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微囊性尿路上皮癌的形态学、免疫组织化学特征及临床表现:10 例系列病例。

Morphology, immunohistochemistry characteristics, and clinical presentation of microcystic urothelial carcinoma: a series of 10 cases.

机构信息

Department of Pathology, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, 250021, Shandong, P.R. China.

Department of Pathology, Dongying District People's Hospital, Dongying, 257000, Shandong, P.R. China.

出版信息

Diagn Pathol. 2023 Aug 19;18(1):94. doi: 10.1186/s13000-023-01381-1.

Abstract

BACKGROUND

Microcystic urothelial carcinoma (MUC) is a rare variant of urothelial carcinoma with histological appearances similar to begin lesions. Thus far, approximately 50 cases have been reported. Here, we investigated the clinicopathological features of MUC.

METHODS

Clinical data and paraffin-embedded tissue blocks were collected. Immunohistochemical staining and polymerase chain reaction-Sanger sequencing were performed to detect the phenotype and TERT mutation status of MUC, respectively.

RESULTS

The mean patient age was 58.8 ± 14.5 years, with a male predominance (8:2). The pathological stage was T1 in one case, T2 in three cases, T3 in four cases, and T4 in two cases. Tumor metastases or death occurred in all five patients who were followed up within 1-3 years. Histological analyses revealed microcystic, tubular, cribriform, and occasionally cord-like structures, which generally lacked interstitial reactions. The lumens were empty, contained eosinophilic secretion, or were filled with mucin. The microcysts/tubules/cribriform patterns were lined by flat, cuboid, signet ring, or columnar types of epithelia. The cuboid, signet ring, and columnar types represented "glandular metaplasia" or glandular differentiation of urothelial carcinoma. Immunohistochemistry analyses revealed distinct co-expression patterns involving the luminal markers FOXA1 and GATA3, as well as the basal markers CK5/6 and CD44. All 10 cases exhibited a luminal phenotype according to the GATA3+/CK14- criterion, whereas nine cases exhibited a luminal phenotype according to the FOXA1+/CK14- criterion. The telomerase reverse transcriptase-C228T mutation was detected in seven cases.

CONCLUSIONS

MUC is a rare variant with a deceptively benign form of urothelial carcinoma, which is generally identified as a late-stage tumor with a poor prognosis. It exhibits distinct co-expression of luminal and basal markers, along with the TERT-C228T mutation.

摘要

背景

微囊性尿路上皮癌(MUC)是一种罕见的尿路上皮癌变异型,其组织学表现类似于早期病变。迄今为止,大约报告了 50 例病例。在此,我们研究了 MUC 的临床病理特征。

方法

收集临床资料和石蜡包埋组织块。分别进行免疫组织化学染色和聚合酶链反应-Sanger 测序,以检测 MUC 的表型和 TERT 突变状态。

结果

患者平均年龄为 58.8±14.5 岁,男性占优势(8:2)。病理分期为 T1 期 1 例,T2 期 3 例,T3 期 4 例,T4 期 2 例。在 5 例随访 1-3 年内的患者中,均发生肿瘤转移或死亡。组织学分析显示微囊性、管状、筛状,偶尔呈索状结构,通常缺乏间质反应。管腔为空,含嗜酸性分泌物或充满黏液。微囊/小管/筛状模式由扁平、立方、印戒或柱状上皮排列。立方、印戒和柱状类型代表“腺性化生”或尿路上皮癌的腺分化。免疫组织化学分析显示,FOXA1 和 GATA3 等腔标志物以及 CK5/6 和 CD44 等基底标志物存在明显的共表达模式。根据 GATA3+/CK14-标准,10 例均表现为腔型表型,而根据 FOXA1+/CK14-标准,9 例表现为腔型表型。7 例检测到端粒酶逆转录酶-C228T 突变。

结论

MUC 是一种罕见的变异型,具有欺骗性的良性尿路上皮癌形式,通常被认为是一种晚期肿瘤,预后不良。它表现出明显的腔型和基底型标志物共表达,以及 TERT-C228T 突变。

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