline J. ;
Verhoef, Gregor E. ;
Verburgh, Estelle ;
Hagemeijer, Anne ;
Vandenberghe, Peter ;
de Witte, Theo ;
van der Reijden, Bert A. ;
Jansen, Joop H. .
NATURE GENETICS, 2009, 41 (07) :838-U102
[5]   Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis [J].
Malcovati, Luca ;
Della Porta, Matteo G. ;
Pietra, Daniela ;
Boveri, Emanuela ;
Pellagatti, Andrea ;
Galli, Anna ;
Travaglino, Erica ;
Brisci, Angela ;
Rumi, Elisa ;
Passamonti, Francesco ;
Invernizzi, Rosangela ;
Cremonesi, Laura ;
Boultwood, Jacqueline ;
Wainscoat, James S. ;
Hellstrom-Lindberg, Eva ;
Cazzola, Mario .
BLOOD, 2009, 114 (17) :3538-3545
[6]   Novel TET2 Mutations Associated With UPD4q24 in Myelodysplastic Syndrome [J].
Mohamedali, Azim M. ;
Smith, Alexander E. ;
Gaken, Joop ;
Lea, Nicholas C. ;
Mian, Syed A. ;
Westwood, Nigel B. ;
Strupp, Corinna ;
Gattermann, Norbert ;
Germing, Ulrich ;
Mufti, Ghulam J. .
JOURNAL OF CLINICAL ONCOLOGY, 2009, 27 (24) :4002-4006
[7]   TET2 mutations in myelodysplasia and myeloid malignancies [J].
Mullighan, Charles G. .
NATURE GENETICS, 2009, 41 (07) :766-767
[8]   JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis [J].
Schmitt-Graeff, Annette H. ;
Teo, Soon-Siong ;
Olschewski, Manfred ;
Schaub, Franz ;
Haxelmans, Sabine ;
Kirn, Andreas ;
Reinecke, Petra ;
Germing, Ulrich ;
Skoda, Radek C. .
HAEMATOLOGICA, 2007, 93 (01) :34-40
[9]   UPD1p indicates the presence of MPL W515L mutation in RARS-T, a mechanism analogous to UPD9p and JAK2 V617F mutation [J].
Szpurka, H. ;
Gondek, L. P. ;
Mohan, S. R. ;
Hsi, E. D. ;
Theil, K. S. ;
Maciejewski, J. P. .
LEUKEMIA, 2009, 23 (03) :610-614
[10]   Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation [J].
Szpurka, Hadrian ;
Tiu, Ramon ;
Murugesan, Gurunathan ;
Aboudola, Samer ;
Hsi, Eric D. ;
Theil, Karl S. ;
Sekeres, Mikkael A. ;
Maciejewski, Jaroslaw P. .
BLOOD, 2006, 108 (07) :2173-2181