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

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

doi:10.3324/haematol.11643

Cited by 82 publications

(69 citation statements)

References 27 publications

(24 reference statements)

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“…However, these are both relatively rare mutant alleles, occurring in only 4 of the 50 cases reported in the literature. 9,[11][12][13][14]16,23 In contrast, the most common exon 12 mutations (F537-K539delinsL, N542-E543del, E543-D544del) were all detectable at a relative abundance of 7% or less. Secondly, patient samples with purely mutant DNA may pose a problem due to an absence of heteroduplex formation.…”

Section: F537-k539delinslmentioning

confidence: 91%

“…In instances of patients with a low clonal burden, however, exon 12 mutations identified by HRM may not be confirmable by dideoxy sequencing; allele-specific PCR may be required for mutation confirmation in these instances. Alternatively, as all patients positive for JAK2 exon 12 mutation have erythropoietin-independent erythroid colonies (EECs), 9,11 individual colonies could be analyzed by dideoxy sequencing to confirm the mutation suspected.…”

Section: F537-k539delinslmentioning

confidence: 99%

“…These mutations may also be detected in patients with erythrocytosis that fail to fulfill the Polycythemia Vera Study Group (PVSG) diagnostic criteria for PV, 10 and are instead classified as having idiopathic erythrocytosis (IE). 9,11 Individual allele-specific PCR reactions have been developed to detect the first four exon 12 mutations to be described. 9 However, additional mutations have subsequently been identified, [11][12][13][14][15][16] including duplications that might not easily be identified using an allele-specific PCR strategy.…”

Section: Introductionmentioning

confidence: 99%

“…9,11 Individual allele-specific PCR reactions have been developed to detect the first four exon 12 mutations to be described. 9 However, additional mutations have subsequently been identified, [11][12][13][14][15][16] including duplications that might not easily be identified using an allele-specific PCR strategy. 14 It is possible that additional mutant alleles exist.…”

Section: Introductionmentioning

confidence: 99%

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Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis

Jones

Cross²,

White³

et al. 2008

Haematologica

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Diverse JAK2 exon 12 mutations have been described in patients with V617F-negative polycythemia vera. Development of a sensitive detection assay capable of identifying any of these mutations is required for medium-throughput diagnostic screens. Non-mutated and mutant JAK2 exon 12 alleles were amplified from patient samples and cloned into plasmid vectors, then used to determine the sensitivity of a novel high-resolution melting-curve assay designed to detect all mutant JAK2 exon 12 alleles tested. High resolution melting analysis was more sensitive than direct sequencing and capable of detecting exon 12 mutations in granulocytes at moderate levels. In a blinded analysis of DNAs from V617F-negative erythrocytosis patients, with direct sequencing and allele-specific PCR used in one laboratory and high resolution melting analysis in another, high resolution melting successfully identified JAK2 exon 12 mutations in all 4 mutation-positive patients. High resolution melting analysis is a rapid, sensitive and high-throughput technique that is suitable for screening for JAK2 exon 12 mutations.

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Section: F537-k539delinslmentioning

confidence: 91%

Section: F537-k539delinslmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis

Jones

Cross²,

White³

et al. 2008

Haematologica

Self Cite

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show abstract

“…(iv-3) Somatic Janus kinase 2, particularly G1894T/V617F mutation, for exclusion of neoplastic PV; [13][14][15] familial and/or juvenile PV cases are possible. 16,17 The home page of MPN&MPNr-EuroNet (COST Action BM0902) provides addresses of European laboratories, which perform mutation analysis for familial erythrocytosis: http:// www.mpneuronet.eu/ 3.1.2 Describe the burden of alternative diagnostic methods to the patient.…”

Section: Commentmentioning

confidence: 99%

Clinical utility gene card for: familial erythrocytosis

2012

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Myeloproliferative Neoplasms: Essential Thrombocythemia, Primary Myelofibrosis, and Polycythemia Vera

Tefferi

2017

Holland‐Frei Cancer Medicine

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Overview The chronic myeloid neoplasms are a diverse group of malignant bone marrow conditions that originate in a transformed multipotential hematopoietic progenitor cell. This heterogeneous group of diseases shares an initially indolent clinical course with a variable degree of risk to evolve into overt acute leukemia. Even in the absence of leukemic transformation, the consequences of the cellular excesses or deficiencies characteristic of these disorders are troublesome for patients and all too frequently fatal; some of these disease complications include thrombosis, bleeding, marked hepatosplenomegaly, profound constitutional symptoms, and cachexia.

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

Cited by 82 publications

References 27 publications

Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis

Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis

Clinical utility gene card for: familial erythrocytosis

Myeloproliferative Neoplasms: Essential Thrombocythemia, Primary Myelofibrosis, and Polycythemia Vera

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