5q-syndrome is a form of refractory anemia that occurs predominantly in females and is characterized by pronounced macrocytosis, frequent erythroblastopenia, absent or mild leukopenia, normal or elevated platelet counts, abnormal large monolobulate megakaryocytes with eccentric nuclei, typically normal bone marrow blast percentage, isolated deletion of the long arm of chromosome 5, rare progression to acute myeloid leukemia (AML), and prolonged survival [1]. Patients with 5q-syndrome are severely anemic, and show transfusion dependency at presentation; therefore, iron overload is an important prognostic factor for 5q-syndrome. 5q-syndrome patients demonstrate clear geographic, racial, ethnic, age, and gender variation in both incidence and mortality [2, 3]. 5q-syndrome is rare among Japanese MDS patients, and to our knowledge no study of Japanese 5q-syndrome patient series has been reported.
展开▼
