학술논문
Cooperation between SF3B1and JAK2V617FMutations Accelerates Fibrotic Progression in Myeloproliferative Neoplasms By Enhancing STAT1 Signaling
Document Type
Article
Author
O Sullivan, Jennifer; Wen, Sean; Aliouat, Affaf; Rodriguez-Meira, Alba; Clark, Sally-Ann; Ashley, Neil; Wood, Amy; Slama, Ramy; Wang, Guanlin; Hamblin, Angela; Murphy, Lauren; Simoglou Karali, Christina; Brierley, Charlotte K; Cribbs, Adam P; Paterson, Aimee; Harrison, Claire N; Psaila, Bethan; Mead, Adam J
Source
Blood; November 2023, Vol. 142 Issue: 1, Number 1 Supplement 1 p861-861, 1p
Subject
Language
ISSN
00064971; 15280020
Abstract
Myeloproliferative neoplasms (MPN) are heterogenous clonal hematologic neoplasms where current therapies show limited disease-modification. We previously reported that the splicing factor, SF3B1, is mutated in 5-10% of MPN correlating with myelofibrotic progression in essential thrombocythemia. This adverse phenotype contrasts with SF3B1mutationsin myelodysplasia where it is associated with milder disease. Moreover, SF3B1K666 is the dominant hotspot in MPN in contrast to K700E in MDS (abstract #185043). The mechanism by which SF3B1mutations accelerate myelofibrotic progression in JAK2V617F-mutated MPN is not understood and will be a key step towards the development of disease-modifying therapies.