Ring sideroblast in myelodysplastic syndrome is associated with which gene mutation?
Myelodysplastic syndrome: Group of clonal stem cell disorders characterized by maturation defects, that are associated with ineffective hematopoiesis & have high risk of transformation to AML. - Myelodysplastic Syndrome with Ring Sideroblastic(MDS-RS) entity is earlier called as Refractory anemia with Ring Sideroblasts.(RA-RSS). - It is diagnosed: Only when >15% of early RBC are Ringed sideroblasts. Also if >5% of early RBC are RS and associated with mutation SF3B1. This mutation is a/w better prognosis.
ASXL1
EZH 2
TET 2
SF3B1
Iron deficiency anemia