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Although the presence of D816V mutations is important at diagnosis for systemic mastocytosis, a minority of patients harbor mutations on exon 17 or other exons (102) Additionally; TET2, ASXL1, RUX1, SRSF2, and JAK2 mutations can be seen on the patients with mastocytosis (103,104).
JAK2 mutation analysis can be used to differentiate between polycythemia vera and secondary polycythemia in most cases with near certainty, where it was found in 100% of the cases.
(7.) Carobbio A, Finazzi G, Guerini V, Spinelli O, Delaini F, Marchioli R, Borrelli G, Rambakh A, Barbui T: Leukocytosis is a risk factor for thrombosis in essential thrombocythemia: interaction with treatment, standard risk factors, and JAK2 mutation status.
The most common causes of thrombophilia in patients with BCS are JAK2 mutation positive myeloproliferative disorders (40%), followed by factor V Leiden (6.8-31.8%) mutation and prothrombin G20210A mutation (0-.64%).
A JAK2 mutation also shows up in people with polycythemia vera, which is marked by abnormal red blood cell growth.
Key Words: Polycythaemia, JAK2 mutation, erythropoietin.
A significant relationship between percentage of JAK2 mutant alleles and LAP expression was found; high LAP scores can predict JAK2 mutation. (16), (18), (19) LAP is a possible surrogate marker in MDS progression; (20) which extracellular signals affect LAP levels remains to be researched fully.
(6.) Kratz CP, Boll S, Kontny U, Schrappe M, Niemeyer CM, Stanulla M: Mutational screen reveals a novel JAK2 mutation, L.611S, in a child with acute lymphoblastic leukemia.
In 2008, the World Health Organization (WHO) revised the diagnostic criteria for PV, ET, and PMF to reflect the significance of the JAK2 mutation. (1)
Also, they pointed out that patients who inherited the JAK2 alteration were predisposed to acquiring another JAK2 mutation on the same DNA strand.
Clinically, like in previous studies,[sup] our CALR- mutated ET patients presented with younger age, lower Hb level, lower WBC count, and higher PLT count compared to patients with the JAK2 mutation. The two major CALR mutant types also displayed the same features compared to patients with the JAK2 mutation.
A total of 112 BM biopsies from patients with an initial diagnosis of Ph~ MPNs were analyzed for JAK2 mutation status.
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