原发性组织细胞肉瘤2例临床病理观察

Primary histiocytic sarcoma: a clinicopathologic study of two cases

目的探讨原发性组织细胞肉瘤(HS)的临床病理特征、诊断与鉴别诊断以及治疗与预后。方法对2012—2016年2例原发性HS患者标本进行临床病理学观察,并结合国内外文献进行复习。结果例1,男,38岁,反复低热3月余。检查发现双侧颈前及锁骨上区多枚淋巴结肿大。入院后行淋巴结活检。例2,女,21岁,因右上肢疼痛1月余伴病理性骨折入院。入院后行"右肱骨近端肿瘤刮除植骨内固定术"。镜下大量单核组织样细胞弥漫分布。瘤细胞体积大,胞质嗜酸或空泡状,核呈圆形、卵圆形,异型明显,病理性核分裂象多见。免疫组化:肿瘤细胞CD68、CD163、lysozyme均(+),SMA、desmin、CD3、S-100、CD30、CD20、CD43、EMA、HMB45、CD21/35、Clusterin、Langerin、CD1a均(-)。例2,BRAF V600E(+)。病理诊断:2例均确诊为组织细胞肉瘤,其中1例存在BRAF V600E基因突变。结论组织细胞肉瘤是一种高度恶性的肿瘤,临床表现缺乏特异性,诊断有赖于病理组织形态学及免疫组织化学检查,并应与淋巴造血系统其他恶性肿瘤进行鉴别。针对BRAF V600E基因突变的患者使用靶向药物威罗菲尼治疗取得了一定的疗效,但仍需进一步大规模临床验证。

Objective To discuss the clinical pathological features,diagnosis,differential diagnosis,treatment and prognosis of primary histocytic sarcoma（ HS）. Methods The clinical pathological characteristics of 2 cases of primary HS（ 2012—2016） were observed,and related literature was reviewed. Results Case 1 38-year-old male presented with recurrent fever for 3 months. Multiple lymph nodes enlargement was found in the bilateral anterior and supraclavicular regions. After the admission the lymph node biopsy was performed. Case 2,female,21 years old,presented the right upper extremity pain with pathological fracture for 1 month. The performence of right proximal humerus tumor curettage and bone grafting and internal fixation was conducted after the admission. Microscopically,a large number of mononuclear like tissue cells were diffusely distributed. The tumor cells were large in size,eosinophilic or vacuolated in cytoplasm,and the nuclei showed round,oval and irregular. The pathological mitotic figures were common. Immunohistochemically,the tumor cells showed positive for CD68,CD163 and lysozyme,and negative for SMA,Desmin,CD3,S-100,CD30,CD20,CD43,EMA,HMB45,CD21/35,Clusterin,Langerin and CD1 a. There was a BRAF V600 E mutation in case 2.Conclusion Histiocytic sarcoma is a highly malignant tumor with a lack of specificity in clinical manifestations. The diagnosis is made by pathological morphology and immunohistochemistry. The tumor should be differentiated from other malignancies of the hematopoietic system. For patients with BRAF V600 E mutation,the use of vemurafenib targeted therapy may achieve some efficacy,but still needs a large-scale clinical verification.