Endogenous megakaryocytic colonies underline association between megakaryocytes and calreticulin mutations in essential thrombocythemia

Haematologica

Volumn 100, Issue 5, 2015, Pages e176-e178

  Mondet, Julie ^a,b   Park, Ji Hye ^c   Menard, Audrey ^d   Marzac, Christophe ^e,f   Carillo, Serge ^g,h   Pourcelot, Emmanuel ^a,b   Girodon, Francois ^c,i   Cabagnols, Xenia ^j,k   Lodé, Laurence ^d,l   Socoro, Nuria ^a,b   Chauvet, Martine ^b   Bulabois, Claude Eric ^b   Cony Makhoul, Pascale ^m   Corm, Selim ⁿ   Cahn, Jean Yves ^a,b   Mossuz, Pascal ^a,b  

^a UNIV GRENOBLE ALPES   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c DIJON UNIVERSITY HOSPITAL   (France)

^d HÔTEL DIEU   (France)

^e HÔPITAL SAINT ANTOINE   (France)

^f CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^g DEPARTMENT OF NEUROLOGY   (France)

^h UNIVERSITÉ DE MONTPELLIER   (France)

ⁱ Institut Médical de Génétique et d Immunologie   (France)

^j INSERM   (France)

^k Universite Paris Sud   (France)

^l HÔPITAL SAINT ELOI   (France)

^m Centre Hospitalier Annecy Genevois   (France)

ⁿ Centre Medipole de Savoie Challes les eaux   (France)

more..

Author keywords

Calreticulin mutations; Endogenous megakaryocytic colonies; Essential thrombocythemia; Megakaryocytes

Indexed keywords

CALRETICULIN;

ACUTE MEGAKARYOCYTIC LEUKEMIA; CELL PROLIFERATION; DEREGULATION; GENE MUTATION; GENE SEQUENCE; HEMATOPOIETIC STEM CELL; HUMAN; LETTER; MAJOR CLINICAL STUDY; MYELOPROLIFERATIVE NEOPLASM; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; THROMBOCYTHEMIA; ALLELE; ERYTHROPOIESIS; GENETIC ASSOCIATION; GENETICS; MEGAKARYOCYTE; METABOLISM; MUTATION; PHENOTYPE; THROMBOCYTE COUNT; THROMBOCYTHEMIA, ESSENTIAL; THROMBOCYTOPOIESIS;

ALLELES; CALRETICULIN; ERYTHROPOIESIS; GENETIC ASSOCIATION STUDIES; HUMANS; MEGAKARYOCYTES; MUTATION; PHENOTYPE; PLATELET COUNT; THROMBOCYTHEMIA, ESSENTIAL; THROMBOPOIESIS;

EID: 84929159925     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2014.118927     Document Type: Letter

References (15)

1. Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013; 369(25):2379-2390.
2. Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013;369(25):2391-2405.
3. Balduini A, Badalucco S, Pugliano MT, et al. In vitro megakaryocyte differentiation and proplatelet formation in Ph-negative classical myeloproliferative neoplasms: distinct patterns in the different clinical phenotypes. PLoS One. 2011;6(6):e21015.
4. Cazzola M, Kralovics R. From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms. Blood. 2014;123(24):3714-3719.
5. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005; 106(6):2162-2168.
6. Lippert E, Boissinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood. 2006;108(6):1865-1867.
7. Boyd EM, Bench AJ, Goday-Fernandez A, et al. Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. Br J Haematol. 2010; 149(2):250-257.
8. Dobo I, Donnard M, Girodon F, et al. Standardization and comparison of endogenous erythroid colony assays performed with bone marrow or blood progenitors for the diagnosis of polycythemia vera. Hematol J. 2004;5(2):161-167.
9. Dobo I, Boiret N, Lippert E, et al. A standardized endogenous megakaryocytic erythroid colony assay for the diagnosis of essential thrombocythemia. Haematologica. 2004;89(10):1207-1212.
10. Mi JQ, Blanc-Jouvan F, Wang J, et al. Endogenous megakaryocytic colony formation and thrombopoietin sensitivity of megakaryocytic progenitor cells are useful to distinguish between essential thrombocythemia and reactive thrombocytosis. J Hematother Stem Cell Res. 2001;10(3):405-409.
11. Rotunno G, Mannarelli C, Guglielmelli P, et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood. 2014;123(10):1552-1555.
12. Boissinot M, Lippert E, Girodon F, et al. Latent myeloproliferative disorder revealed by the JAK2-V617F mutation and endogenous megakaryocytic colonies in patients with splanchnic vein thrombosis. Blood. 2006;108(9):3223-3224.
13. Rumi E, Pietra D, Ferretti V et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014;123(10):1544-1551.
14. Broseus J, Park JH, Carillo S, Hermouet S, Girodon F. Presence of calreticulin mutations in JAK2-negative polycythemia vera. Blood. 2014;124(26):3964-3966.
15. Vannucchi AM, Rotunno G, Bartalucci N, et al. Calreticulin mutation-specific immunostaining in myeloproliferative neoplasms: pathogenetic insight and diagnostic value. Leukemia. 2014; 28(9):1811-1888.