Abstract：
The accurate diagnosis of skin adnexal neoplasms is sometimes challenging but is necessary because medical management and follow-up may differ between tumors. GATA6 transcription factor has been identified as a new marker of the upper folliculosebaceous compartment (lower infundibulum, junctional zone and isthmus, and upper sebaceous gland) in the human skin. We aimed to determine the diagnostic accuracy of GATA6 immunostaining to diagnose sebaceous tumors compared with that to diagnose other adnexal and nonadnexal cutaneous neoplasms. We conducted a retrospective, evaluator-nonblinded study comparing the reference standard (diagnosis by an expert dermatopathologist) with GATA6 immunostaining to identify sebaceous tumors in a cohort containing 234 different tumors. The GATA6 expression score was significatively higher in sebaceous than that in nonsebaceous tumors. In addition, tumors originating from the upper hair follicle showed positive results for GATA6 staining; however, they showed lower GATA6 expression scores. Detection of sebaceous tumors using GATA6 positivity had a sensitivity of 95.7% (95% CI, 85.8-99.2), specificity of 80.8% (95% CI, 74.5-85.8), positive predictive value of 55.6% (95% CI, 44.7-65.9), and negative predictive value of 98.7% (95% CI, 95.4-99.8). GATA6 showed similar sensitivity to adipophilin, the reference marker; however, the specificity of GATA6 was higher, as observed in a cohort of 106 tumors enriched in squamous cell carcinomas with clear-cell histology. In addition, GATA6 positivity was assessed in 39 sebaceous carcinomas and compared with epithelial membrane antigen (EMA), CK7, and androgen receptor (AR) staining results. Although CK7 staining displayed lower diagnostic performances, GATA6 staining showed comparable results as EMA and AR. Finally, we found GATA6 expression in skin metastases of gastrointestinal origin, whereas GATA6 was absent in metastases originating from breast or lung cancers. Overall, our work identified GATA6 immunostaining as a new diagnostic tool for sebaceous tumors.
摘要：
皮肤附件肿瘤的准确诊断有时具有挑战性，但由于肿瘤的医疗管理和随访可能有所不同，因此是必要的。GATA6转录因子已被确定为上卵泡皮脂腺区室的新标记（下漏斗，连接区和峡部，和上皮脂腺）在人类皮肤中。我们旨在确定与诊断其他附件和非附件皮肤肿瘤相比，GATA6免疫染色诊断皮脂腺肿瘤的诊断准确性。我们做了一个回顾,评估者-非盲研究比较参考标准（由专家皮肤病理学诊断）与GATA6免疫染色，以识别包含234个不同肿瘤的队列中的皮脂腺肿瘤。皮脂腺肿瘤的GATA6表达评分明显高于非皮脂腺肿瘤。此外,源自上毛囊的肿瘤对GATA6染色呈阳性；然而，他们显示较低的GATA6表达评分。使用GATA6阳性检测皮脂腺肿瘤的灵敏度为95.7%(95%置信区间[95%CI],85.8-99.2),特异性为80.8%（95%CI，74.5-85.8），阳性预测值为55.6%（95%CI，44.7-65.9），阴性预测值为98.7%（95%CI，95.4-99.8）。GATA6对脂肪亲素的敏感性相似，参考标记；然而，GATA6的特异性更高，如在106个富含鳞状细胞癌的透明细胞组织学的肿瘤队列中观察到的。此外,在39例皮脂腺癌中评估了GATA6阳性，并与上皮膜抗原（EMA）进行了比较。CK7和雄激素受体(AR)染色成果。尽管CK7染色显示出较低的诊断性能，GATA6染色显示与EMA和AR相当的结果。最后,我们发现GATA6在胃肠道来源的皮肤转移中表达，而GATA6在源自乳腺癌或肺癌的转移中不存在。总的来说,我们的工作确定GATA6免疫染色是皮脂腺肿瘤的新诊断工具.
