Ring sideroblast in myelodysplastic syndrome is associated with which gene mutation?: (A) ASXL1, (B) EZH 2, (C) TET 2, (D) SF3B1
Answer is D. 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.