{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:11:16Z","timestamp":1793747476313,"version":"4.6.1"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":3196,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:sec>\n            <jats:title\/>\n            <jats:p>\n                                 <jats:bold>The diagnosis of an underlying chronic myeloproliferative disorder (CMPD) is often problematic in patients with primary extrahepatic portal vein obstruction (EHPVO) or Budd-Chiari syndrome (BCS); indeed, conventional clinical and hematological parameters usually yield insufficient information. To assess the diagnostic contribution of the gain-of-function mutation V617F of the<\/jats:bold>\n                                 <jats:bold>\n                                    JAK2\n                                 <\/jats:bold>\n                                 <jats:bold>gene, 93 patients with EHPVO or BCS were investigated.<\/jats:bold>\n                                 <jats:bold>\n                                    JAK2\n                                 <\/jats:bold>\n                                 <jats:bold>V617F was identified in 35.6% of 73 patients with EHPVO and in 40% of 20 patients with BCS. Taking the<\/jats:bold>\n                                 <jats:bold>\n                                    JAK2\n                                 <\/jats:bold>\n                                 <jats:bold>mutation as a test with the highest positive predictive value for the diagnosis of CMPD, conventional clinical-hematological parameters had a sensitivity for CMPD lower than 48%. Bone marrow (BM) histology provided a diagnosis of CMPD in 41\/74 (55.4%) patients, with a sensitivity of 93.5%. Clonality of hematopoiesis as assessed by granulocyte X-chromosome inactivation was present in 65.1% of 43 informative female patients, with a sensitivity of 86.6%. By resolving the sensitivity bias of the<\/jats:bold>\n                                 <jats:bold>\n                                    JAK2\n                                 <\/jats:bold>\n                                 <jats:bold>mutation with the results of BM histology and clonality assay, CMPD was diagnosed in 53% of patients with EHPVO or BCS.<\/jats:bold>\n                                 <jats:bold>\n                                    In conclusion\n                                 <\/jats:bold>\n                                 <jats:bold>, CMPD is the major cause of primary EHPVO or BCS.<\/jats:bold>\n                                 <jats:bold>\n                                    JAK2\n                                 <\/jats:bold>\n                                 <jats:bold>V617F is a very reliable and noninvasive molecular marker for CMPD and should be used as a first test for diagnosis.<\/jats:bold>\n                              <\/jats:p>\n          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