The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the "early" prepolycythemic phase of polycythemia vera and essential thrombocythemia

被引：50

作者：

Gianelli, Umberto ^{[1
]}

Lurlo, Alessandra ^{[2
]}

Vener, Claudia ^{[3
]}

Moro, Alessia ^{[1
]}

Fermo, Elisa ^{[2
]}

Bianchi, Paola ^{[2
]}

Graziani, Daniela ^{[1
]}

Radaelli, Franca ^{[2
]}

Coggi, Guido ^{[1
]}

Bosari, Silvano ^{[1
]}

Deliliers, Giorgio Lambertenghi ^{[3
]}

Zanella, Alberto ^{[2
]}

机构：

[1] Univ Milan, San Paolo Hosp, Dept Med Surg & Odontol, Pathol Unit, I-20142 Milan, Italy

[2] Policlin IRCCS Hosp, Mangiagalli & Regina Elena Fdn, Hematol Unit 2, Milan, Italy

[3] Univ Milan, IRCCS Osped Maggiore Policlin, Mangiagalli & Regina Elena Fdn, Hematol Bone Marrow Transplant Unit 1, I-20142 Milan, Italy

来源：

AMERICAN JOURNAL OF CLINICAL PATHOLOGY | 2008年 / 130卷 / 03期

关键词：

JAK2(V617F) mutation; polycythemia vera; essential thrombocythemia; early prepolycythemic polycythemia vera; bone marrow biopsy; differential diagnosis;

D O I：

10.1309/6BQ5K8LHVYAKUAF4

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

It has been suggested that polycythemia vera (PV) could be preceded by an "early" phase of the disease (e-P V), 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. Infact, 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 JAK2(V617F) 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.

引用

页码：336 / 342

页数：7

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