摘要
目的探讨肾脏内肿瘤成分为透明细胞肾细胞癌(clear cell renal cell carcinoma,ccRCC)合并朗格汉斯细胞组织细胞增生症(Langerhans cell histiocytosis,LCH)的碰撞瘤的临床病理及分子遗传学特征。方法回顾性分析1例肾脏碰撞瘤的临床资料、影像学、病理形态及免疫表型,并进行随访及全外显子组测序。结果患者以左侧腰部胀痛为临床表现,影像学表现为左肾下极团块状软组织占位影,考虑肾癌。镜检:低倍镜下大部分为片状分布淡染区,部分为弥漫分布的深染区,其间混杂部分淋巴细胞及嗜酸性粒细胞。高倍镜下肿瘤由两种成分混杂构成,部分区见肿瘤呈腺泡状或巢片状排列,其间可见丰富毛细血管网结构。细胞胞质丰富、透明,细胞核呈卵圆形,可见小核仁;部分区于嗜酸性粒细胞、淋巴细胞及多核巨细胞混杂的背景中见组织细胞样细胞散在分布,胞质淡粉染,核形不规则、可见核沟。免疫表型:ccRCC不同程度表达Pax-8、vimentin、CD10、CA9,不表达TFE3、p504S、HMB45、Melan A及CD117,Ki-67增殖指数1%;LCH表达CD1a、Langerin、S-100,Ki-67增殖指数20%。全外显子组测序显示:肿瘤内未发现ccRCC及LCH常见基因异常,存在5q15染色体扩增、14q24.3及14q24.2-q31.1染色体缺失。结论发生于肾脏内肿瘤成分为ccRCC合并LCH的碰撞瘤极其罕见,明确病理诊断、完善分子病理特征及密切随访患者情况,对碰撞瘤的发生机制及临床治疗方案、预后预测具有重要意义。
Purpose To investigate the clinicopathological and molecular genetic characteristics of clear cell renal cell carcinoma(ccRCC)with Langerhans cell histiocytosis(LCH).Methods The clinical data,imaging,pathological morphology and immunohistochemistry of this renal collisional tumor were analyzed retrospectively,followed up cases and whole exome sequencing were performed.Results The clinical manifestation of the patient was left lumbar distention and pain.The imaging findings were a mass of left lower pole of kidney.Renal cacinoma was considered.Histopathological observation showed that at low magnification,most of the neoplasms were patchy and weakly stained areas,mixed with some lymphocytes and eosinophils.At high magnification,the tumor was composed of two components.In some areas,the tumor was arranged in alveolar or nest shape,and abundant capillary network structure was noted.The cell cytoplasm was abundant and transparent,and the nucleus was oval with small nucleoli.In some areas,histocytoid cells were scattered in the mixed background of eosinophils,lymphocytes and multinucleated giant cells,with light pink cytoplasm,irregular nucleation and nuclear furrows.Immunohistochemical ccRCC expression of Pax-8,vimentin,CD10 and CA9,TFE3,P504S,HMB45,Melan A and CD117 was not expressed,Ki-67 positive index was 1%.LCH expressed CD1a,Langerin and S-100,Ki-67 positive index was 20%.Total exome sequencing showed that common ccRCC and LCH gene abnormalities were not found in the tumor.Amplification of chromosome 5q15,deletion of chromosomes 14q24.3 and 14q24.2-q31.1 were found.Conclusion The collision tumor occurring in kidney of ccRCC combined with LCH is extremely rare.It is of great significance to clarify the pathological diagnosis,to improve the understanding of the molecular pathological features and pathogenesis of this collision tumor and to closely follow up the patients for the clinical treatment and prognosis prediction.
作者
詹媛
葛娴
张翔
李声鸿
万红萍
ZHAN Yuan;GE Xian;ZHANG Xiang;LI Sheng-hong;WAN Hong-ping(Department of Pathology,the First Affiliated Hospital of Nanchang University,Nanchang 330006,China;Department of Imaging,the First Affiliated Hospital of Nanchang University,Nanchang 330006,China)
出处
《临床与实验病理学杂志》
CAS
北大核心
2023年第3期287-291,共5页
Chinese Journal of Clinical and Experimental Pathology
基金
江西省卫生健康委科技计划项目(202310467)。
