JAK2 46/1 haplotype predisposes to splanchnic vein thrombosis-associated BCR-ABL negative classic myeloproliferative neoplasms

Leukemia Research

Volumn 36, Issue 1, 2012, Pages

  Villani, Laura ^a   Bergamaschi, Gaetano ^a   Primignani, Massimo ^b   Rosti, Vittorio ^a   Carolei, Adriana ^a   Poletto, Valentina ^a   Catarsi, Paolo ^a   Spolverini, Ambra ^c   Vannucchi, Alessandro M ^c   Barosi, Giovanni ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c ISTITUTO TOSCANO TUMORI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

BCR ABL GENE; BUDD CHIARI SYNDROME; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENOTYPE; GRANULOCYTE; HAPLOTYPE; HUMAN; JAK2 GENE; LETTER; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; PORTAL VEIN THROMBOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPLANCHNIC BLOOD FLOW; SPLANCHNIC VEIN THROMBOSIS; THROMBOTIC THROMBOCYTOPENIC PURPURA; VEIN THROMBOSIS;

BONE MARROW NEOPLASMS; CASE-CONTROL STUDIES; FUSION PROTEINS, BCR-ABL; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; JANUS KINASE 2; MESENTERIC VASCULAR OCCLUSION; MESENTERIC VEINS; MUTATION; MYELOPROLIFERATIVE DISORDERS; PHENYLALANINE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SPLANCHNIC CIRCULATION; VALINE; VENOUS THROMBOSIS;

EID: 83555174780     PISSN: 01452126     EISSN: 18735835     Source Type: Journal    
DOI: 10.1016/j.leukres.2011.08.008     Document Type: Letter

References (7)

1. Jones A.V., Chase A., Silver R.T., et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 2009, 41:446-449.
2. Olcaydu D., Skoda R.C., Looser R., et al. The "GGCC" haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera. Leukemia 2009, 23:1924-1926.
3. Pardanani A., Lasho T.L., Finke C.M., et al. The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status clinical correlates in a study of 226 consecutive patients. Leukemia 2010, 24:110-114.
4. Colaizzo D., Tiscia G.L., Bafunno V., et al. The JAK2 rs12343867 CC genotype frequently occurs in patients with splanchnic venous thrombosis without the JAK2V617F mutation: a retrospective study. J Thromb Haemost 2010, 8:413-416.
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6. Kouroupi E.G., Cassinat B., Plessier A., et al. Lack of association between the 46/1 JAK2 haplotype and the presence of JAK2V617F mutation in splanchnic vein thrombosis patients. Blood 2010, 21. [abstract 4120].
7. Smalberg J.H., Koehler E., Darwish Murad S., et al. The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis. Blood 2011, (epub ahead of print).