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

Dipartimento di Medicina Traslazionale

Risultato della ricerca: Contributo su rivista › Articolo in rivista › 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.

Lingua originale	Inglese
pagine (da-a)	97-101
Numero di pagine	5
Rivista	Leukemia Research
Volume	31
Numero di pubblicazione	1
DOI	https://doi.org/10.1016/j.leukres.2006.02.027
Stato di pubblicazione	Pubblicato - gen 2007

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10.1016/j.leukres.2006.02.027

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@article{cf43652111df412e9821471bd90cae54,

title = "Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera",

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",

note = "Funding Information: This study has been supported by Ricerca Sanitaria Finalizzata and Ricerca Scientifica Applicata, Regione Piemonte, Torino, Italy; Novara-AIL Onlus, Novara, Italy; and Fondazione “Piera Pietro Giovanni Ferrero”, Alba, Italy. ",

year = "2007",

month = jan,

doi = "10.1016/j.leukres.2006.02.027",

language = "English",

volume = "31",

pages = "97--101",

journal = "Leukemia Research",

issn = "0145-2126",

publisher = "Elsevier Ltd.",

number = "1",

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TY - JOUR

T1 - Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera

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

N1 - Funding Information: This study has been supported by Ricerca Sanitaria Finalizzata and Ricerca Scientifica Applicata, Regione Piemonte, Torino, Italy; Novara-AIL Onlus, Novara, Italy; and Fondazione “Piera Pietro Giovanni Ferrero”, Alba, Italy.

PY - 2007/1

Y1 - 2007/1

N2 - 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.

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.

KW - Chronic myeloproliferative disorders

KW - Idiopathic erythrocytosis

KW - JAK2

KW - Polycythemia vera

KW - Primary erythrocytosis

UR - https://www.scopus.com/pages/publications/33750743094

U2 - 10.1016/j.leukres.2006.02.027

DO - 10.1016/j.leukres.2006.02.027

M3 - Article

SN - 0145-2126

VL - 31

SP - 97

EP - 101

JO - Leukemia Research

JF - Leukemia Research

IS - 1

ER -

Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera

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