MYELODYSPLASTIC SYNDROME WITH ERYTHROID HYPOPLASIA APLASIA - A CASE-REPORT AND REVIEW OF THE LITERATURE/

Myelodysplastic syndrome (MDS) with erythroid hypoplasia/aplasia has n ot yet been clearly defined, and in most patients it is mistaken for a cquired pure red cell aplasia (PRCA). We report a patient with severe transfusion-dependent anemia (Hb 6.9 g/dl) and reticulocytopenia. WBC and platelet counts were normal. Bone marrow examination showed a mark ed trilineage dysplasia and a row percentage of erythroid precursors ( 3%). A diagnosis of MDS (refractory anemia according to FAB classifica tion) with erythroid hypoplasia/aplasia was made. Repeated cytogenetic analysis of bone marrow showed normal karyotypes. Moreover, serial Ig M serology and DNA analysis of the patient's sera for B19 parvovirus w ere negative. Other conditions known to be associated with erythroid a plasia were also absent. The patient failed hematinics and prednisone therapy. He next received r-HuEPO (200 U/kg three times weekly). This form of therapy achieved a rapid and complete erythroid response. He h as remained in complete erythroid response after a 7-month period on m aintenance therapy of 100 U/kg three times weekly. A review of the lit erature revealed only 15 well-documented cases of MDS with erythroid h ypoplasia/aplasia. All had morphological evidence of myelodysplasia, T hese patients were predominantly elderly males, all required regular p acked red cell transfusions, and had an unfavorable prognosis, mainly because of a high rate of blastic transformation (frequently preceded by a myeloproliferative phase). The mechanism of erythroid hypoplasia in this subgroup of MDS remains uncertain. However, laboratory and cli nical data suggest the existence of an intrinsic stem cell defect. Non e of the patients received hematopoietic growth factors. To our knowle dge, our patient is the first case of MDS with erythroid hypoplasia wh ere r-HuEPO was successfully attempted. The description of more cases is necessary to delineate the value of r-HuEPO therapy in this rare va riant of MDS. (C) 1998 Wiley-Liss, Inc.