Presence of calreticulin mutations in JAK2-negative polycythemia vera

被引:78
作者
Broseus, Julien [1 ,2 ]
Park, Ji-Hye [3 ]
Carillo, Serge [4 ,5 ]
Hermouet, Sylvie [6 ,7 ]
Girodon, Francois [3 ,8 ,9 ]
机构
[1] Ctr Hosp Univ Nancy, Dept Hematol Biol, Pole Labs, Nancy, France
[2] Univ Lorraine, INSERM, U954, Nancy, France
[3] Ctr Hosp Univ Dijon, Dept Hematol Biol, Dijon, France
[4] Ctr Hosp Univ Nimes, Dept Cytol Clin, Nimes, France
[5] Univ Montpellier, CNRS, Unite Mixte Rech 5247, F-34059 Montpellier, France
[6] CHU Nantes, Dept Hematol, F-44035 Nantes 01, France
[7] INSERM, Inst Rech Therapeut, U892, Nantes, France
[8] Univ Bourgogne, INSERM, U866, Dijon, France
[9] Ctr Ressources Biol Ferdinand Cabanne, Dijon, France
关键词
RED-CELL MASS; MYELOPROLIFERATIVE NEOPLASMS; ESSENTIAL THROMBOCYTHEMIA; SOMATIC MUTATIONS; CALR MUTATIONS; JAK2; MYELOFIBROSIS; DIAGNOSIS;
D O I
10.1182/blood-2014-06-583161
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Calreticulin (CALR) mutations have been reported in Janus kinase 2 (JAK2)- and myeloproliferative leukemia (MPL)-negative essential thrombocythemia and primary myelofibrosis. In contrast, no CALR mutations have ever been reported in the context of polycythemia vera (PV). Here, we describe 2 JAK2(V617F)-JAK2(exon12)-negative PV patients who presented with a CALR mutation in peripheral granulocytes at the time of diagnosis. In both cases, the CALR mutation was a 52-bp deletion. Single burst-forming units-erythroid (BFU-E) from 1 patient were grown in vitro and genotyped: the same CALR del 52-bp mutation was noted in 31 of the 37 colonies examined; 30 of 31 BFU-E were heterozygous for CALR del 52 bp, and 1 of 31 BFU-E was homozygous for CALR del 52 bp. In summary, although unknown mutations leading to PV cannot be ruled out, our results suggest that CALR mutations can be associated with JAK2-negative PV.
引用
收藏
页码:3964 / 3966
页数:3
相关论文
共 15 条
[1]   Red cell mass measurement in patients with clinically suspected diagnosis of polycythemia vera or essential thrombocythemia [J].
Alvarez-Larran, Alberto ;
Ancochea, Agueda ;
Angona, Anna ;
Pedro, Carme ;
Garcia-Pallarols, Francesc ;
Martinez-Aviles, Luz ;
Bellosillo, Beatriz ;
Besses, Carlos .
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (11) :1704-1707
[2]   Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis [J].
Boyd, Elaine M. ;
Bench, Anthony J. ;
Goday-Fernandez, Andrea ;
Anand, Shubha ;
Vaghela, Krishna J. ;
Beer, Phillip ;
Scott, Mike A. ;
Bareford, David ;
Green, Anthony R. ;
Huntly, Brian ;
Erber, Wendy N. .
BRITISH JOURNAL OF HAEMATOLOGY, 2010, 149 (02) :250-257
[3]   Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis [J].
Broseus, J. ;
Lippert, E. ;
Harutyunyan, A. S. ;
Jeromin, S. ;
Zipperer, E. ;
Florensa, L. ;
Milosevic, J. D. ;
Haferlach, T. ;
Germing, U. ;
Luno, E. ;
Schnittger, S. ;
Kralovics, R. ;
Girodon, F. .
LEUKEMIA, 2014, 28 (06) :1374-1376
[4]   Nested High-Resolution Melting Curve Analysis A Highly Sensitive, Reliable, and Simple Method for Detection of Jak2 Exon 12 Mutations-Clinical Relevance in the Monitoring of Polycythemia [J].
Carillo, Serge ;
Henry, Laurent ;
Lippert, Eric ;
Girodon, Francois ;
Guiraud, Isabelle ;
Richard, Celine ;
Galopin, Frederique Dubois ;
Cleyrat, Cedric ;
Jourdan, Eric ;
Kralovics, Robert ;
Hermouet, Sylvie ;
Lavabre-Bertrand, Thierry .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2011, 13 (03) :263-270
[5]   Classification of myeloproliferative disorders in the JAK2 era: is there a role for red cell mass? [J].
Cassinat, B. ;
Laguillier, C. ;
Gardin, C. ;
de Beco, V. ;
Burcheri, S. ;
Fenaux, P. ;
Chomienne, C. ;
Kiladjian, J-J .
LEUKEMIA, 2008, 22 (02) :452-453
[6]   Interferon Alfa Therapy in CALR-Mutated Essential Thrombocythemia [J].
Cassinat, Bruno ;
Verger, Emmanuelle ;
Kiladjian, Jean-Jacques .
NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (02) :188-189
[7]   Genetic and Epigenetic Complexity in Myeloproliferative Neoplasms [J].
Cross, Nicholas C. P. .
HEMATOLOGY-AMERICAN SOCIETY HEMATOLOGY EDUCATION PROGRAM, 2011, :208-214
[8]   An elevated venous haemoglobin concentration cannot be used as a surrogate marker for absolute erythrocytosis: a study of patients with polycythaemia vera and apparent polycythaemia [J].
Johansson, PL ;
Safai-Kutti, S ;
Kutti, J .
BRITISH JOURNAL OF HAEMATOLOGY, 2005, 129 (05) :701-705
[9]   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
[10]   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