Acquired elliptocytosis in a patient with myelodysplastic syndrome harbouring a novel unbalanced whole‐arm translocation, der(14;20)(q10;p10)

Abstract

An 81-year-old male was referred to our hospital due to dyspnoea. He was found to have pancytopenia (haemoglobin concentration 79 g/l, platelets 117 9 10 9 /l, white blood cells 1.6 9 10 9 /l) and mean corpuscular volume of 106.6 fl. A peripheral blood film revealed marked elliptocytosis (top image). Bone marrow examination showed a hypocellular bone marrow (blast cells 1.2%) with dyserythropoiesis and dysmegakaryopoiesis. Chromosomal analysis showed 46,XY, der(14;20)(q10;p10),+mar[2]/47,idem,+8[17]/46,XY[1] (lower image). A diagnosis of myelodysplastic syndrome (MDS) with multilineage dysplasia was made. Acquired elliptocytosis due to MDS is the most likely diagnosis in this case since the patient had no history of anaemia. He was started on erythropoietin-stimulating agent monotherapy; however, he chose to discontinue the treatment in order to avoid frequent outpatient treatment during to the COVID-19 pandemic, and returned to the clinic nearest to his home for supportive care alone.Acquired elliptocytosis is most commonly observed in MDS, with del(20q) being frequently seen in such cases. The der(14;20)(q10;p10), resulting from an unbalanced wholearm translocation results in the loss of 14p and 20q. Our patient thus illustrates an alternative cytogenetic mechanism for the acquired elliptocytosis seen in MDS.