Supplementary Material for: Histiocytosis Presenting as Bilateral Adrenal Masses: A Case Report

Adrenal masses are a rare diagnosis in children, with bilateral masses even less common. At present, appearance of the mass on imaging and histology can give important clues to the diagnosis, however there is significant overlap in 10-30% of cases and it can be difficult to distinguish benign from malignant adrenal masses. As a result, the clinical presentation remains a large part of the diagnostic process, as well as thorough Endocrinology evaluation to determine if the tumor is functional versus non-functioning. We present a recent case of bilateral adrenal masses in a pediatric patient at our institution, with an unusual diagnosis of Histiocytosis. In this case the diagnosis was unclear, until genetic testing and pathology allowed for expedient diagnosis and targeted therapy for this patient.

肾上腺肿物在儿童群体中属于罕见病症，双侧肾上腺肿物的发生率更为低下。当前，影像学与组织学层面的肿物表现可为诊断提供重要参考线索，但10%~30%的病例存在显著的表型重叠，难以区分良性与恶性肾上腺肿物。因此，临床表现仍是诊断流程的核心环节，同时需通过全面的内分泌学评估以明确肿瘤为功能性抑或非功能性。本文报告了本院近期收治的1例儿科双侧肾上腺肿物患者，其最终确诊为罕见的组织细胞增生症（Histiocytosis）。本例患者的诊断曾一度不明，直至通过基因检测与病理学检查得以快速明确诊断，并为该患者实施了靶向治疗。