The genetics of MPNs

Mutational stratification in MPNS

Driver mutations play an increasingly important role in myeloproliferative neoplasm diagnosis and management. Did you know, you can classify multiple patient subtypes based on their mutational status? In this video, Professor Jean-Jacques Kiladjian discusses the recent studies that suggest patients can be divided into subtypes based on their mutational status for JAK2V617F, CALR or MPL.1, 2, 3

1.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.
2.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.
3.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(10):1544-51.