眼睑原发性印戒细胞/组织细胞样癌:e -钙粘蛋白/β-连环蛋白复合物及相关遗传改变的临床病理分析

IF 0.7 Q4 PATHOLOGY Case Reports in Pathology Pub Date : 2021-11-11 eCollection Date: 2021-01-01 DOI:10.1155/2021/6628150
Maria Del Valle Estopinal, Lavinia P Middleton, Bita Esmaeli, Keyur P Patel, Sara Nowroozizadeh, Michelle D Williams
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引用次数: 2

摘要

眼睑印戒细胞(SRC)/组织细胞样癌是一种罕见的肿瘤,与弥漫性胃癌和乳腺小叶癌在组织学和免疫组织化学上有相似之处。编码e -钙粘蛋白的CDH1基因是与这些肿瘤相关的最广为人知的基因。e -钙粘蛋白的结构和功能完整性受到可能参与该疾病发展的相互连接的分子途径的调节。因此,我们分析了与眼睑原发性SRC/组织细胞样癌相关的e -cadherin相关通路中关键基因的蛋白表达。对1990年至2016年MD安德森癌症中心诊断的眼睑/眼眶SRC/组织细胞样癌进行评估。临床病理检查结果证实原发部位。免疫组化检测E-cadherin、β-catenin、c-Myc、Cyclin D1、Src和p53的表达。下一代测序检测体细胞突变对每个肿瘤与匹配的正常组织,检查50个癌症相关基因。在4例年龄40-82岁的男性患者中诊断出4例原发性眼睑SRC/组织细胞样癌。免疫组化结果显示,2例E-cadherin表达缺失的肿瘤β-catenin表达较弱,Src细胞质染色较低,2例E-cadherin完整的肿瘤β-catenin表达较强,Src细胞质表达较高。Cyclin D1局灶性阳性3例。在两例病例中检测到CDH1、PIK3CA和TP53基因的体细胞突变。我们的研究结果表明,E-cadherin/β-catenin通路的收敛异常可能通过诱导癌基因如Cyclin D1和C-Myc的表达来促进肿瘤的发生。CDH1、PIK3CA和TP53基因突变可诱导E-cadherin功能障碍,参与该恶性肿瘤的发生发展。
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Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Clinicopathologic Analysis with Evaluation of the E-Cadherin/β-Catenin Complex and Associated Genetic Alterations.

Signet Ring Cell (SRC)/Histiocytoid carcinoma of the eyelid is a rare neoplasm that shares histological and immunohistochemical similarities with diffuse gastric cancer and breast lobular carcinoma. The CDH1 gene, which encodes the E-cadherin protein, is the best known gene associated with these tumors. The structural and functional integrity of E-cadherin is regulated by interconnecting molecular pathways which might participate in the development of this disease. Hence, we analyzed the protein expression in key genes in E-cadherin-related pathways associated with primary SRC/Histiocytoid carcinoma of the eyelid. SRC/Histiocytoid carcinoma diagnosed in the eyelid/orbit at MD Anderson Cancer Center from 1990 to 2016 were evaluated. Clinicopathologic findings were studied to confirm the primary site of origin. Immunohistochemical studies for the expression of E-cadherin, β-catenin, c-Myc, Cyclin D1, Src, and p53 were analyzed. Next generation sequencing for the detection of somatic mutations was performed on each tumor with matched normal tissue, examining 50 cancer-related genes. Four primary SRC/Histiocytoid carcinomas of the eyelid were diagnosed in four male patients aged 40-82 years. Immunohistochemically, two tumors with loss of E-cadherin expression had weak β-catenin and low cytoplasmic staining for Src while the other two cases with intact E-cadherin showed strong β-catenin expression and high cytoplasmic expression for Src. Cyclin D1 was focally positive in three cases. Somatic mutations in CDH1, PIK3CA, and TP53 genes were detected in two cases. Our results suggest an abnormality in the convergence of E-cadherin/β-catenin pathways which may promote tumorigenesis by inducing expression of oncogenes such as Cyclin D1 and C-Myc. Mutations in CDH1, PIK3CA, and TP53 genes could induce E-cadherin dysfunction which takes part in the development and progression of this malignancy.

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