Polycythaemia vera (PV) is the most common myeloproliferative neoplasm, characterised by increased red cell mass that can present as an unspecified symptom or a thrombohaemorrhagic event. Its diagnosis is based on the presence of erythrocytosis, the identification of the Janus kinase 2 mutation and bone marrow aspirate or biopsy alterations. The challenge of this disease lies on the treatment approach. Its cornerstone is phlebotomy, but depending on the vascular risk, it can include cytoreductive agents, low-dose aspirin or even anticoagulation. We present the case of a 75-year-old woman, whose inaugural presentation of PV was an arterial peripheral occlusion followed by three recurrent events in the same arterial region and a pulmonary embolism. A phlebotomy was initially performed and, after the diagnosis was made, the patient was initiated on low-dose aspirin and anticoagulation with favourable outcome.
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http://dx.doi.org/10.1136/bcr-2016-218851 | DOI Listing |
Cureus
January 2025
Neurology, St. Luke's Medical Center, Quezon City, PHL.
[This corrects the article DOI: 10.7759/cureus.76294.
View Article and Find Full Text PDFBlood Adv
January 2025
Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Interferon alpha (IFNa) is approved for the therapy of patients (pts) with polycythemia vera (PV), a subtype of myeloproliferative neoplasms (MPN). Some pts achieve molecular responses (MR), but clonal factors sensitizing for MR remain elusive. We integrated colony formation and differentiation assays with single-cell RNA seq and genotyping in PV-derived cells vs.
View Article and Find Full Text PDFAm J Hematol
January 2025
CRIMM, Center Research and Innovation of Myeloproliferative Neoplasms, University of Florence, AOU Careggi, Florence, Italy.
The clinical relevance of TP53 mutations (TP53) in myeloproliferative neoplasms (MPN) and their prognostic interaction with MPN subtype designation has not been systematically studied. In the current study, 114 patients with MPN harboring TP53 (VAF ≥ 2%) were evaluated for overall survival (OS), calculated from the time of TP53 detection: chronic phase myelofibrosis (MF-CP; N = 61); blast-phase (MPN-BP; N = 31) or accelerated-phase (MPN-AP; N = 16) MPN, and polycythemia vera/essential thrombocythemia (PV/ET; N = 6). Sixty-five (57%) patients harbored International Consensus Classification (ICC)-defined multihit TP53 and 56 (49%) monosomal/complex karyotype (MK/CK).
View Article and Find Full Text PDFJAMA
January 2025
CRIMM, Center Research and Innovation of Myeloproliferative Neoplasms, University of Florence, AOU Careggi, Florence, Italy.
Importance: Essential thrombocythemia, a clonal myeloproliferative neoplasm with excessive platelet production, is associated with an increased risk of thrombosis and bleeding. The annual incidence rate of essential thrombocythemia in the US is 1.5/100 000 persons.
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