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

Fabio Forghieri; Sara Bigliardi; Monica Morselli; Leonardo Potenza; Valeria Fantuzzi; Laura Faglioni; Vincenzo Nasillo; Andrea Messerotti; Ambra Paolini; Mario Luppi

doi:10.1016/j.lrr.2014.09.003

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

Leuk Res Rep. 2014 Sep 30;3(2):83-5. doi: 10.1016/j.lrr.2014.09.003. eCollection 2014.

Affiliation

¹ Department Medical and Surgical Sciences, Section of Hematology, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria Policlinico, Modena, Italy.

Abstract

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.

Keywords: Acute myeloid leukemia; Eosinophilia; Myeloproliferative neoplasm; RUNX1–MECOM; Splenomegaly; t(3;21)(q26;q22).