Abstract
Essential thrombocythemia is a myeloproliferative neoplasm characterized by thrombocytosis and possible complications such as thrombosis, hemorrhage, splenomegaly, bone marrow failure and acute leukemia. In the myeloproliferatives neoplasms, there is an increase number of dysplastic megakaryocytes, known as micromegakaryocytes and there is an association between the high expression of the JAK2V617F mutation and the presence of micromegakaryocytes in bone marrow. To date, reports and researches involving essential thrombocythemia and micromegakaryocytes are exceedingly scarce. We report a peculiar and unique case of a death of a 55-year-old man, due to stroke and carotid thrombosis, preceded by successive thrombotic events in a patient with essential thrombocythemia, JAK2 positive, with no additional risk factor, who did not respond well to standard treatment and had a high amount of circulating micromegakaryocytes in peripheral blood. This case goes beyond the known prognosis of ET and raises the discussion of new prognostic markers, such as the quantification of micromegakaryocytes and reaffirms the importance of the JAK2 mutation in the evolution of the disease. We also discuss the involvement of micromegakaryocytes in the probable mechanisms leading to our patient’s thrombotic state.
Highlights
Essential Thrombocythemia (ET) is a Myeloproliferative Neoplasm (MPN) characterized by thrombocytosis and, like others MPNs, has complications such as thrombosis, hemorrhage, splenomegaly, bone marrow failure and a possible course to acute leukemia [1]
In a study conducted by Pich, it was found that the high expression of the JAK2V617F mutation in patients with ET is associated with a higher presence of mMK in bone marrow biopsies [6]
Hitherto it is unusual for a case to report so many thrombotic events in the same patient with ET and /or to relate them to the high amount of mMK in peripheral blood
Summary
Essential Thrombocythemia (ET) is a Myeloproliferative Neoplasm (MPN) characterized by thrombocytosis and, like others MPNs, has complications such as thrombosis, hemorrhage, splenomegaly, bone marrow failure and a possible course to acute leukemia [1]. In a study conducted by Pich, it was found that the high expression of the JAK2V617F mutation in patients with ET is associated with a higher presence of mMK in bone marrow biopsies [6]. The patient's diagnosis complies with the WHO criteria, which are based on clinical and laboratory characteristics [7] In July 2016, another BMB confirmed the myeloproliferative disease, type ET, with mild fibrosis (grade 1) It was excluded other myeloid malignancies and other causes of reactive thrombocytosis. In February 2017, the patient was recruited for a quantification study of mMK in peripheral blood using flow cytometry (Figure 2) and almost 7 times the amount of these cells was observed compared to a healthy person [8]. The patient died in June 2017 after an ischemic stroke associated with carotid thrombosis
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