Department of Pathology, Loma Linda University Medical Center, Loma Linda, California, USA.
Neuropathology. 2013 Feb;33(1):39-46. doi: 10.1111/j.1440-1789.2012.01323.x. Epub 2012 May 29.
Juvenile xanthogranulomas (JXG) are uncommon non-Langerhans cell histiocytic proliferations which arise most often in children. While most cases present as solitary cutaneous lesions, occasional cases involve extracutaneous sites. Rare examples of JXGs have been reported involving all levels of the neuroaxis. We present two cases of JXGs involving the nervous system, and review the literature. The first patient was a 14-year-old female with headaches and a mass involving the left trigeminal nerve; pathologic examination showed a JXG. At 11 months follow-up, after administration of systemic chemotherapy, the patient remained stable with residual tumor. The second patient was a 15-year-old female with leg weakness and numbness, who underwent complete surgical resection of a dural JXG. At eight months follow-up, she showed no evidence of tumor, and was able to walk without difficulty. Review of the literature revealed 38 previously published reports of JXGs involving the nervous system. The CNS was involved in the majority (75%) of cases. The clinical characteristics of JXGs arising in the CNS varied significantly from cases in the peripheral nervous system (PNS); CNS tumors occurred in younger patients, more often males, and were more likely to be associated with concurrent cutaneous and extra-nervous systemic lesions. The clinical outcomes were similar for CNS and PNS lesions, with the caveat that all three lethal JXGs occurred in the CNS. The clinical and radiologic presentation of JXGs is nonspecific, thus necessitating biopsy and pathologic examination to arrive at the diagnosis. The pathologic differential diagnosis includes a heterogeneous group of histiocytic proliferations; immunostaining for histiocytic markers CD68, factor XIIIa, and Fascin, and the absence of Birbeck granules and CD1a immunoexpression suggests the diagnosis of JXG. In many cases, total surgical resection is curative. However, some cases will require additional chemotherapy and/or radiotherapy.
幼年黄色肉芽肿（JXG）是一种罕见的非朗格汉斯细胞组织细胞增生症，多发生于儿童。虽然大多数病例表现为单发皮肤病变，但偶尔也会累及皮肤外部位。已有罕见的 JXG 累及中枢神经系统的病例报告。我们报告了两例累及神经系统的 JXG 病例，并复习了文献。第一例患者为 14 岁女性，表现为头痛和左侧三叉神经受累肿块；病理检查显示为 JXG。随访 11 个月后，患者接受全身化疗后病情稳定，仍有残留肿瘤。第二例患者为 15 岁女性，表现为下肢无力和麻木，行硬脑膜 JXG 完全切除术。随访 8 个月时，患者未见肿瘤，行走自如。文献复习发现 38 例先前发表的 JXG 累及神经系统的病例报告。中枢神经系统受累占多数（75%）。起源于中枢神经系统的 JXG 的临床特征与周围神经系统（PNS）的病例明显不同；中枢神经系统肿瘤发生于更年轻的患者，更多为男性，更可能与同时存在的皮肤和神经外全身病变相关。中枢神经系统和 PNS 病变的临床结局相似，但需要注意的是，所有三种致命性 JXG 均发生在中枢神经系统。JXG 的临床和影像学表现无特异性，因此需要进行活检和病理检查以明确诊断。病理鉴别诊断包括一组异质性的组织细胞增生症；组织细胞标志物 CD68、因子 XIIIa 和 Fascin 的免疫染色以及缺乏 Birbeck 颗粒和 CD1a 免疫表达提示 JXG 的诊断。在许多情况下，完全手术切除是可以治愈的。然而，有些病例可能需要额外的化疗和/或放疗。
