Refractory Thrombocytopenia with Multilineage Dysplasia: A Rare Type of Myelodysplastic Syndrome.

Thrombocytopenia may be the presenting cytopenia of myelodysplastic syndrome (MDS) and is named as refractory thrombocytopenia (RT) and categorized in the refractory cytopenia with multilineage dysplasia (RCMD) group according to the recent World Health Organization (WHO) classification of the acute leukemias and MDS. Abnormal cytogenetics can be found in 60% to 80% of patients with MDS. Most common cytogenetic abnormalities include monosomy 5, 5q-, monosomy 7, trisomy 8, deletion 20q and loss of X or Y chromosome. Here we report clinical features and outcomes of nine patients with RT. Cytogenetic abnormalities were detected in seven. Among two patients who have a normal karyotype at diagnosis, one of them transformed to acute myeloid leukemia (AML). During a median follow-up of 29 months, two patients died of hemorrhagia and one of AML. The features and prognosis of patients with RT needs to be determined by larger series.