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目的 探讨肾小细胞型嗜酸细胞瘤（SCV-RO）的临床病理特征，以提高诊断与鉴别诊断水平。方法 收集5例SCV-RO的临床资料、组织学形态及免疫组化结果（抗体包括CD117、E-cadherin、Vimentin、CK7、Pax-8、CD10、CAIX、P504s、TFEB、TFE3、Cyclin D1、Ki-67等），并对其中2例进行CCND1基因重排的荧光原位杂交（FISH）检测，结合文献进行复习。结果 5例患者中男性2例，女性3例，年龄38～56岁。肿瘤边界清楚，镜下以胞质稀少、核质比高的小圆形细胞弥漫增生为主，均可见与典型嗜酸细胞区域的过渡区。免疫组化显示所有病例CD117和E-cadherin均弥漫强阳性，Vimentin、CD10、CAIX均阴性。3例Cyclin D1呈核弥漫强阳性，Ki-67增殖指数为5%～20%。对2例Cyclin D1强阳性病例进行FISH检测，均显示CCND1基因重排。术后随访9～152个月，所有患者均无疾病复发。结论 SCV-RO是肾嗜酸细胞瘤的罕见亚型，诊断需依赖形态学（小细胞与典型嗜酸细胞区域共存）及免疫表型（CD117、E-cadherin阳性，Vimentin阴性）。Cyclin D1核阳性提示可能存在CCND1基因重排，可作为一项有用的辅助诊断指标并为FISH验证提供线索。该肿瘤多数呈良性病程，但需与肾脏其他小细胞恶性肿瘤仔细鉴别。
Abstract：Objective To investigate the clinicopathologic features of small cell variant renal oncocytoma(SCVRO) and to improve diagnostic accuracy and differential diagnosis. Methods The clinical data, histological morphology, and immunohistochemical results of five cases of SCV-RO were retrospectively analyzed. The antibody panel included CD117, E-cadherin, vimentin, CK7, Pax-8, CD10, CAIX, P504s, TFEB, TFE3, cyclin D1, and Ki-67. Fluorescence in situ hybridization(FISH) for CCND1 gene rearrangement was performed in two cases. Relevant literature was also reviewed. Results The cohort consisted of two males and three females, aged from 38 to 56 years. All tumors were well circumscribed. Microscopically, the tumors were characterized by diffuse proliferation of small round cells with scanty cytoplasm and a high nuclear-to-cytoplasmic ratio, and a gradual transition from these small cells to areas with typical oncocytic morphology was observed in all cases. Immunohistochemically, all cases exhibited diffuse and strong positivity for CD117 and E-cadherin, while vimentin, CD10, and CAIX were negative. Three cases showed strongly nuclear positivity for cyclin D1. The Ki-67 proliferation index ranged from 5% to 20%. FISH analysis performed on two cases with strong Cyclin D1 positivity revealed CCND1 gene rearrangement in both. During postoperative follow-up(ranging from 9 to 152 months), all patients were alive without disease recurrence. Conclusions SCV-RO is a rare subtype of renal oncocytoma. Its diagnosis relies on the coexistence of small-cell areas and typical oncocytic regions in morphology, combined with a characteristic immunophenotype(positive for CD117 and E-cadherin and negative for vimentin). Nuclear expression of cyclin D1 suggests a potential CCND1 gene rearrangement, which can serve as a useful auxiliary diagnostic marker and provide clues for FISH verification. Although most tumors follow a benign clinical course, careful differentiation from other small-cell malignant renal tumors is essential.
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基本信息:
中图分类号:R737.11
引用信息:
[1]张学平,夏秋媛,王璇,等.肾小细胞型嗜酸细胞瘤临床病理分析[J].诊断病理学杂志,2026,33(02):149-153.
基金信息:
国家自然科学基金项目（编号：82273327）