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首页> 外文期刊>Journal of cutaneous pathology >Loss of ZNF750 in ocular and cutaneous sebaceous carcinoma
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Loss of ZNF750 in ocular and cutaneous sebaceous carcinoma

机译：ZNF750在眼皮和皮带皮脂腺癌中的丧失

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Abstract Background Sebaceous carcinoma (SeC) is an uncommon malignancy arising from sebaceous glands of the conjunctiva and skin. Recurrent mutations in the ZNF750 were recently identified in ocular SeC. We assessed whether ZNF750 loss is a specific feature of ocular SeC or a general feature of sebaceous tumors. Methods Immunostaining for ZNF750 expression was performed in 54 benign and malignant sebocytic proliferations. Staining for ZNF750 was scored on a three‐tier scale: positive (75%), partially positive (5%‐74%), and negative (5%). Results ZNF750 expression was negative in 4/11 ocular SeC, and partially positive in 4/11 ocular SeC and 6/13 cutaneous SeC. No extraocular tumors were negative. No loss was found in sebaceous adenoma or sebaceous hyperplasia. In nine previously sequenced ocular SeCs, two lacked detectable somatic mutations in ZNF750, but showed complete loss of staining, indicating non‐mutational inactivation of ZNF750. Conclusion We show complete loss of the ZNF750 epidermal differentiation regulator in about half of ocular SeC, highlighting the most common genetic defect in this cancer type. Loss of ZNF750 expression is seen even in tumors without truncating mutations and reduced in many of the remaining ocular and cutaneous SeC. In contrast, no ZNF750 loss was detected in benign sebaceous proliferations.
机译：摘要背景皮脂腺癌（SEC）是来自结膜和皮肤的皮脂腺引起的罕见恶性肿瘤。最近在眼秒鉴定出ZNF750中的复发突变。我们评估了ZnF750损失是眼秒的特征还是皮脂腺肿瘤的一般特征。方法在54个良性和恶性肿瘤卵细胞增殖中进行ZnF750表达的免疫染色。 ZnF750的染色得分为三层尺度：阳性（＆ 75％），部分阳性（5％-74％），阴性（＆ 5％）。结果ZNF750表达在4/11眼秒，并且在4/11眼秒和6/13皮肤秒内部分阳性。没有面向肿瘤是阴性的。在皮脂腺腺瘤或皮脂腺增生中没有发现损失。在九个以前测序的眼秒，ZNF750中的两种缺乏可检测的体细胞突变，但显示出完全的染色损失，表明ZNF750的非突变灭活。结论我们在大约一半的眼秒内显示出ZnF750表皮分化调节剂的完全丧失，突出了这种癌症类型中最常见的遗传缺陷。即使在没有截断突变的情况下，甚至在肿瘤中也可以看到ZnF750表达的丧失，并且在许多剩余的眼镜和皮肤秒中减少。相比之下，在良性皮脂腺增殖中没有检测到ZNF750损失。

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