TY - JOUR
T1 - Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis
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.
PY - 2007/8/15
Y1 - 2007/8/15
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.
AB - 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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U2 - 10.1182/blood-2007-04-083501
DO - 10.1182/blood-2007-04-083501
M3 - Review article
C2 - 17488875
AN - SCOPUS:34548042964
SN - 0006-4971
VL - 110
SP - 1092
EP - 1097
JO - Blood
JF - Blood
IS - 4
ER -