García-Gómez F J, Acevedo-Báñez I, Martínez-Castillo R, Tirado-Hospital J L, Cuenca-Cuenca J I, Pachón-Garrudo V M, Álvarez-Pérez R M, García-Jiménez R, Rivas-Infante E, García-Morillo J S, Borrego-Dorado I
Department of Nuclear Medicine, Virgen del Rocío Universitary Hospital, Seville, Spain.
Department of Nuclear Medicine, Virgen del Rocío Universitary Hospital, Seville, Spain.
Eur J Radiol. 2015 Aug;84(8):1586-1592. doi: 10.1016/j.ejrad.2015.04.022. Epub 2015 Apr 30.
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocitosis, characterized by multisystemic xanthogranulomatous infiltration by foamy histiocytes that stain positively for CD68 marker but not express CD1a and S100 proteins. Etiology and pathogenesis are still unknown and only about 500 cases are related in the literature. Multisystemic involvement leads to a wide variety of clinical manifestations that results in a poor prognosis although recent advances in treatment. We present the clinical, nuclear medicine findings and therapeutic aspects of a serie of 6 patients with histopathological diagnosis of ECD, who have undergone both bone scintigraphy (BS) and 18F-fluorodeoxyglucose (18FDG)-PET/CT scans in our institution. A complementary 18F-fluorodopa (18FDOPA)-PET/CT was performed in one case. Three different presentations of the disease were observed in our casuistic: most indolent form was a cutaneous confined disease, presented in only one patient. Multifocal involvement with central nervous system (CNS) preservation was observed in two patients. Most aggressive form consisted in a systemic involvement with CNS infiltration, presented in three patients. In our experience neurological involvement, among one case with isolate pituitary infiltration, was associated with mortality in all cases. 18FDG-PET/CT and BS were particularly useful in despite systemic involvement; locate the site for biopsy and the treatment response evaluation. By our knowledge, 18FDOPA-PET/CT not seems useful in the initial staging of ECD. A baseline 18FDG-PET/CT and BS may help in monitoring the disease and could be considered when patients were incidentally diagnosed and periodically 18FDG-PET/CT must be performed in the follow up to evaluate treatment response.
厄德里希-切斯特病（ECD）是一种罕见的非朗格汉斯细胞组织细胞增多症，其特征是多系统的黄色瘤样肉芽肿性浸润，由泡沫状组织细胞构成，这些细胞对CD68标记物呈阳性染色，但不表达CD1a和S100蛋白。病因和发病机制仍不清楚，文献中仅有约500例相关报道。尽管治疗方面有了新进展，但多系统受累导致了各种各样的临床表现，预后较差。我们介绍了6例经组织病理学诊断为ECD的患者的临床、核医学检查结果及治疗情况，这些患者在我们机构均接受了骨闪烁显像（BS）和18F-氟脱氧葡萄糖（18FDG）-PET/CT扫描。其中1例患者还进行了补充的18F-氟多巴（18FDOPA）-PET/CT检查。在我们的病例中观察到了该疾病的三种不同表现形式：最惰性的形式是仅局限于皮肤的疾病，仅1例患者出现。2例患者表现为多灶性受累但中枢神经系统（CNS）未受累。最具侵袭性的形式是系统性受累并伴有CNS浸润，3例患者出现。根据我们的经验，在1例孤立性垂体浸润的病例中，神经受累在所有病例中均与死亡相关。尽管存在全身受累，18FDG-PET/CT和BS在定位活检部位及评估治疗反应方面特别有用。据我们所知，18FDOPA-PET/CT在ECD的初始分期中似乎没有用处。基线18FDG-PET/CT和BS可能有助于监测疾病，当患者被偶然诊断时可考虑进行，并且在随访中必须定期进行18FDG-PET/CT以评估治疗反应。
