Somatic muations in SF3B1 may be associated with myelodysplasia.
Chromosome: 2q33.1
Gene: spliceosome factor 3b
Mutations are associated with abnormalities of messenger RNA splicing
Features:
(1) myelodysplasia often ring sideroblasts
(2) favorable prognosis
(3) increased thrombotic risk
(4) fewer cytopenias
(5) lower risk of evolution to AML
Concurrent conditions may include:
(1) MDS/myeloproliferative neoplasm (MPN-RS-T)
(2) chronic lymphocytic leukemia (CLL)
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Specialty: Hematology Oncology
