Case Reports in Hematology, 2014 Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients—father and daughter—with essential thrombocythemia who displayed a heterogeneous ...
Adrian P. Trifa +2 more
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Essential thrombocythemia: a rare disease in childhood
Revista Brasileira de Hematologia e Hemoterapia, 2013 Essential thrombocythemia is an acquired myeloproliferative disorder characterized by the proliferation of megakaryocytes in bone marrow, leading to a persistent increase in the number of circulating platelets and thus increasing the risk for thrombotic ...
Julia Maimone Beatrice +1 more
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First successful pregnancy outcome after intrauterine insemination in a woman with primary infertility and essential thrombocythemia treated with interferon-alpha and aspirin [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2015 Introduction. The management of pregnancy in young women with essential thrombocythemia is complex and may present a difficult problem. An adverse pregnancy outcome due to thrombosis or bleeding is a common complication.
Leković Danijela +2 more
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A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations
Haematologica, 2012 Germline mutations of the CHEK2 gene have been reported in some myeloid and lymphoid malignancies, but their impact on development of essential thrombocythemia has not been studied.
Hanna Janiszewska +10 more
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Severe Case of Peripheral Leukocytosis Initially Diagnosed as Myelodysplastic Syndrome/Myeloproliferative Neoplasm, Unclassifiable, but Possibly Prefibrotic Primary Myelofibrosis [PDF]
, 2014 Leukocytosis is occasionally seen in patients with presumptive but undiagnosed myeloproliferative disorders (MPD). A 74-year-old woman was admitted to our hospital for tarry stools, anemia, and marked peripheral leukocytosis of 1.4×105/μL ...
Hiramatsu, Yasushi +8 more
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Haematologica, 2019 Although it is well known that myeloproliferative neoplasms occur in younger patients, few large cohorts of such patients have been reported. Thus, our knowledge about circumstances of diagnosis, outcome and treatment is limited, especially for children ...
Jean-Christophe Ianotto +5 more
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Ruxolitinib in the treatment of polycythemia vera: patient selection and special considerations. [PDF]
, 2016 The discovery of JAK2 V617F mutation in the mid-2000s started to fill the gap between clinical presentation of polycythemia vera (PV), first described by Vaquez at the end of the 19th century, and spontaneous erythroid colony formation, reported by ...
Alberio, L., Blum, S., Martins, F.
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Haematologica, 2013 Subclones homozygous for JAK2V617F are more common and larger in patients with polycythemia vera compared to essential thrombocythemia, but their role in determining phenotype remains unclear.
Anna L. Godfrey +5 more
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Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage. [PDF]
, 2018 Somatic mutations in the endoplasmic reticulum chaperone calreticulin (CALR) are detected in approximately 40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF).
Aungier, Juliet +17 more
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Acquired von Willebrand disease as a cause of recurrent mucocutaneous bleeding in primary thrombocythemia: Relationship with platelet count [PDF]
, 1994 We present a 4-year follow-up of a 42-year-old patient with primary thrombocythemia whose clinical course was complicated by two major mucocutaneous bleeding episodes.
Genderen, P.J.J. (Perry) van +3 more
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