MPL and JAK2 exon 12 mutations in patients with the Budd-Chiari syndrome or extrahepatic portal vein obstruction

Blood

Volumn 111, Issue 8, 2008, Pages 4418-

  Bergamasehi, Gaetano M ^a   Primignani, Massimo ^a   Barosi, Giovanni ^a   Fabris, Federica M ^a   Villani, Laura ^a   Reati, Raffaella ^a   Dell'Era, Alessandra ^a   Mannucci, Pier M ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2; THROMBOPOIETIN RECEPTOR; MPL PROTEIN, HUMAN;

ALLELE; BONE MARROW BIOPSY; BUDD CHIARI SYNDROME; DNA SEQUENCE; EXON; GENE MUTATION; HUMAN; LETTER; MYELOPROLIFERATIVE DISORDER; POLYCYTHEMIA; POLYMERASE CHAIN REACTION; PORTAL VEIN OBSTRUCTION; PRIORITY JOURNAL; SPLANCHNIC BLOOD FLOW; THROMBOCYTHEMIA; ENZYMOLOGY; GENE FREQUENCY; GENETICS; MUTATION; OBSERVER VARIATION; VASCULAR DISEASE;

BUDD-CHIARI SYNDROME; EXONS; GENE FREQUENCY; HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; OBSERVER VARIATION; RECEPTORS, THROMBOPOIETIN; VASCULAR DISEASES;

EID: 43249108157     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-02-137687     Document Type: Letter

References (9)

1. Levine RL, Pardanani A, Tefferi A, Gilliland DG. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer. 2007:7:673-83.
2. Barosi G, Bergamaschi G, Marchetti M, et al. JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis. Blood. 2007;110:4030-4036.
3. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med (http://medicine.plosjournals.org). 2006;3:e270. Accessed October 10, 2006.
4. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006; 108:3472-3476.
5. Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007;356:459-468.
6. Primignani M, Barosi G, Bergamaschi G, et al. Role of JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. Hepatology. 2006;44:1528-1534.
7. Patel RK, Lea NC, Heneghan MA, et al. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology. 2006;130:2031-2038.
8. Kiladjian JJ, Cervantes F, Leebeek FW, et al. The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis. A report on 241 cases. Blood. Prepublished on February 4, 2008, as DOI 10.1182/blood-2007- 11-125328.
9. Wilkins BS, Erber WN, Bareford D, et al. Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes. Blood. 2008;111:60-70.