The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels

Melanie J Percy; Linda M Scott; Wendy N Erber; Claire N Harrison; John T Reilly; Frank G C Jones; Anthony R Green; Mary Frances McMullin

doi:10.3324/haematol.11643

The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels

Melanie J Percy, Linda M Scott, Wendy N Erber, Claire N Harrison, John T Reilly, Frank G C Jones, Anthony R Green, Mary Frances McMullin

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

74 Citations (Scopus)

Abstract

Idiopathic erythrocytosis (IE) is characterized by erythrocytosis in the absence of megakaryocytic or granulocytic hyperplasia, and is associated with variable serum erythropoietin (Epo) levels. Most patients with IE lack the JAK2 V617F mutation that occurs in the majority of polycythemia vera patients. Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. The aims of this study were to assess the prevalence of JAK2 exon 12 mutations in IE patients, and to determine the associated clinicopathological features.

Original language	English
Pages (from-to)	1607-1614
Number of pages	8
Journal	HAEMATOLOGICA
Volume	92
Issue number	12
DOIs	https://doi.org/10.3324/haematol.11643
Publication status	Published - Dec 2007

Keywords

Alleles
Amino Acid Substitution
Bone Marrow
Cohort Studies
Erythroid Precursor Cells
Erythropoietin
Exons
Great Britain
Humans
Ireland
Janus Kinase 2
Polycythemia
Polycythemia Vera
Prevalence

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title = "The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels",

abstract = "Idiopathic erythrocytosis (IE) is characterized by erythrocytosis in the absence of megakaryocytic or granulocytic hyperplasia, and is associated with variable serum erythropoietin (Epo) levels. Most patients with IE lack the JAK2 V617F mutation that occurs in the majority of polycythemia vera patients. Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. The aims of this study were to assess the prevalence of JAK2 exon 12 mutations in IE patients, and to determine the associated clinicopathological features.",

keywords = "Alleles, Amino Acid Substitution, Bone Marrow, Cohort Studies, Erythroid Precursor Cells, Erythropoietin, Exons, Great Britain, Humans, Ireland, Janus Kinase 2, Polycythemia, Polycythemia Vera, Prevalence",

author = "Percy, {Melanie J} and Scott, {Linda M} and Erber, {Wendy N} and Harrison, {Claire N} and Reilly, {John T} and Jones, {Frank G C} and Green, {Anthony R} and McMullin, {Mary Frances}",

year = "2007",

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doi = "10.3324/haematol.11643",

language = "English",

volume = "92",

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AU - Percy, Melanie J

AU - Scott, Linda M

AU - Erber, Wendy N

AU - Harrison, Claire N

AU - Reilly, John T

AU - Jones, Frank G C

AU - Green, Anthony R

AU - McMullin, Mary Frances

PY - 2007/12

Y1 - 2007/12

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AB - Idiopathic erythrocytosis (IE) is characterized by erythrocytosis in the absence of megakaryocytic or granulocytic hyperplasia, and is associated with variable serum erythropoietin (Epo) levels. Most patients with IE lack the JAK2 V617F mutation that occurs in the majority of polycythemia vera patients. Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. The aims of this study were to assess the prevalence of JAK2 exon 12 mutations in IE patients, and to determine the associated clinicopathological features.

KW - Alleles

KW - Amino Acid Substitution

KW - Bone Marrow

KW - Cohort Studies

KW - Erythroid Precursor Cells

KW - Erythropoietin

KW - Exons

KW - Great Britain

KW - Humans

KW - Ireland

KW - Janus Kinase 2

KW - Polycythemia

KW - Polycythemia Vera

KW - Prevalence

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U2 - 10.3324/haematol.11643

DO - 10.3324/haematol.11643

M3 - Article

C2 - 18055979

SN - 0390-6078

VL - 92

SP - 1607

EP - 1614

JO - HAEMATOLOGICA

JF - HAEMATOLOGICA

IS - 12

ER -

The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels

Abstract

Keywords

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