Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population

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Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population. / Nielsen, Camilla; Birgens, Henrik S; Nordestgaard, Børge G; Bojesen, Stig Egil.

In: British Journal of Haematology, Vol. 160, No. 1, 2013, p. 70-9.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Nielsen, C, Birgens, HS, Nordestgaard, BG & Bojesen, SE 2013, 'Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population', British Journal of Haematology, vol. 160, no. 1, pp. 70-9. https://doi.org/10.1111/bjh.12099

APA

Nielsen, C., Birgens, H. S., Nordestgaard, B. G., & Bojesen, S. E. (2013). Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population. British Journal of Haematology, 160(1), 70-9. https://doi.org/10.1111/bjh.12099

Vancouver

Nielsen C, Birgens HS, Nordestgaard BG, Bojesen SE. Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population. British Journal of Haematology. 2013;160(1):70-9. https://doi.org/10.1111/bjh.12099

Author

Nielsen, Camilla ; Birgens, Henrik S ; Nordestgaard, Børge G ; Bojesen, Stig Egil. / Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population. In: British Journal of Haematology. 2013 ; Vol. 160, No. 1. pp. 70-9.

Bibtex

@article{42fcd8228a7b4395b392584987783624,
title = "Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population",
abstract = "The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). However, the diagnostic value of the JAK2 V617F somatic mutation for myeloproliferative cancer in the general population is unknown. We examined this question in 49 488 individuals from the Copenhagen General Population Study. We also examined the association between JAK2 V617F somatic mutation, rs10974944 germline genotype, haematological phenotype, any cancer, haematological cancer, myeloproliferative cancer, ischaemic heart disease, and venous thromboembolism. The JAK2 V617F somatic mutation was present in 0·1{\%} (n = 68), increasing across rs10974944 germline genotypes (P-trend = 0·001). JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thrombocyte (P = 2 × 10(-16) ), and leucocyte (P = 4 × 10(-9) ) counts, and had 2·7-/2·5-fold risk of cancer (prevalent/incident), 44-/28-fold risk of haematological cancer, 221-/97-fold risk of myeloproliferative cancer, 2·2-/1·2-fold risk of ischaemic heart disease, and 3·1-/1·0-fold risk of venous thromboembolism. By combining conventional haematological parameters with a test for the JAK2 V617F somatic mutation, myelo;?>proliferative cancer could be identified or ruled out with a sensitivity of 47-100{\%} and a specificity of 98-100{\%}. In conclusion, in the general population the JAK2 V617F somatic mutation has a high diagnostic value for myeloproliferative cancer when combined with conventional haematological parameters.",
author = "Camilla Nielsen and Birgens, {Henrik S} and Nordestgaard, {B{\o}rge G} and Bojesen, {Stig Egil}",
note = "{\circledC} 2012 Blackwell Publishing Ltd.",
year = "2013",
doi = "10.1111/bjh.12099",
language = "English",
volume = "160",
pages = "70--9",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "Wiley-Blackwell",
number = "1",

}

RIS

TY - JOUR

T1 - Diagnostic value of JAK2 V617F somatic mutation for myeloproliferative cancer in 49 488 individuals from the general population

AU - Nielsen, Camilla

AU - Birgens, Henrik S

AU - Nordestgaard, Børge G

AU - Bojesen, Stig Egil

N1 - © 2012 Blackwell Publishing Ltd.

PY - 2013

Y1 - 2013

N2 - The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). However, the diagnostic value of the JAK2 V617F somatic mutation for myeloproliferative cancer in the general population is unknown. We examined this question in 49 488 individuals from the Copenhagen General Population Study. We also examined the association between JAK2 V617F somatic mutation, rs10974944 germline genotype, haematological phenotype, any cancer, haematological cancer, myeloproliferative cancer, ischaemic heart disease, and venous thromboembolism. The JAK2 V617F somatic mutation was present in 0·1% (n = 68), increasing across rs10974944 germline genotypes (P-trend = 0·001). JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thrombocyte (P = 2 × 10(-16) ), and leucocyte (P = 4 × 10(-9) ) counts, and had 2·7-/2·5-fold risk of cancer (prevalent/incident), 44-/28-fold risk of haematological cancer, 221-/97-fold risk of myeloproliferative cancer, 2·2-/1·2-fold risk of ischaemic heart disease, and 3·1-/1·0-fold risk of venous thromboembolism. By combining conventional haematological parameters with a test for the JAK2 V617F somatic mutation, myelo;?>proliferative cancer could be identified or ruled out with a sensitivity of 47-100% and a specificity of 98-100%. In conclusion, in the general population the JAK2 V617F somatic mutation has a high diagnostic value for myeloproliferative cancer when combined with conventional haematological parameters.

AB - The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). However, the diagnostic value of the JAK2 V617F somatic mutation for myeloproliferative cancer in the general population is unknown. We examined this question in 49 488 individuals from the Copenhagen General Population Study. We also examined the association between JAK2 V617F somatic mutation, rs10974944 germline genotype, haematological phenotype, any cancer, haematological cancer, myeloproliferative cancer, ischaemic heart disease, and venous thromboembolism. The JAK2 V617F somatic mutation was present in 0·1% (n = 68), increasing across rs10974944 germline genotypes (P-trend = 0·001). JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thrombocyte (P = 2 × 10(-16) ), and leucocyte (P = 4 × 10(-9) ) counts, and had 2·7-/2·5-fold risk of cancer (prevalent/incident), 44-/28-fold risk of haematological cancer, 221-/97-fold risk of myeloproliferative cancer, 2·2-/1·2-fold risk of ischaemic heart disease, and 3·1-/1·0-fold risk of venous thromboembolism. By combining conventional haematological parameters with a test for the JAK2 V617F somatic mutation, myelo;?>proliferative cancer could be identified or ruled out with a sensitivity of 47-100% and a specificity of 98-100%. In conclusion, in the general population the JAK2 V617F somatic mutation has a high diagnostic value for myeloproliferative cancer when combined with conventional haematological parameters.

U2 - 10.1111/bjh.12099

DO - 10.1111/bjh.12099

M3 - Journal article

VL - 160

SP - 70

EP - 79

JO - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 1

ER -

ID: 48428006