A refined diagnostic algorithm for polycythemia vera that incorporates mutation screening for JAK2 V617F

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Abstract

Historically, red cell mass (RCM) measurement has been promoted as an accurate indicator of the body's red cell content. Both the Polycythemia Vera Study Group and a committee sponsored by the World Health Organization have endorsed its inclusion in their diagnostic criteria without supporting evidence of diagnostic accuracy from a systematic study. Over the years, it has become evident that RCM measurement is a cumbersome and costly test and, as a result, it has been abandoned by many hematologists in practice. The recent discovery that a somatic JAK2-activating mutation, JAK2 V617F, is almost invariably associated with polycythemia vera further supports the use of diagnostic algorithms that are based on biologic parameters in place of traditional diagnostic criteria that are based on RCM measurement. Therefore, a contemporary approach to the diagnosis of polycythemia vera starts with peripheral blood mutation screening for JAK2 V617F as well as measurement of serum erythropoietin. The results of these tests, along with the clinical scenario, determine the need for further investigation, including bone marrow examination.

Original languageEnglish (US)
Pages (from-to)81-86
Number of pages6
JournalCurrent Hematologic Malignancy Reports
Volume1
Issue number2
DOIs
StatePublished - Apr 2006

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Erythrocyte Volume
Polycythemia Vera
Mutation
Bone Marrow Examination
Erythropoietin
Serum

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

Cite this

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title = "A refined diagnostic algorithm for polycythemia vera that incorporates mutation screening for JAK2 V617F",
abstract = "Historically, red cell mass (RCM) measurement has been promoted as an accurate indicator of the body's red cell content. Both the Polycythemia Vera Study Group and a committee sponsored by the World Health Organization have endorsed its inclusion in their diagnostic criteria without supporting evidence of diagnostic accuracy from a systematic study. Over the years, it has become evident that RCM measurement is a cumbersome and costly test and, as a result, it has been abandoned by many hematologists in practice. The recent discovery that a somatic JAK2-activating mutation, JAK2 V617F, is almost invariably associated with polycythemia vera further supports the use of diagnostic algorithms that are based on biologic parameters in place of traditional diagnostic criteria that are based on RCM measurement. Therefore, a contemporary approach to the diagnosis of polycythemia vera starts with peripheral blood mutation screening for JAK2 V617F as well as measurement of serum erythropoietin. The results of these tests, along with the clinical scenario, determine the need for further investigation, including bone marrow examination.",
author = "Ayalew Tefferi",
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