Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis

被引：46

作者：

Broseus, J. ^{[1
,2
]}

Lippert, E. ^{[3
,4
]}

Harutyunyan, A. S. ^{[5
]}

Jeromin, S. ^{[6
]}

Zipperer, E. ^{[7
]}

Florensa, L. ^{[8
]}

Milosevic, J. D. ^{[5
]}

Haferlach, T. ^{[6
]}

Germing, U. ^{[7
]}

Luno, E. ^{[9
]}

Schnittger, S. ^{[6
]}

Kralovics, R. ^{[5
]}

Girodon, F. ^{[10
,11
]}

机构：

[1] Univ Hosp, Serv Hematol Biolog, Nancy, France

[2] Inserm U954, Fac Med, Nancy, France

[3] Univ Hosp, Haematol Lab, Bordeaux, France

[4] Univ Bordeaux Segalen, Inserm U1035, Bordeaux, France

[5] Austrian Acad Sci, CeMM Res Ctr Mol Med, Vienna, Austria

[6] MLL Munich Leukemia Lab, Munich, Germany

[7] Univ Dusseldorf, Dept Haematol Oncol & Clin Immunol, Dusseldorf, Germany

[8] Hosp Mar, Lab Citol Hematol, Serv Patol, Barcelona, Spain

[9] Serv Salud Principado Asturias, Serv Hematol, Oviedo, Spain

[10] Univ Hosp, Haematol Lab, Dijon, France

[11] Fac Med Dijon, INSERM, U866, Dijon, France

来源：

LEUKEMIA | 2014年 / 28卷 / 06期

关键词：

FEATURES;

D O I：

10.1038/leu.2014.49

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：1374 / 1376

页数：4

共 15 条

[1]

[Anonymous], 2008, WHO CLASSIFICATION T

[2] Age, JAK2V617F and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis [J].

Broseus, J. ;

Alpermann, T. ;

Wulfert, M. ;

Brichs, L. Florensa ;

Jeromin, S. ;

Lippert, E. ;

Rozman, M. ;

Lifermann, F. ;

Grossmann, V. ;

Haferlach, T. ;

Germing, U. ;

Luno, E. ;

Girodon, F. ;

Schnittger, S. .

LEUKEMIA, 2013, 27 (09) :1826-1831

[3] Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis [J].

Broseus, Julien ;

Florensa, Lourdes ;

Zipperer, Esther ;

Schnittger, Susanne ;

Malcovati, Luca ;

Richebourg, Steven ;

Lippert, Eric ;

Cermak, Jaroslav ;

Evans, Jyoti ;

Mounier, Morgane ;

Maria Raya, Jose ;

Bailly, Francois ;

Gattermann, Norbert ;

Haferlach, Torsten ;

Garand, Richard ;

Allou, Kaoutar ;

Besses, Carlos ;

Germing, Ulrich ;

Haferlach, Claudia ;

Travaglino, Erica ;

Luno, Elisa ;

Angeles Pinan, Maria ;

Arenillas, Leonor ;

Rozman, Maria ;

Perez Sirvent, Maria Luz ;

Favre, Bernardine ;

Guy, Julien ;

Alonso, Esther ;

Ahwij, Nuhri ;

Jerez, Andres ;

Hermouet, Sylvie ;

Maynadie, Marc ;

Cazzola, Mario ;

Girodon, Francois .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (07) :1036-1041

[4] Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms [J].

Klampfl, Thorsten ;

Gisslinger, Heinz ;

Harutyunyan, Ashot S. ;

Nivarthi, Harini ;

Rumi, Elisa ;

Milosevic, Jelena D. ;

Them, Nicole C. C. ;

Berg, Tiina ;

Gisslinger, Bettina ;

Pietra, Daniela ;

Chen, Doris ;

Vladimer, Gregory I. ;

Bagienski, Klaudia ;

Milanesi, Chiara ;

Casetti, Ilaria Carola ;

Sant'Antonio, Emanuela ;

Ferretti, Virginia ;

Elena, Chiara ;

Schischlik, Fiorella ;

Cleary, Ciara ;

Six, Melanie ;

Schalling, Martin ;

Schoenegger, Andreas ;

Bock, Christoph ;

Malcovati, Luca ;

Pascutto, Cristiana ;

Superti-Furga, Giulio ;

Cazzola, Mario ;

Kralovics, Robert .

NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (25) :2379-2390

[5] The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera [J].

