Forghieri Fabio, Bigliardi Sara, Morselli Monica, Potenza Leonardo, Fantuzzi Valeria, Faglioni Laura, Nasillo Vincenzo, Messerotti Andrea, Paolini Ambra, Luppi Mario
Department Medical and Surgical Sciences, Section of Hematology, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria Policlinico, Modena, Italy.
Leuk Res Rep. 2014 Sep 30;3(2):83-5. doi: 10.1016/j.lrr.2014.09.003. eCollection 2014.
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.
我们报告了首例伴有RUNX1-MECOM融合转录本且表现出明显嗜酸性粒细胞增多的急性髓系白血病（AML）病例。一名63岁男性于2013年8月入院，此前在2013年4月就因持续性均匀性脾肿大和乳酸脱氢酶升高而接受观察，最初认为这两者分别归因于轻度β地中海贫血和既往急性心肌梗死。然而，基于对临床特征的回顾性分析以及AML诊断时JAK2 V617F和c-KIT D816V突变的记录，推测可能是先前未被识别的骨髓增殖性肿瘤发生了伴有嗜酸性粒细胞增多的侵袭性白血病转化，而非新发AML。
