Guo Shuangping, Yan Qingguo, Rohr Joseph, Wang Yingmei, Fan Linni, Wang Zhe
Department of Pathology, Xijing Hospital, the Fourth Military Medical University, Xi'an, Shan Xi Province, 710032, China.
Department of Pathology, Xijing Hospital, the Fourth Military Medical University, Xi'an, Shan Xi Province, 710032, China.
Hum Pathol. 2015 Jan;46(1):159-64. doi: 10.1016/j.humpath.2014.10.005. Epub 2014 Oct 18.
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by multisystem infiltration by foamy histiocytes surrounded by fibrosis. ECD often involves the long bones, skin, and retroperitoneum, whereas breast involvement is very rare with only 6 reported cases in English literature. We report a case of ECD presenting within the right breast as a clinically malignant tumor, in addition to bilateral sclerotic lesions of the femurs, bilateral soft tissue masses of the cerebellum, and multiple subcutaneous nodules on the abdominal wall in a 61-year-old woman. Histologically, there was a prominent infiltrate of foamy histiocytes with scattered Touton-type giant cells, lymphocytes, and plasma cells. The foamy histiocytes were arranged in small clusters or scattered singly in the background of fibrosis. However, in some areas, there was a prominent proliferation of fibrosis with scant cellular infiltrate including histiocytes. The diagnosis of ECD was made by characteristic histopathologic features in addition to clinical-radiographic features and the typical immunoprofile (positive for cluster of differentiation 68 [CD68], CD163, and p16; negative for CD1a and S-100). Although rare, ECD must be considered in the differential diagnosis of clinically malignant tumor of the breast. To our knowledge, this is the second case of ECD involving the breast in which a valine 600 glutamic acid mutation was detected, which probably represents a clonal disorder of non-Langerhans cells.
厄尔德海姆-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，其特征是泡沫状组织细胞多系统浸润并伴有纤维化。ECD常累及长骨、皮肤和腹膜后，而乳腺受累非常罕见，英文文献中仅报道过6例。我们报告一例61岁女性，其右乳出现ECD，表现为临床恶性肿瘤，同时伴有双侧股骨硬化性病变、双侧小脑软组织肿块和腹壁多个皮下结节。组织学上，可见大量泡沫状组织细胞浸润，散在分布着图顿型巨细胞、淋巴细胞和浆细胞。泡沫状组织细胞呈小簇状排列或单个散在于纤维化背景中。然而，在某些区域，纤维化显著增生，细胞浸润稀少，包括组织细胞。ECD的诊断依据特征性组织病理学表现，以及临床影像学特征和典型免疫表型（分化簇68 [CD68]、CD163和p16阳性；CD1a和S-100阴性）。尽管罕见，但在乳腺临床恶性肿瘤的鉴别诊断中必须考虑ECD。据我们所知，这是第二例累及乳腺的ECD病例，其中检测到缬氨酸600谷氨酸突变，这可能代表非朗格汉斯细胞的克隆性疾病。
