Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts
. N Engl J Med 2011;365:1384-95.
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast
In 2007, a 60-year-old southern Italian man who presented with severe microcytic anemia, jaundice, hepatosplenomegaly, iron overload, ringed sideroblasts
, and cirrhosis was reported (60).
reagent kit for the determination of sideroblasts
and siderocytes 10 nab.
As part of erythroblastic dysplasia, in copper deficiency, ringed sideroblasts
can also be detected, and in this case, copper supplement can correct the anemia contrary to cases of clonal refractory ane mia with ringed sideroblasts
14 patients had refractory anemia (RA), six had an isolated deletion of the long arm of chromosome 5 (del(5q)), 5 had refractory anemia with ring sideroblasts
(RARS), 17 had refractory cytopenia with multilineage dysplasia (RCMD), 15 had refractory anemia with excess blasts 1 (RAEB-1), and 19 had RAEB-2.
The bone marrow no longer has sideroblasts
, and there is not enough iron to put in the heme protoporphyrin ring.
SF3B1 is a spliceosome protein that is recurrently mutated in myelodysplastic syndrome (MDS) with ringed sideroblasts
(75%), uveal melanoma (20%), chronic lymphocytic leukemia (CLL; 10%), pancreatic cancer (4%), acute myeloid leukemia (AML; 2%), breast cancer (2%), and other malignancies (11-13).
Early resolution: This is the recovery stage in which there is rapid disappearance of megaloblastic change with persistence of sideroblasts
The first finding was ring sideroblasts
, which are present in about 25% of cases of MDS .
Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts
. Leuk Res 2011;35:479-83.
According to World Health Organization criteria (23), the patients were classified as follows: 8 cases of refractory anemia, 7 cases of refractory anemia with ringed sideroblasts
, 7 cases of refractory anemia with excess blasts, and 8 cases of refractory anemia with excess blasts in transformation.