Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera

Davide Rossi; Francesca Cortini; Clara Deambrogi; Caterina Barbieri; Michaela Cerri; Silvia Franceschetti; Annarita Conconi; Daniela Capello; Gianluca Gaidano

doi:10.1016/j.leukres.2006.02.027

Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera

Davide Rossi, Francesca Cortini, Clara Deambrogi, Caterina Barbieri, Michaela Cerri, Silvia Franceschetti, Annarita Conconi, Daniela Capello, Gianluca Gaidano

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

Idiopathic erythrocytosis (IE) is a primary erythrocytosis not fulfilling the criteria for polycythemia vera (PV) diagnosis. In order to verify the relationship between IE and PV, we screened JAK2V617F mutation in a consecutive series of 11 IE and, for comparison, in 15 PV. JAK2V617F mutation was screened by both cDNA sequencing and mutation specific PCR in both peripheral blood and bone marrow samples. All 11 IE tested negative for JAK2V617F mutation, which, conversely, occurred in 11/15 (73.3%) PV. Our results demonstrate that JAK2V617F is absent in IE and may represent a useful molecular marker for distinguishing IE from PV.

Original language	English
Pages (from-to)	97-101
Number of pages	5
Journal	Leukemia Research
Volume	31
Issue number	1
DOIs	https://doi.org/10.1016/j.leukres.2006.02.027
Publication status	Published - Jan 2007

Keywords

Chronic myeloproliferative disorders
Idiopathic erythrocytosis
JAK2
Polycythemia vera
Primary erythrocytosis

ASJC Scopus subject areas

Cancer Research
Hematology
Oncology

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Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera. / Rossi, Davide; Cortini, Francesca; Deambrogi, Clara; Barbieri, Caterina; Cerri, Michaela; Franceschetti, Silvia; Conconi, Annarita; Capello, Daniela; Gaidano, Gianluca.

In: Leukemia Research, Vol. 31, No. 1, 01.2007, p. 97-101.

Research output: Contribution to journal › Article › peer-review

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abstract = "Idiopathic erythrocytosis (IE) is a primary erythrocytosis not fulfilling the criteria for polycythemia vera (PV) diagnosis. In order to verify the relationship between IE and PV, we screened JAK2V617F mutation in a consecutive series of 11 IE and, for comparison, in 15 PV. JAK2V617F mutation was screened by both cDNA sequencing and mutation specific PCR in both peripheral blood and bone marrow samples. All 11 IE tested negative for JAK2V617F mutation, which, conversely, occurred in 11/15 (73.3%) PV. Our results demonstrate that JAK2V617F is absent in IE and may represent a useful molecular marker for distinguishing IE from PV.",

keywords = "Chronic myeloproliferative disorders, Idiopathic erythrocytosis, JAK2, Polycythemia vera, Primary erythrocytosis",

author = "Davide Rossi and Francesca Cortini and Clara Deambrogi and Caterina Barbieri and Michaela Cerri and Silvia Franceschetti and Annarita Conconi and Daniela Capello and Gianluca Gaidano",

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AU - Rossi, Davide

AU - Cortini, Francesca

AU - Deambrogi, Clara

AU - Barbieri, Caterina

AU - Cerri, Michaela

AU - Franceschetti, Silvia

AU - Conconi, Annarita

AU - Capello, Daniela

AU - Gaidano, Gianluca

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AB - Idiopathic erythrocytosis (IE) is a primary erythrocytosis not fulfilling the criteria for polycythemia vera (PV) diagnosis. In order to verify the relationship between IE and PV, we screened JAK2V617F mutation in a consecutive series of 11 IE and, for comparison, in 15 PV. JAK2V617F mutation was screened by both cDNA sequencing and mutation specific PCR in both peripheral blood and bone marrow samples. All 11 IE tested negative for JAK2V617F mutation, which, conversely, occurred in 11/15 (73.3%) PV. Our results demonstrate that JAK2V617F is absent in IE and may represent a useful molecular marker for distinguishing IE from PV.

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