Calreticulin exon 9 mutations in myeloproliferative neoplasms

Annals of Laboratory Medicine

Volumn 35, Issue 1, 2015, Pages 22-27

  Ha, Jung Sook ^a   Kim, Yu Kyung ^b  

^a Keimyung University School of Medicine   (South Korea)

^b Yeungnam University College of Medicine   (South Korea)

Author keywords

Calreticulin; JAK2; MPL; Myeloproliferative neoplasm

Indexed keywords

CALRETICULIN; JAK2 PROTEIN, HUMAN; JANUS KINASE 2; MPL PROTEIN, HUMAN; THROMBOPOIETIN RECEPTOR;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; EXON; FEMALE; GENETICS; HUMAN; LEUKOCYTE COUNT; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; MYELOPROLIFERATIVE DISORDERS; NUCLEOTIDE SEQUENCE; PATHOLOGY; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; BASE SEQUENCE; CALRETICULIN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; JANUS KINASE 2; LEUKOCYTE COUNT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYELOPROLIFERATIVE DISORDERS; RECEPTORS, THROMBOPOIETIN; YOUNG ADULT;

EID: 84920528539     PISSN: 22343806     EISSN: 22343814     Source Type: Journal    
DOI: 10.3343/alm.2015.35.1.22     Document Type: Article

References (14)

1. 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;352:1779-90.
2. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006;3:e270.
3. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 2010;24:1128-38.
4. 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;369:2379-90.
5. Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmu-tated JAK2. N Engl J Med 2013;369:2391-405.
6. Coppolino MG, Woodside MJ, Demaurex N, Grinstein S, St-Arnaud R, Dedhar S. Calreticulin is essential for integrin-mediated calcium signalling and cell adhesion. Nature 1997;386:843-7.
7. Tefferi A, Lasho TL, Finke CM, Knudson RA, Ketterling R, Hanson CH, et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. Leukemia 2014;28:1472-7.
8. Lundberg P, Karow A, Nienhold R, Looser R, Hao-Shen H, Nissen I, et al. Clonal evolution and clinical correlates of somatic mutations in my-eloproliferative neoplasms. Blood 2014;123:2220-8.
9. Rotunno G, Mannarelli C, Guglielmelli P, Pacilli A, Pancrazzi A, Pieri L, et al. Impact of calreticulin mutations on clinical and hematological phe-notype and outcome in essential thrombocythemia. Blood 2014;123:1552-5.
10. Rumi E, Pietra D, Ferretti V, Klampfl T, Harutyunyan AS, Milosevic JD, et al. JAK2 or CALR mutation status defines subtypes of essential throm-bocythemia with substantially different clinical course and outcomes. Blood 2014;123:1544-51.
11. Li B, Xu J, Wang J, Gale R P, Xu Z, Cui Y, et al. Calreticulin mutations in Chinese with primary myelofibrosis. Haematologica 2014. pii: haema-tol.2014.109249. [Epub ahead of print]
12. Patnaik MM, Belachew A, Finke C, Lasho TL, Hanson CA, Tefferi A. CALR mutations are infrequent in WHO-defined refractory anemia with ring sideroblasts. Leukemia 2014;28:1370-1.
13. Vannucchi AM, Rotunno G, Bartalucci N, Raugei G, Carrai V, Balliu M, et al. Calreticulin mutation-specific immunostaining in myeloproliferative neoplasms: pathogenetic insight and diagnostic value. Leukemia 2014; 28:1811-8.
14. Tefferi A, Guglielmelli P, Lasho TL, Rotunno G, Finke C, Mannarelli C, et al. CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis: an international study of 570 patients. Leukemia 2014;28:1494-500.