Project description:Acute coronary syndromes (ACS) usually occur in patients with multiple cardiac risk factors. In young adults, drug use and hypercoagulable states are common causes for ACS presentations. We report a case of a man in his early 30s who was diagnosed with polycythemia vera (PV) and had a cardiac arrest due to an anterolateral ST elevation myocardial infarction. We discuss his unique management and review the evidence on the management of arterial thromboembolism in PV patients.

| S-EPMC6362489 | biostudies-literature

Generalized Chorea Due to Secondary Polycythemia Responding to Phlebotomy.

Project description: Not available

| S-EPMC7840239 | biostudies-literature

A Polycythemia Vera JAK2 Mutation Masquerading as a Duodenal Cancer Mutation.

Project description:Next-generation sequencing (NGS) is increasingly being used in cancer care to identify both somatic tumor driver mutations that can be targeted for therapy, and heritable mutations in the germline associated with increased cancer risk. This report presents a case of a JAK2 V617F mutation falsely identified as a duodenal cancer mutation via NGS. The patient was found to have a history of polycythemia vera, a disorder with a high incidence of JAK2 somatic mutations. Buccal cell DNA showed heterozygosity for the mutation, suggesting that it was potentially germline. However, subsequent resequencing of tumor, adjacent normal tissue, and fingernail DNA confirmed the mutation was somatic, and its presence in tumor and buccal cells resulted from contaminating blood cells. This report highlights important nuances of NGS that can lead to misinterpretation of results with potential clinical implications.

| S-EPMC7385920 | biostudies-literature

Late-Onset Chorea in <i>JAK2</i>-Associated Essential Thrombocythemia.

Project description: Not available

| S-EPMC7780952 | biostudies-literature

The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera.

Project description: Not available

| S-EPMC4532371 | biostudies-literature

Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.

Project description: Not available

| S-EPMC5095759 | biostudies-literature

Combination Therapy With Pulmonary Vasodilatation and JAK2 Inhibition for Pulmonary Hypertension With Polycythemia Vera.

Project description: Not available

| S-EPMC9869346 | biostudies-literature

Efficacious intermittent dosing of a novel JAK2 inhibitor in mouse models of polycythemia vera.

Project description:A high percentage of patients with the myeloproliferative disorder polycythemia vera (PV) harbor a Val617→Phe activating mutation in the Janus kinase 2 (JAK2) gene, and both cell culture and mouse models have established a functional role for this mutation in the development of this disease. We describe the properties of MRLB-11055, a highly potent inhibitor of both the WT and V617F forms of JAK2, that has therapeutic efficacy in erythropoietin (EPO)-driven and JAK2V617F-driven mouse models of PV. In cultured cells, MRLB-11055 blocked proliferation and induced apoptosis in a manner consistent with JAK2 pathway inhibition. MRLB-11055 effectively prevented EPO-induced STAT5 activation in the peripheral blood of acutely dosed mice, and could prevent EPO-induced splenomegaly and erythrocytosis in chronically dosed mice. In a bone marrow reconstituted JAK2V617F-luciferase murine PV model, MRLB-11055 rapidly reduced the burden of JAK2V617F-expressing cells from both the spleen and the bone marrow. Using real-time in vivo imaging, we examined the kinetics of disease regression and resurgence, enabling the development of an intermittent dosing schedule that achieved significant reductions in both erythroid and myeloid populations with minimal impact on lymphoid cells. Our studies provide a rationale for the use of non-continuous treatment to provide optimal therapy for PV patients.

| S-EPMC3356383 | biostudies-literature

Genetic Knock-out of TNFR1 and TNFR2 in a JAK2-V617F Polycythemia Vera Mouse Model.

Project description: Not available

| S-EPMC9015207 | biostudies-literature