Molecular profiling was able to identify patients at high risk for myeloproliferative neoplasms with splanchnic vein thromboses (MPN-SVT). These findings, from a retrospective study, were published in Blood Advances.
For this study, 80 patients with a diagnosis of Budd-Chiari syndrome (BCS) or portal vein thrombosis (PVT) and MPN who had available next-generation sequencing data were recruited. Patients were assessed for myelofibrosis and acute leukemia evolution and death. Median follow-up time was 11 years.
A Janus kinase 2 (JAK2) mutation (V617F) was observed among 13% of participants, which corresponded with an increased risk for disease progression (odds ratio [OR], 14.7; 95% CI, 3.2-67.9; P =.0005) and a high likelihood of additional JAK2 (OR, 5.7; 95% CI, 1.11-28.6; P =.03) and chromatin or spliceosome gene mutations (OR, 9.0; 95% CI, 2.1-39; P =.003).
On the basis of the increased risk for disease progression, the investigators defined patients as high-risk when they had a JAK2 allele burden of at least 50% and/or a mutation to a gene involved in chromatin, the spliceosome, or TP53. These patients had a reduced event-free survival (81%) compared with low-risk patients (100%; P =.001) at 10 years.
A potential limitation of this study was the low observed death rate (1 participant) over 10 years, this low rate may indicate that some patients with severe acute hepatic injury may have been overlooked.
The study authors concluded that molecular profiling, for mutations in the JAK2 or TP53 alleles or genes involved with chromatin or the spliceosome, allowed for the identification of high-risk patients for MPN-SVT.
Debureaux PE, Cassinat B, Soret-Dulphy J, et al. Molecular profiling and risk classification of patients with myeloproliferative neoplasms and splanchnic vein thromboses. Blood Adv. 2020;4(15):3708-3715. doi:10.1182/bloodadvances.2020002414