Megakaryoblastic leukaemia and myelofibrosis complicating Fanconi anaemia

Abstract

A 9-yr-old boy with a 2-yr history of Fanconi anaemia developed worsening pancytopenia that was unresponsive to oxymetholone therapy. Bone marrow was difficult to aspirate but showed the presence of megakaryoblasts. Bone marrow trephine was hypercellular with large clusters of abnormal megakaryocytes and a small population of megakaryoblasts, giving a diagnosis of megakaryoblastic leukaemia.