An unusual case of splenomegaly and increased lactate dehydrogenase heralding acute myeloid leukemia with eosinophilia and RUNX1–MECOM fusion transcripts

摘要

We report the first case of acute myeloid leukemia (AML) with RUNX1–MECOM fusion transcripts, showing marked eosinophilia. A 63-year old man admitted in August 2013, had previously been observed in April 2013, because of persisting homogeneous splenomegaly and increased LDH, which were initially attributed to both minor β-thalassemia and previous acute myocardial infarction. However, based upon the retrospective analysis of clinical features combined with the documentation of both JAK2 V617F and c-KIT D816V mutations at AML diagnosis, an aggressive leukemic transformation with eosinophilia of a previously unrecognized myeloproliferative neoplasm, rather than the occurrence of de novo AML, may be hypothesized. Highlights ? We report the first case of AML with RUNX1–MECOM fusion transcripts and eosinophilia. ? JAK2 V617F and c-KIT D816V mutations have been concurrently observed. ? Leukemic transformation of a previously unrecognized MPN may be hypothesized.