Role of theJAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis
2006; Lippincott Williams & Wilkins; Volume: 44; Issue: 6 Linguagem: Inglês
10.1002/hep.21435
ISSN1527-3350
AutoresMassimo Primignani, Giovanni Barosi, Gaetano Bergamaschi, Umberto Gianelli, F Fabris, R. Reati, Alessandra Dell’Era, Paolo Bucciarelli, Pier Mannuccio Mannucci,
Tópico(s)Kruppel-like factors research
ResumoThe 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.
Referência(s)