Authors
Raj K Patel, Nicholas C Lea, Michael A Heneghan, Nigel B Westwood, Dragana Milojkovic, Murugaiyan Thanigaikumar, Deborah Yallop, Roopen Arya, Antonio Pagliuca, Joop Gäken, Julia Wendon, Nigel D Heaton, Ghulam J Mufti
Publication date
2006/6/1
Journal
Gastroenterology
Volume
130
Issue
7
Pages
2031-2038
Publisher
WB Saunders
Description
Background & Aims
Budd–Chiari Syndrome (BCS) results from obstruction to hepatic venous outflow, with myeloproliferative disorder (MPD) accounting for up to 40% of cases. A number of BCS cases labelled as “idiopathic” do not fulfill the diagnostic criteria for MPD but have features suggestive of a latent form based on hyperplastic bone marrow and erythroid progenitor cell culture; these cases may subsequently develop overt MPD. A clonal mutation in JAK2 tyrosine kinase (JAK2V617F) occurs in a high proportion of patients with MPD and is of use in the characterization of latent MPD in BCS.
Methods
We performed allele-specific polymerase chain reaction to screen for JAK2V617F in subjects with BCS (n = 41) and polycythemia vera (PV) (n = 20) and in hematologically normal controls (n = 27).
Results
AK2V617F was detected in 24 of 41 (58.5%) subjects with BCS, 19 of 20 PV controls, and 0 of 27 …
Total citations
Scholar articles
RK Patel, NC Lea, MA Heneghan, NB Westwood… - Gastroenterology, 2006
RK Patel, N Lea, MA Heneghan, N Westwood… - Blood, 2005