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

Autor: Valeria Fantuzzi, Leonardo Potenza, Ambra Paolini, Mario Luppi, Vincenzo Nasillo, Monica Morselli, Fabio Forghieri, Sara Bigliardi, Laura Faglioni, Andrea Messerotti
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Zdroj: Leukemia Research Reports, Vol 3, Iss 2, Pp 83-85 (2014)
Leukemia Research Reports
Popis: 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.
Databáze: OpenAIRE