Pathologic activation of thrombopoietin receptor and JAK2-STAT5 pathway by frameshift mutants of mouse calreticulin

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: 2379–2390.

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: 2391–2405.

Chachoua I, Pecquet C, El-Khoury M, Nivarthi H, Albu RI, Marty C et al. Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants. Blood 2015; e-pub ahead of print 14 December 2015; doi:10.1182/blood-2015-11-681932.

Marty C, Pecquet C, Nivarthi H, Elkhoury M, Chachoua I, Tulliez M et al. Calreticulin mutants in mice induce an MPL-dependent thrombocytosis with frequent progression to myelofibrosis. Blood 2015; e-pub ahead of print 25 November 2015; doi:10.1182/blood-2015-11-679571.

Michalak M, Corbett EF, Mesaeli N, Nakamura K, Opas M . Calreticulin: one protein, one gene, many functions. Biochem J 1999; 344: 281–292.

Kollmann K, Nangalia J, Warsch W, Quentmeier H, Bench A, Boyd E et al. MARIMO cells harbor a CALR mutation but are not dependent on JAK2/STAT5 signaling. Leukemia 2015; 29: 494–497.

Yoshida H, Kondo M, Ichihashi T, Hashimoto N, Inazawa J, Ohno R et al. A novel myeloid cell line, Marimo, derived from therapy-related acute myeloid leukemia during treatment of essential thrombocythemia: consistent chromosomal abnormalities and temporary C-MYC gene amplification. Cancer Genet Cytogenet 1998; 100: 21–24.

Staerk J, Defour JP, Pecquet C, Leroy E, Antoine-Poirel H, Brett I et al. Orientation-specific signalling by thrombopoietin receptor dimers. EMBO J 2011; 30: 4398–4413.

Kohlhuber F, Rogers NC, Watling D, Feng J, Guschin D, Briscoe J et al. A JAK1/JAK2 chimera can sustain alpha and gamma interferon responses. Mol Cell Biol 1997; 17: 695–706.

Cong L, Ran FA, Cox D, Lin S, Barretto R, Habib N et al. Multiplex genome engineering using CRISPR/Cas systems. Science 2013; 339: 819–823.

Mashiko D, Fujihara Y, Satouh Y, Miyata H, Isotani A, Ikawa M . Generation of mutant mice by pronuclear injection of circular plasmid expressing Cas9 and single guided RNA. Sci Rep 2013; 3: 3355.

Passamonti F, Caramazza D, Maffioli M . JAK inhibitor in CALR-mutant myelofibrosis. N Engl J Med 2014; 370: 1168–1169.

Guglielmelli P, Bartalucci N, Rotunno G, Vannucchi AM . Calreticulin: a new horizon for the testing and treatment of myeloproliferative neoplasms. Expert Rev Hematol 2014; 7: 423–425.

Nivarthi H, Chen D, Cleary C, Kubesova B, Bogner E, Vainchenker W et al. Thrombopoietin receptor is required for the oncogenic function of CALR mutants. Leukemia 2016; 30: 1759–1763.

Rumi E, Pietra D, Ferretti V, Klampfl T, Harutyunyan AS, Milosevic JD et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood 2014; 123: 1544–1551.