BHD综合征相关性杂合性嗜酸性肾肿瘤的临床病理特点及诊断  

Clinicopathological features and diagnosis of Birt-Hogg-Dube syndrome-associated hybrid oncocytic tumor

作　　者：刘燕 王彦[2] 李云霞 于文娟[2] 蒋艳霞[2] 李玉军[2] 张伟 LIU Yan;WANG Yan;LI Yun-xia;YU Wen-juan;JIANG Yan-xia;LI Yu-jun;ZHANG Wei(Department of Pathology,971 Hospital of PLA Navy,Qingdao 266071,China;Department of Pathology,the Affiliated Hospital of Qingdao University,Qingdao 266003,China)

机构地区：[1]海军第九七一医院病理科,山东青岛266071 [2]青岛大学附属医院病理科,山东青岛266003

出　　处：《诊断病理学杂志》2024年第11期1050-1054,共5页Chinese Journal of Diagnostic Pathology

基　　金：青岛市医药科研指导计划项目(2020⁃WJZD198);山东省医药卫生科技发展计划项目(2019WS610)。

摘　　要：目的探讨BHD综合征相关性杂合性嗜酸性肾肿瘤(BHD-HOT)的临床病理学特点及诊断,以提高对该类肾肿瘤的认识。方法收集3例发生在BHD综合征患者的杂合性嗜酸性肾肿瘤,回顾性总结患者的临床病理资料,进行形态学观察、免疫组织化学染色及分子学检测,并进行相关文献复习。结果3例均为男性,年龄56~77岁(平均年龄66.5岁)。1例同时具有双肺囊肿伴气胸、皮肤丘疹、肾肿瘤病变,另2例除肾肿瘤外,1例伴有皮肤丘疹,另1例伴有双肺囊肿/气胸病史。2例为双侧性和多灶性。肿瘤直径0.8~4 cm(平均2.3 cm),切面灰红、灰黄色,边界清楚。组织学上,3例均可见混杂分布的低级别嗜酸细胞和透明细胞呈“马赛克样”排列。免疫组织化学:3例瘤细胞均呈Vimentin阴性,CD117斑片状弱~中等阳性(主要在嗜酸细胞)。2例CK7散在阳性(主要在透明细胞),Ki-67增殖指数均小于3%。2例全外显子测序结果表明均存在FLCN基因胚系突变,未发现VHL、TSC1、TSC2、MTOR和ELOC(TCEB1)等其他有意义的伴随突变。3例随访38~126个月,均未见复发或转移。结论多灶性或双侧性发生、低级别嗜酸细胞和簇状透明细胞混杂分布呈马赛克样排列对BHD综合征相关肾肿瘤的诊断具有重要提示作用,而肺、皮肤等肾外病变的出现有助于该肿瘤的诊断,存在FLCN基因胚系突变是该肿瘤确诊的金标准。Objective To investigate the clinicopathological characteristics and diagnosis of Birt-Hogg-Dubésyndrome-associated hybrid oncocytic tumor(BHD-HOT)and to enhance understanding of this type of kidney tumor.Methods Three cases of hybrid oncocytic renal tumors in patients with BHD syndrome were collected.The clinicopathological data of the patients were retrospectively summarized.Morphological observations,immunohistochemical staining,and molecular detection were performed,followed by a literature review.Results All three patients were male,aged 56 to 77 years(average age:66.5 years).One patient presented with double lung cysts accompanied by pneumothorax,skin papules,and renal tumor lesions.For the other two patients,one manifested skin papules in addition to renal tumors,while the other had a history of double lung cysts and pneumothorax.Two cases were identified as bilateral and multifocal.Tumor diameters ranged from 0.8 to 4 cm(average:2.3 cm),with section surfaces appearing gray-red and gray-yellow,and exhibiting clear boundaries.Histological examination revealed a mixed distribution of low-grade eosinophilic and clear cells in a"mosaic-like"arrangement in all three cases.Immunohistochemical analysis indicated that tumor cells in all three cases were negative for Vimentin,while CD117 showed weak to moderate patchy positivity,primarily in eosinophilic cells.In two cases,CK7 displayed scattered positivity,predominantly in clear cells.The Ki-67 proliferation index was less than 3%.Whole-exome sequencing results revealed germline mutations in the FLCN gene in both cases,without the presence of other significant companion mutations such as VHL,TSC1,TSC2,MTOR,or ELOC(TCEB1).The three patients were followed for 38 to 126 months,during which no recurrence or metastasis was observed.Conclusion The multifocal or bilateral occurrence of tumors and the mixed distribution of low-grade eosinophilic and clustered clear cells in a mosaic-like arrangement play a crucial role in diagnosing renal tumors associated with BHD syndr

关 键 词：Birt-Hogg-Dubé综合征 杂合性嗜酸性肾肿瘤 卵泡刺激素 肾细胞癌 诊断 鉴别 

分 类 号：R737.11[医药卫生—肿瘤]