title: The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the "early" prepolycythemic phase of polycythemia vera and essential thrombocythemia.
abstract: It has been suggested that polycythemia vera (PV) could be preceded by an "early" phase of the disease (e-PV), in which the increase in the red cell parameters is lower than required for a PV diagnosis. In this study, we compared the clinicopathologic and molecular features of 17 patients with e-PV with those of 14 patients with essential thrombocythemia (ET) and 19 with PV. The results for e-PV were more similar to those for PV than for ET. In fact, patients with e-PV were characterized by an increase in the red cell parameters, splenomegaly (P<.05), and hepatomegaly (P=.038), together with hypercellular bone marrow due to increased erythropoiesis and granulopoiesis, associated with megakaryocytic hyperplasia, with pleomorphic aggregates (P<.001). The frequency of the JAK2V617F mutation was similar in e-PV (16 cases tested [100%]) and PV (18/19 [95%]) but was significantly lower (7/13 [54%]) in ET (P=.0007). We propose a diagnostic algorithm helpful to distinguish ET from the early prepolycythemic phase of PV.
authors.affiliation: Pathology Unit, Department of Medicine, Surgery, and Odontology, University of Milan, San Paolo Hospital, Milan, Italy.
authors.forename: Umberto
authors.initials: U
authors.lastname: Gianelli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Iurlo
authors.forename: Claudia
authors.initials: C
authors.lastname: Vener
authors.forename: Alessia
authors.initials: A
authors.lastname: Moro
authors.forename: Elisa
authors.initials: E
authors.lastname: Fermo
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
authors.forename: Daniela
authors.initials: D
authors.lastname: Graziani
authors.forename: Franca
authors.initials: F
authors.lastname: Radaelli
authors.forename: Guido
authors.initials: G
authors.lastname: Coggi
authors.forename: Silvano
authors.initials: S
authors.lastname: Bosari
authors.forename: Giorgio Lambertenghi
authors.initials: GL
authors.lastname: Deliliers
authors.forename: Alberto
authors.initials: A
authors.lastname: Zanella
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000465:Algorithms; D001853:Bone Marrow / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011087:Polycythemia Vera / Q000175:diagnosis*; D012189:Retrospective Studies; D013920:Thrombocythemia, Essential / Q000175:diagnosis*
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2