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

• Main Authors: Fabio Forghieri, Sara Bigliardi, Monica Morselli, Leonardo Potenza, Valeria Fantuzzi, Laura Faglioni, Vincenzo Nasillo, Andrea Messerotti, Ambra Paolini, Mario Luppi
• Format: Article
• Language: English
• Published: Elsevier 2014-01-01
• Series: Leukemia Research Reports
• Subjects: Acute myeloid leukemia; t(3;21)(q26;q22); RUNX1–MECOM; Eosinophilia; Splenomegaly; Myeloproliferative neoplasm
• Online Access: http://www.sciencedirect.com/science/article/pii/S2213048914000211

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.