Dominance of an UBA1 mutant clone over a CALR mutant clone: from essential thrombocytemia to VEXAS.

Not available.

Familial Essential Thrombocytemia : 6 cases from a mono-institutional series.

Essential thrombocythemia is chronic myeloproliferative neoplasia, as defined by WHO in 2016, with the best prognosis. A small percentage of ET cases can be considered Familial ET. In this report we describe 6 cases of Familial ET, evaluating the heterogeneity of the mutational state and the clinical presentation.

The Role of JAK2 in Myeloproliferative Diseases Diagnosis

Janus Kinase 2 (JAK2) plays an important role in mediating transduction signal of hematopoiesis, including in the pathogenesis of Myeloproliferative diseases (MPD). Various studies have been carried out to identify the position of aleles in tyrosine encoding mutations. Although the effect of JAK2 mutations is still not fully understood, the discovery of these mutations might be able to differentiate the types of polycythaemia vera, essential thrombocytemia, and primary myelofibrosis with malignant abnormalities. WHO has revised the MPD diagnosis criteria following this finding. This review will discuss the role of JAK2.

Acute ischemic stroke in the setting of essential thrombocytemia (clinical cases)

This article describes several clinical cases of acute ischemic stroke among patients suffering from essential thrombocytemia. Ambiguity of etiological factors of stroke is demonstrated among patients with this pathology. Thrombocytosis and high allele load in the Jak2 gene play an important role (even with normal platelet count) in progression of cerebrovascular disease. Also the question of effectiveness of preventive and etiological therapy is considered.