Can affect the prognosis of essential thrombocytopenia?

Question

Hello doctor,

My preliminary diagnosis was essential thrombocythemia. They did genetic testing it showed JAK2 mutation (v617f) at about a 25 % allele burden. However, it also came back showing an IDH2 mutation. This tends to be found more in brain tumors and acute myeloid leukemia. The mutations found were R140 and R172, but mine showed as K67T. Can you tell me about this specific mutation in the IDH2 gene and how this might affect my prognosis?

Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

Thank you for your query.

Elevated platelets are seen in iron deficiency anemia, post-splenectomy, acute blood loss, multicentric castleman disease, CML, 5q syndrome, primary myelofibrosis, rheumatologic, inflammation, drug-induced, and very rarely, it could be a part of essential thrombocythemia. If all causes are excluded, get tested for JAK2, exon 12, and CALR mutations. These mutations are frequently negative even in primary thrombocytosis, also called essential thrombocythemia. In cases of secondary thrombocytosis, the treatment of elevated platelets is to treat the cause. In primary thrombocythemia, if JAK2 is negative, the treatment is cytoreductive therapy by hydroxyurea. The goal is to keep platelets below 1000. Thrombolytic drugs such as Aspirin, Clopidogrel, Warfarin, or Rivaroxaban are also a part of therapy. For JAK2-positive patients, Ruxolitinib tablets are given at a dose of 5 to 15 mg daily. Another option is IFN alpha in low doses (45 microgram per week) in both JAK2 positive or negative cases. CALR-positive cases show superior results in this mode. It could take years to cure the disease. This is not a life-threatening disease unless thromboembolism involves the heart, lungs, or brain. Sometimes, the first manifestation of the disease is a thromboembolic disease.

I hope this has helped. Thank you.