Ohara Yuuki, Kato Seiichi, Yamashita Daisuke, Satou Akira, Shimoyama Yoshie, Hamaie Chie, Sato Motoki, Ban Nobutaro, Yamamoto Koji, Yamada Takehiro, Kawai Hisashi, Ohshima Koichi, Nakamura Shigeo, Toyokuni Shinya
Department of Pathology and Biological Responses, Nagoya University Graduate School of Medicine, Japan.
Department of Pathology and Laboratory Medicine, Nagoya University Hospital, Nagoya, Japan.
Pathol Int. 2018 Jun;68(6):374-381. doi: 10.1111/pin.12663. Epub 2018 Mar 30.
p16 activation caused by oncogenic mutations may represent oncogene-induced senescence (OIS), a protective mechanism against oncogenic events. However, OIS can contribute to tumor development via tissue remodeling in some tumors. Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, is one such tumor. Its clinical and histological features vary, making it difficult to diagnose. Herein, we describe an autopsy of an ECD patient. The patient underwent radiological examinations, including F-fluorodeoxyglucose (FDG)-positron emission tomography/computed tomography (PET/CT), bone scintigraphy and CT. A biopsy from the lesion with the highest FDG accumulation confirmed the presence of foamy macrophages, a diagnostic clue for ECD. Based on this finding and the clinical features, ECD was diagnosed. However, the patient died from heart dysfunction. After the autopsy, each radiologically different site showed various histological findings regarding the morphology of macrophages, fibrosis, inflammation, and p16 expression. OIS-induced histological progression can cause certain changes observed in radiological images. In addition, in order to evaluate the increase in glucose metabolism, which can affect FDG accumulation, the expression of glucose transporter 1 and hexokinase II was also analyzed. Summarizing the radio-histological correlation can help further both the understanding and diagnosis of ECD.
致癌突变引起的p16激活可能代表癌基因诱导的衰老(OIS),这是一种针对致癌事件的保护机制。然而,在某些肿瘤中,OIS可通过组织重塑促进肿瘤发展。 Erdheim-Chester病(ECD)是一种罕见的非朗格汉斯细胞组织细胞增多症,就是这样一种肿瘤。其临床和组织学特征各不相同,难以诊断。在此,我们描述了一例ECD患者的尸检情况。该患者接受了包括F-氟脱氧葡萄糖(FDG)-正电子发射断层扫描/计算机断层扫描(PET/CT)、骨闪烁显像和CT在内的放射学检查。对FDG积聚最高的病变部位进行活检,证实存在泡沫状巨噬细胞,这是ECD的一个诊断线索。基于这一发现和临床特征,诊断为ECD。然而,患者死于心脏功能障碍。尸检后,每个放射学表现不同的部位在巨噬细胞形态、纤维化、炎症和p16表达方面均显示出不同的组织学结果。OIS诱导的组织学进展可导致在放射学图像中观察到某些变化。此外,为了评估可能影响FDG积聚的葡萄糖代谢增加情况,还分析了葡萄糖转运蛋白1和己糖激酶II的表达。总结放射学与组织学的相关性有助于进一步理解和诊断ECD。