Pure red cell aplasia evolving through the hyperfibrotic myelodysplastic syndrome to the acute myeloid leukemia: some pathogenetic aspects

The authors report a 58-year-old female who originally presented with acqui red pure red cell aplasia (PRCA). At diagnosis, the karyotype was normal, t he serum erythropoietin level was highly elevated and no T-cell mediated in hibition of erythropoiesis was demonstrated in coculture studies. Conventio nal immunossupressive therapy proved ineffective. A year later a diagnosis of hyperfibrotic myelodysplastic syndrome was assessed. The sequential bone marrow examinations in the course of the three years showed a progressive increase in bone marrow fibrosis, erythroid hyperplasia and dysmegakaryocyt opoiesis, terminating in the acute myeloid leukemia. This sequence of the e vents included the appearance of del(5)(q13q33), four years after setting a diagnosis of PRCA. The authors suggest that the absence of both cytogeneti c abnormality and the signs of dyshematopoiesis at the diagnosis of PRCA do es not exclude ultimately a "clonal" category of the disease. Thus, repeate d hematological and cytogenetical reevaluations are recommended.