LAUSR

A 61-year-old man with a one-month history of progressive mild pancytopenia was referred to the haematology outpatient clinic. He had undergone prior laboratory investigation for this cytopenia without a clear diagnosis. A full blood count showed haemoglobin concentration 120 g/l, haematocrit 0 37, MCV 101 2 fl, WBC 2 7 9 10/l (neutrophils 1 0 9 10/l) and platelets 104 9 10/l. The reticulocyte count was normal. Biochemical screening including liver function tests was normal. The peripheral blood film showed striking elliptocytosis (left). A bone marrow biopsy was performed, which showed significant dysplasia of all haemopoietic lineages with the final diagnosis being myelodysplastic syndrome (MDS) with multilineage dysplasia. Cytogenetic analysis showed 46,XY,del(20) (q11)[13]/46,XY[5]. His revised International Prognostic Scoring System score was 0 6, stratifying the patient into the very low risk group. Based on the findings and multiple comorbidities (ischaemic cardiomyopathy, metallic valvular prosthesis and diabetes mellitus), treatment with azacitidine was started. After six cycles of treatment, the patient had achieved a complete haematological response and although his bone marrow no longer showed erythroid or granulocytic dysplasia, megakaryocyte dysplasia persisted. Cytogenetic analysis was normal. His blood film no longer showed elliptocytosis (right). The patient maintained a complete haematological response and was transfusion independent. However, after 36 cycles of azacitidine, significant elliptocytosis was again observed and the bone marrow now showed progression to MDS with excess blasts type 1. Cytogenetic analysis showed that the 20q deletion was again present. Azacitidine treatment was suspended and allogeneic transplantation is proposed. Elliptocytosis associated with MDS is a rare entity, with few cases described. It has been observed in association with 20q deletion (Boutault & Eveillard, 2016; Manthri et al, 2018). Some authors have shown a reduction of protein 4 1 in these patients, similar to that described in hereditary elliptocytosis. However, the genes that are known to be involved in hereditary elliptocytosis are found on chromosomes 1, 2 and 14, not on chromosome 20. The mechanism underlying MDS-associated elliptocytosis thus remains unclear.