Department of General Medicine, Nagoya University Hospital, Nagoya, Japan.
Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Nagoya J Med Sci. 2023 Feb;85(1):150-156. doi: 10.18999/nagjms.85.1.150.
Erdheim-Chester disease is characterized by the infiltration of foamy histiocytes in tissues. Lesional tissue biopsy is recommended to confirm diagnosis and establish the mutational status. A 52-year-old man presented to our hospital with hydronephrosis. Computed tomography showed enhancement of soft shadows around the left renal pelvis transition area and the aorta. He was treated with prednisolone 0.2 mg/kg for 1 year; however, no improvement was observed. Fluorodeoxyglucose-positron emission tomography/computed tomography revealed increased fluorodeoxyglucose uptake in various body parts, including the maxillary sinuses, indicative of Erdheim-Chester disease. He refused further examination, and the maxillary sinus lesions were treated with antibiotics and intranasal steroids, but no improvement was observed. Two years later, he underwent biopsy with endoscopic sinus surgery of the maxillary sinus, which showed the highest increase in fluorodeoxyglucose uptake on repeat fluorodeoxyglucose-positron emission tomography/computed tomography. Endoscopic findings showed only nonspecific inflammatory findings, but pathological findings revealed the proliferation of cells with abundant foamy cytoplasms. Sufficient tumor volume was available to perform PCR for V600E mutation analysis, which was positive and resulted in a diagnosis of Erdheim-Chester disease with the V600E mutation. This is the first case of a patient with Erdheim-Chester disease with the V600E mutation identified in a sinus lesion. Endoscopic sinus surgery biopsy of the paranasal sinuses was considered to contribute to the histological and genetic diagnosis of Erdheim-Chester disease, particularly following the notable increase in fluorodeoxyglucose uptake.
额狄氏-切斯特病的特征是组织中泡沫状组织细胞的浸润。建议进行病变组织活检以确认诊断并确定突变状态。一名 52 岁男性因肾积水就诊于我院。计算机断层扫描显示左肾盂过渡区和主动脉周围软组织阴影增强。他接受了泼尼松龙 0.2mg/kg 治疗 1 年，但未见改善。氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描显示氟脱氧葡萄糖摄取在包括上颌窦在内的多个身体部位增加，提示为额狄氏-切斯特病。他拒绝进一步检查，上颌窦病变采用抗生素和鼻内类固醇治疗，但未见改善。两年后，他接受了上颌窦内镜鼻窦手术活检，重复氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描显示氟脱氧葡萄糖摄取增加最高。内镜检查仅显示非特异性炎症表现，但病理检查显示大量泡沫细胞质的细胞增殖。有足够的肿瘤体积可进行 V600E 突变分析的 PCR，结果为阳性，诊断为伴有 V600E 突变的额狄氏-切斯特病。这是首例在鼻窦病变中发现伴有 V600E 突变的额狄氏-切斯特病患者。鼻旁窦的内镜鼻窦手术活检被认为有助于额狄氏-切斯特病的组织学和遗传学诊断，尤其是在氟脱氧葡萄糖摄取显著增加后。