Lippert, Eric ;

Boissinot, Marjorie ;

Kralovics, Robert ;

Girodon, Francois ;

Dobo, Irene ;

Praloran, Vincent ;

Boiret-Dupre, Nathalie ;

Skoda, Radek C. ;

Hermouet, Sylvie .

BLOOD, 2006, 108 (06) :1865-1867

[6] Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2 [J].

Nangalia, J. ;

Massie, C. E. ;

Baxter, E. J. ;

Nice, F. L. ;

Gundem, G. ;

Wedge, D. C. ;

Avezov, E. ;

Li, J. ;

Kollmann, K. ;

Kent, D. G. ;

Aziz, A. ;

Godfrey, A. L. ;

Hinton, J. ;

Martincorena, I. ;

Van Loo, P. ;

Jones, A. V. ;

Guglielmelli, P. ;

Tarpey, P. ;

Harding, H. P. ;

Fitzpatrick, J. D. ;

Goudie, C. T. ;

Ortmann, C. A. ;

Loughran, S. J. ;

Raine, K. ;

Jones, D. R. ;

Butler, A. P. ;

Teague, J. W. ;

O'Meara, S. ;

McLaren, S. ;

Bianchi, M. ;

Silber, Y. ;

Dimitropoulou, D. ;

Bloxham, D. ;

Mudie, L. ;

Maddison, M. ;

Robinson, B. ;

Keohane, C. ;

Maclean, C. ;

Hill, K. ;

Orchard, K. ;

Tauro, S. ;

Du, M-Q ;

Greaves, M. ;

Bowen, D. ;

Huntly, B. J. P. ;

Harrison, C. N. ;

Cross, N. C. P. ;

Ron, D. ;

Vannucchi, A. M. ;

Papaemmanuil, E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (25) :2391-2405

[7] Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts [J].

Papaemmanuil, E. ;

Cazzola, M. ;

Boultwood, J. ;

Malcovati, L. ;

Vyas, P. ;

Bowen, D. ;

Pellagatti, A. ;

Wainscoat, J. S. ;

Hellstrom-Lindberg, E. ;

Gambacorti-Passerini, C. ;

Godfrey, A. L. ;

Rapado, I. ;

Cvejic, A. ;

Rance, R. ;

McGee, C. ;

Ellis, P. ;

Mudie, L. J. ;

Stephens, P. J. ;

McLaren, S. ;

Massie, C. E. ;

Tarpey, P. S. ;

Varela, I. ;

Nik-Zainal, S. ;

Davies, H. R. ;

Shlien, A. ;

Jones, D. ;

Raine, K. ;

Hinton, J. ;

Butler, A. P. ;

Teague, J. W. ;

Baxter, E. J. ;

Score, J. ;

Galli, A. ;

Della Porta, M. G. ;

Travaglino, E. ;

Groves, M. ;

Tauro, S. ;

Munshi, N. C. ;

Anderson, K. C. ;

El-Naggar, A. ;

Fischer, A. ;

Mustonen, V. ;

Warren, A. J. ;

Cross, N. C. P. ;

Green, A. R. ;

Futreal, P. A. ;

Stratton, M. R. ;

Campbell, P. J. .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (15) :1384-1395

[8] MPL515 mutations in myeloproliferative and other myeloid disorders:: a study of 1182 patients [J].

Pardanani, Animesh D. ;

Levine, Ross L. ;

Lasho, Terra ;

Pikman, Yana ;

Mesa, Ruben A. ;

Wadleigh, Martha ;

Steensma, David P. ;

Elliott, Michelle A. ;

Wolanskyj, Alexandra R. ;

Hogan, William J. ;

McClure, Rebecca F. ;

Litzow, Mark R. ;

Gilliland, D. Gary ;

Tefferi, Ayalew .

BLOOD, 2006, 108 (10) :3472-3476

[9] High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis [J].

Renneville, A. ;

Quesnel, B. ;

Charpentier, A. ;

Terriou, L. ;

Crinquette, A. ;

Lai, J-L ;

Cossement, C. ;

Lionne-Huyghe, P. ;

Rose, C. ;

Bauters, F. ;

Preudhomme, C. .

LEUKEMIA, 2006, 20 (11) :2067-2070

[10] Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis [J].

Schnittger, S. ;

Bacher, U. ;

Haferlach, C. ;

Dengler, R. ;

Kroeber, A. ;

Kern, W. ;

Haferlach, T. .

LEUKEMIA, 2008, 22 (02) :453-455

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