The analysis of a Puerto Rican cohort of Essential Thrombocytemia patients

Abstract

Abstract Essential Thrombocytemia (ET) disorder, part of the group of myeloproliferative disorders, has been related to acquired mutations that constitutively activate the JAK2 pathway, accordingly JAK2V617F is present in the 56% of ET patients. ET decreases life expectancy and its effects are detrimental on the mid-fifties population, therefore, it is important to understand and devise methods to improve its treatment. For this reason, we completed a comparative analysis of 37 different cytokines in a cohort of 23 Puerto Rican ET patients and 11 controls. Using Mann Whitney comparative analysis between the status of the JAK2V617F mutation and cytokine profiles have revealed that JAK2V617F positive patients have a significantly higher median values of IL-19 (ET: 6.48 pg/ml; control: 5.13 pg/ml, p-value: 0.0076), Il-28/IFNλ2 (ET: 3.76 pg/ml; control: 2.79 pg/ml, p-value: 0.0422) and IL-29/IFNλ1 (ET: 14.47 pg/ml; control: 10.3 pg/ml, p-value: 0.0332) when compared with healthy controls. TWEAK TNFSF12 (ET: 40.05 pg/ml; control: 47.77 pg/ml, p-value: 0.0437), however was significantly lower in this population. Also, we have found that JAK2V617F negative patients have significantly higher levels of IFN-α2 (ET: 14.82 pg/ml; control: 12.53 pg/ml p-value: 0.0096), IL-8 (ET: 6.93 pg/ml; control: 6.33 pg/ml, p-value: 0.0316), and IL-22 (ET: 7.865 pg/ml; control: 6.23 pg/ml, p-value: 0.0087) than control patients. Moreover, we have found that ET CALR mutants have significantly lower median levels of MPP-3 and that ET patients have higher TLT-1 levels than control patients. Together these findings could be used to enhance the characterization and improve prognosis and treatment of ET patients.