Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis

Recommendations from an ad hoc international expert panel

Ayalew Tefferi, Juergen Thiele, Attilio Orazi, Hans Michael Kvasnicka, Tiziano Barbui, Curtis A. Hanson, Giovanni Barosi, Srdan Verstovsek, Gunnar Birgegard, Ruben Mesa, John T. Reilly, Heinz Gisslinger, Alessandro M. Vannucchi, Francisco Cervantes, Guido Finazzi, Ronald Hoffman, D. Gary Gilliland, Clara D. Bloomfield, James W. Vardiman

Research output: Contribution to journalArticle

708 Citations (Scopus)

Abstract

The Janus kinase 2 mutation, JAK2617V>F, is myeloid neoplasm-specific; its presence excludes secondary polycythemia, thrombocytosis, or bone marrow fibrosis from other causes. Furthermore, JAK2617V>F or a JAK2 exon 12 mutation is present in virtually all patients with polycythemia vera (PV), whereas JAK2617V>F also occurs in approximately half of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Therefore, JAK2 mutation screening holds the promise of a decisive diagnostic test in PV while being complementary to histology for the diagnosis of ET and PMF; the combination of molecular testing and histologic review should also facilitate diagnosis of ET associated with borderline thrombocytosis. Accordingly, revision of the current World Health Organization (WHO) diagnostic criteria for PV, ET, and PMF is warranted; JAK2 mutation analysis should be listed as a major criterion for PV diagnosis, and the platelet count threshold for ET diagnosis can be lowered from 600 to 450 × 109/L. The current document was prepared by an international expert panel of pathologists and clinical investigators in myeloproliferative disorders; it was subsequently presented to members of the Clinical Advisory Committee for the revision of the WHO Classification of Myeloid Neoplasms, who endorsed the document and recommended its adoption by the WHO.

Original languageEnglish
Pages (from-to)1092-1097
Number of pages6
JournalBlood
Volume110
Issue number4
DOIs
Publication statusPublished - Aug 15 2007

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Essential Thrombocythemia
Polycythemia Vera
Primary Myelofibrosis
Health
Thrombocytosis
Mutation
Janus Kinase 2
Histology
Platelets
Myeloproliferative Disorders
Polycythemia
Exons
Advisory Committees
Screening
Bone
Platelet Count
Routine Diagnostic Tests
Neoplasms
Research Personnel
Testing

ASJC Scopus subject areas

  • Hematology

Cite this

Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis : Recommendations from an ad hoc international expert panel. / Tefferi, Ayalew; Thiele, Juergen; Orazi, Attilio; Kvasnicka, Hans Michael; Barbui, Tiziano; Hanson, Curtis A.; Barosi, Giovanni; Verstovsek, Srdan; Birgegard, Gunnar; Mesa, Ruben; Reilly, John T.; Gisslinger, Heinz; Vannucchi, Alessandro M.; Cervantes, Francisco; Finazzi, Guido; Hoffman, Ronald; Gilliland, D. Gary; Bloomfield, Clara D.; Vardiman, James W.

In: Blood, Vol. 110, No. 4, 15.08.2007, p. 1092-1097.

Research output: Contribution to journalArticle

Tefferi, A, Thiele, J, Orazi, A, Kvasnicka, HM, Barbui, T, Hanson, CA, Barosi, G, Verstovsek, S, Birgegard, G, Mesa, R, Reilly, JT, Gisslinger, H, Vannucchi, AM, Cervantes, F, Finazzi, G, Hoffman, R, Gilliland, DG, Bloomfield, CD & Vardiman, JW 2007, 'Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: Recommendations from an ad hoc international expert panel', Blood, vol. 110, no. 4, pp. 1092-1097. https://doi.org/10.1182/blood-2007-04-083501
Tefferi, Ayalew ; Thiele, Juergen ; Orazi, Attilio ; Kvasnicka, Hans Michael ; Barbui, Tiziano ; Hanson, Curtis A. ; Barosi, Giovanni ; Verstovsek, Srdan ; Birgegard, Gunnar ; Mesa, Ruben ; Reilly, John T. ; Gisslinger, Heinz ; Vannucchi, Alessandro M. ; Cervantes, Francisco ; Finazzi, Guido ; Hoffman, Ronald ; Gilliland, D. Gary ; Bloomfield, Clara D. ; Vardiman, James W. / Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis : Recommendations from an ad hoc international expert panel. In: Blood. 2007 ; Vol. 110, No. 4. pp. 1092-1097.
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abstract = "The Janus kinase 2 mutation, JAK2617V>F, is myeloid neoplasm-specific; its presence excludes secondary polycythemia, thrombocytosis, or bone marrow fibrosis from other causes. Furthermore, JAK2617V>F or a JAK2 exon 12 mutation is present in virtually all patients with polycythemia vera (PV), whereas JAK2617V>F also occurs in approximately half of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Therefore, JAK2 mutation screening holds the promise of a decisive diagnostic test in PV while being complementary to histology for the diagnosis of ET and PMF; the combination of molecular testing and histologic review should also facilitate diagnosis of ET associated with borderline thrombocytosis. Accordingly, revision of the current World Health Organization (WHO) diagnostic criteria for PV, ET, and PMF is warranted; JAK2 mutation analysis should be listed as a major criterion for PV diagnosis, and the platelet count threshold for ET diagnosis can be lowered from 600 to 450 × 109/L. The current document was prepared by an international expert panel of pathologists and clinical investigators in myeloproliferative disorders; it was subsequently presented to members of the Clinical Advisory Committee for the revision of the WHO Classification of Myeloid Neoplasms, who endorsed the document and recommended its adoption by the WHO.",
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T2 - Recommendations from an ad hoc international expert panel

AU - Tefferi, Ayalew

AU - Thiele, Juergen

AU - Orazi, Attilio

AU - Kvasnicka, Hans Michael

AU - Barbui, Tiziano

AU - Hanson, Curtis A.

AU - Barosi, Giovanni

AU - Verstovsek, Srdan

AU - Birgegard, Gunnar

AU - Mesa, Ruben

AU - Reilly, John T.

AU - Gisslinger, Heinz

AU - Vannucchi, Alessandro M.

AU - Cervantes, Francisco

AU - Finazzi, Guido

AU - Hoffman, Ronald

AU - Gilliland, D. Gary

AU - Bloomfield, Clara D.

AU - Vardiman, James W.

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N2 - The Janus kinase 2 mutation, JAK2617V>F, is myeloid neoplasm-specific; its presence excludes secondary polycythemia, thrombocytosis, or bone marrow fibrosis from other causes. Furthermore, JAK2617V>F or a JAK2 exon 12 mutation is present in virtually all patients with polycythemia vera (PV), whereas JAK2617V>F also occurs in approximately half of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Therefore, JAK2 mutation screening holds the promise of a decisive diagnostic test in PV while being complementary to histology for the diagnosis of ET and PMF; the combination of molecular testing and histologic review should also facilitate diagnosis of ET associated with borderline thrombocytosis. Accordingly, revision of the current World Health Organization (WHO) diagnostic criteria for PV, ET, and PMF is warranted; JAK2 mutation analysis should be listed as a major criterion for PV diagnosis, and the platelet count threshold for ET diagnosis can be lowered from 600 to 450 × 109/L. The current document was prepared by an international expert panel of pathologists and clinical investigators in myeloproliferative disorders; it was subsequently presented to members of the Clinical Advisory Committee for the revision of the WHO Classification of Myeloid Neoplasms, who endorsed the document and recommended its adoption by the WHO.

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