Polycythemia vera historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2] Shyam Patel [3]
Overview
In 2005, a mutation in the JAK2 kinase (V617F) was found in multiple patients with myeloprolifrative neoplasm (including polycythemia vera) by different researchers.[1]
Historical Perspective
- In 1892, Louis Henry Vaquez first described polycythemia vera as a disorder of hematopoietic hyperactivity.[2]
- In 1903, Sir William Olser reinforced the concept of polycythemia vera.[2]
- In 1953, William Dameshek described myeloproliferative neoplasms as a group of disorders including polycythemia vera, essential thrombocythemia, and myelofibrosis.[2] He postulated that polycythemia vera variably reflected bone marrow proliferative activity from an unidentified stimulus.
- In 2005, multiple groups including those led by William Vainchenker, Ross Levine, Robert Kralovics, and Tony Green first described the JAK2 V617F mutation (in exon 14 of the JAK2 gene) in polycythemia vera.[2][1]
- In 2008, the World Health Organization (WHO) developed a classification for myeloproliferative neoplasms, including polycythemia vera. This classification included the JAK2 V617F mutation (or JAK2 exon 12 mutations) as criteria required for the diagnosis.[2]
- In 2016, the WHO revised the classification scheme and diagnostic criteria for polycythemia vera. The diagnostic criteria now includes hemoglobin greater than 16.5 g/dl in men and 16 g/dl in women, bone marrow biopsy showing hypercellularity in all 3 cell lines, and the presence of a JAK2 mutation (either V617F in exon 14 or a mutation in exon 12). These constitute the major criteria. The minor criteria is a subnormal erythropoietin level.
References
- ↑ 1.0 1.1 Gäbler K, Behrmann I, Haan C (2013). "JAK2 mutants (e.g., JAK2V617F) and their importance as drug targets in myeloproliferative neoplasms". JAKSTAT. 2 (3): e25025. doi:10.4161/jkst.25025. PMC 3772115. PMID 24069563.
- ↑ 2.0 2.1 2.2 2.3 2.4 Vannucchi AM (2017). "From leeches to personalized medicine: evolving concepts in the management of polycythemia vera". Haematologica. 102 (1): 18–29. doi:10.3324/haematol.2015.129155. PMC 5210229. PMID 27884974.