Kawasaki Yukako, Makimoto Masami, Nomura Keiko, Hoshino Akihiro, Hamashima Takeru, Hiwatari Mitsuteru, Nakazawa Atsuko, Takita Junko, Yoshida Taketoshi, Kanegane Hirokazu
Division of Neonatology, Maternal and Perinatal Center, Toyama University Hospital Toyama, Japan.
Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama Toyama, Japan.
Clin Case Rep. 2015 Mar;3(3):145-9. doi: 10.1002/ccr3.183. Epub 2014 Dec 2.
We describe a neonate with abdominal distension, massive hepatomegaly, and high serum neuron-specific enolase level suggestive of congenital neuroblastoma. The patient died of pulmonary hemorrhage after therapy. Autopsy revealed that the tumor cells in the liver indicated acute megakaryocytic leukemia with the RBM15-MKL1 fusion gene.
我们描述了一名患有腹胀、巨大肝肿大以及血清神经元特异性烯醇化酶水平升高的新生儿,提示患有先天性神经母细胞瘤。该患者在治疗后死于肺出血。尸检显示肝脏中的肿瘤细胞为具有RBM15-MKL1融合基因的急性巨核细胞白血病。