Polycythemia vera historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ifeoma Odukwe, M.D. [2] Mohamad Alkateb, MBBCh [3], Shyam Patel [4]

Overview

The first description of polycythemia vera dates back to the late 19th century. At that time, Louis Henry Vaquez and Sir William Osler were the first to describe this condition. Over the subsequent decades, the disease became better characterized. In the late 20th century, therapeutics were conceptualized, and it was found that hydroxyurea and interferon-alpha were effective in treating polycythemia vera. In 2005, a mutation in the JAK2 kinase (V617F) was found in multiple patients with myeloproliferative neoplasms (including polycythemia vera) by different researchers. The WHO developed diagnostic criteria for this condition in 2008. The WHO recently revised their criteria for the diagnosis of polycythemia vera in 2016.

Historical Perspective

The history of polycythemia vera is presented chronologically.

• In 1892, Louis Henry Vaquez first described polycythemia vera as a disorder of hematopoietic hyperactivity. He reported on a patient who had the polycythemia syndrome (elevated hemoglobin) without cardiopulmonary disease. Louis Henry Vasquez was the first person to suggest that the condition of elevated red blood cells could be divided into two categories:
  • Absolute erythrocytosis (due to elevated red blood cell mass)
  • Relative erythrocytosis (due to reduced plasma volume but not due to elevated red blood cell mass)

• In 1903, Sir William Olser reinforced the concept of polycythemia vera. He noted that in his clinical practice, patients with red blood cell elevation had a distinct clinical syndrome. He published a paper on these findings.

• In 1904, Wilhelm Turk, a Viennese physician, noted that all hematopoietic lineages, including white blood cells and platelets, were elevated in polycythemia vera. This suggested that polycythemia vera was not a condition exclusive to the erythroid lineage. This was the first suggestion that paved way for the idea that polycythemia vera was a disorder of the hematopoietic stem cell, as this cell gives rise to all lineages.

• In 1908, Sir William Osler described additional patients with polycythemia vera and wrote a second publication.

• In 1953, William Dameshek described myeloproliferative neoplasms as a group of disorders including polycythemia vera, essential thrombocythemia, and myelofibrosis. He postulated that polycythemia vera variably reflected bone marrow proliferative activity from an unidentified stimulus.

• From 1967 to 1997, the Polycythemia Vera Study Group created formal diagnostic criteria, brought to attention the value of therapeutic phlebotomy, and raised awareness about the use of hydroxyurea as a therapeutic intervention. Hydroxyurea was postulated to inhibit ribonucleotide reductase, which is necessary for cellular division and proliferation.

• In 1998, the anti-proliferative effects of interferon-alpha for polycythemia vera were described. Sustained hematologic responses by interferon-alpha were confirmed later via other studies.

• 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. This is a gene encoding the Janus kinase 2 protein, and the mutation is a point mutation that converts valine to phenylalanine.

• 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 a major criterion required for the diagnosis. The hemoglobin threshold for making a diagnosis of polycythemia vera was 18.5 g/dl in men and 16.5 g/dl in women. These hemoglobin values were deemed strong surrogate markers for an absolute increase in red blood cell mass, as hemoglobin is the main protein in red blood cells.

• 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 three cell lines (red blood cells, white blood cells, and platelets, 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

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