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Cited by 254

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Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis

Primignani, Massimo, Barosi, Giovanni, Bergamaschi, Gaetano, Gianelli, Umberto, Fabris, Federica, Reati, Raffaella, Dell'Era, Alessandra, Bucciarelli, Paolo, Mannucci, Pier Mannuccio·2006·Hepatology

Abstract

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 JAK2 gene, 93 patients with EHPVO or BCS were investigated. JAK2 V617F was identified in 35.6% of 73 patients with EHPVO and in 40% of 20 patients with BCS. Taking the JAK2 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 JAK2 mutation with the results of BM histology and clonality assay, CMPD was diagnosed in 53% of patients with EHPVO or BCS. In conclusion , CMPD is the major cause of primary EHPVO or BCS. JAK2 V617F is a very reliable and noninvasive molecular marker for CMPD and should be used as a first test for diagnosis.

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Metadata

Authors
Primignani, M., Barosi, G., Bergamaschi, G., Gianelli, U., Fabris, F., Reati, R., Dell'Era, A., Bucciarelli, P., & Mannucci, P. M.
Venue
Hepatology
Published
2006-12
Volume
44
Issue
6
Pages
1528-1534
ISSN
0270-9139 (ISSN-L)
OpenAlex
W1991452357
Cited by
254
References
26
FWCI
10.64
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. https://app.cochat.ai/papers/10.1002/hep.21435
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Primignani, M., Barosi, G., Bergamaschi, G., Gianelli, U., Fabris, F., Reati, R., Dell'Era, A., Bucciarelli, P., & Mannucci, P. M. (2006). Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. Hepatology. https://doi.org/10.1002/hep.21435

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