ETV6 RELATED THROMBOCYTOPENIA (ETV6RT): A NEW FORM OF INHERITED THROMBOCYTOPENIA PREDISPOSING TO CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA

被引:0
作者
Melazzini, F. [1 ]
De Rocco, D. [2 ]
Marconi, C. [3 ,4 ]
Di Buduo, C. [5 ]
Doubek, M. [6 ]
Balduini, A. [5 ]
Barozzi, S. [1 ]
Cigalini, E. [1 ]
Pecci, A. [1 ]
Balduini, C. L. [1 ]
机构
[1] IRCCS Policlin S Matteo Fdn, Pavia, Italy
[2] Univ Trieste, Med Sci, Inst Maternal & Child Hlth, IRCCS Burlo Garofolo, Trieste, Italy
[3] Policlin St Orsola Malpighi, Med & Surg Sci, Bologna, Italy
[4] Univ Bologna, Bologna, Italy
[5] Univ Pavia, Mol Med, Pavia, Italy
[6] Univ Hosp Brno, Internal Med, Haematol Oncol, Brno, Czech Republic
关键词
MUTATIONS;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
O11
引用
收藏
页码:7 / 8
页数:2
相关论文
共 3 条
[1]   Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia [J].
Noetzli, Leila ;
Lo, Richard W. ;
Lee-Sherick, Alisa B. ;
Callaghan, Michael ;
Noris, Patrizia ;
Savoia, Anna ;
Rajpurkar, Madhvi ;
Jones, Kenneth ;
Gowan, Katherine ;
Balduini, Carlo L. ;
Pecci, Alessandro ;
Gnan, Chiara ;
De Rocco, Daniela ;
Doubek, Michael ;
Li, Ling ;
Lu, Lily ;
Leung, Richard ;
Landolt-Marticorena, Carolina ;
Hunger, Stephen ;
Heller, Paula ;
Gutierrez-Hartmann, Arthur ;
Liang Xiayuan ;
Pluthero, Fred G. ;
Rowley, Jesse W. ;
Weyrich, Andrew S. ;
Kahr, Walter H. A. ;
Porter, Christopher C. ;
Di Paola, Jorge .
NATURE GENETICS, 2015, 47 (05) :535-U143
[2]   Diagnosis and treatment of inherited thrombocytopenias [J].
Pecci, A. .
CLINICAL GENETICS, 2016, 89 (02) :141-153
[3]   Germ line ETV6 mutations in familial thrombocytopenia and hematologic malignancy [J].
Zhang, Michael Y. ;
Churpek, Jane E. ;
Keel, Sioban B. ;
Walsh, Tom ;
Lee, Ming K. ;
Loeb, Keith R. ;
Gulsuner, Suleyman ;
Pritchard, Colin C. ;
Sanchez-Bonilla, Marilyn ;
Delrow, Jeffrey J. ;
Basom, Ryan S. ;
Forouhar, Melissa ;
Gyurkocza, Boglarka ;
Schwartz, Bradford S. ;
Neistadt, Barbara ;
Marquez, Rafael ;
Mariani, Christopher J. ;
Coats, Scott A. ;
Hofmann, Inga ;
Lindsley, R. Coleman ;
Williams, David A. ;
Abkowitz, Janis L. ;
Horwitz, Marshall S. ;
King, Mary-Claire ;
Godley, Lucy A. ;
Shimamura, Akiko .
NATURE GENETICS, 2015, 47 (02) :180-185