Somatic mutations of calreticulin in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms

Haematologica

Volumn 99, Issue 11, 2014, Pages 1650-1652

  Malcovati, Luca ^a   Rumi, Elisa ^a   Cazzola, Mario ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALRETICULIN; JANUS KINASE 2; RAS PROTEIN; THROMBOPOIETIN RECEPTOR;

ALLELE; ATYPICAL CHRONIC MYELOID LEUKEMIA; CHRONIC MYELOID LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; EDITORIAL; GENE; HUMAN; INTRACELLULAR SIGNALING; MYELOID METAPLASIA; MYELOPROLIFERATIVE NEOPLASM; POLYCYTHEMIA VERA; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; SOMATIC MUTATION; THROMBOCYTHEMIA; THROMBOCYTOSIS; GENETICS; MIXED MYELODYSPLASTIC MYELOPROLIFERATIVE DISEASE; MUTATION; MYELOPROLIFERATIVE DISORDER;

CALRETICULIN; HUMANS; MUTATION; MYELODYSPLASTIC-MYELOPROLIFERATIVE DISEASES; MYELOPROLIFERATIVE DISORDERS;

EID: 84908457975     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2014.113944     Document Type: Editorial

References (20)

1. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC, 2008.
2. Cazzola M, Malcovati L, Invernizzi R. Myelodysplastic/myeloproliferative neoplasms. Hematology Am Soc Hematol Educ Program. 2011;2011:264-72.
3. Cazzola M, Della Porta MG, Malcovati L. The genetic basis of myelodysplasia and its clinical relevance. Blood. 2013;122(25): 4021-34.
4. Cazzola M, Kralovics R. From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms. Blood. 2014;123(24):3714-9.
5. Loh ML. Childhood myelodysplastic syndrome: focus on the approach to diagnosis and treatment of juvenile myelomonocytic leukemia. Hematology Am Soc Hematol Educ Program. 2010;2010(1):357-62.
6. Itzykson R, Kosmider O, Renneville A, Gelsi-Boyer V, Meggendorfer M, Morabito M, et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol. 2013;31(19):2428-36.
7. Malcovati L, Della Porta MG, Pietra D, Boveri E, Pellagatti A, Galli A, et al. Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis. Blood. 2009;114(17):3538-45.
8. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi ED, Theil KS, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood. 2006;108(7):2173-81.
9. Broseus J, Florensa L, Zipperer E, Schnittger S, Malcovati L, Richebourg S, et al. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis. Haematologica. 2012;97(7):1036-41.
10. Malcovati L, Papaemmanuil E, Bowen DT, Boultwood J, Della Porta MG, Pascutto C, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118(24):6239-46.
11. Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013;369(25):2379-90.
12. Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013;369(25):2391-405.
13. Rumi E, Harutyunyan AS, Pietra D, Milosevic JD, Casetti IC, Bellini M, et al. CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis. Blood. 2014;123(15):2416-9.
14. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-90.
15. Rotunno G, Mannarelli C, Guglielmelli P, Pacilli A, Pancrazzi A, Pieri L, et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood. 2014;123(10):1552-5.
16. Rumi E, Pietra D, Pascutto C, Guglielmelli P, Martinez-Trillos A, Casetti I, et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood. 2014;124(7):1062-9.
17. Cabagnols X, Defour JP, Ugo V, Ianotto JC, Mossuz P, Mondet J, et al. Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution. Leukemia. 2014 Sep 19. [Epub ahead of print]
18. Andrikovics H, Krahling T, Balassa K, Halm G, Bors A, Koszarska M, et al. Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations. Haematologica. 2014;99(7):1184-90.
19. Li B, Xu J, Wang J, Gale RP, Xu Z, Cui Y, et al. Calreticulin mutations in Chinese with primary myelofibrosis. Haematologica; 2014:99 (11):1697-1700.
20. Fu R, Xuan M, Zhou Y, Sun T, Bai J, Cao Z, et al. Analysis of calreticulin mutations in Chinese patients with essential thrombocythemia: clinical implications in diagnosis, prognosis and treatment. Leukemia. 2014;28(9):1912-4.