Abdellatif Eman Mohamed, Hegazy Neamat Elsayed, Nassar Eman Saad
Department of Clinical Pathology, Faculty of Medicine, Alexandria University, El Azzarita, El Khartoum Square, Alexandria, 21521, Egypt.
Department of Clinical Oncology and Nuclear Medicine, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Mol Biol Rep. 2025 Jan 29;52(1):174. doi: 10.1007/s11033-024-10210-7.
The identification of circulating potential biomarkers may help earlier diagnosis of breast cancer, which is critical for effective treatment and better disease outcomes. We aimed to study the role of circ-FAF1 as a diagnostic biomarker in female breast cancer using peripheral blood samples of these patients, and to investigate the relation between circ-FAF1 and different clinicopathological features of the included patients.
This case-control study enrolled 60 female breast cancer patients and 60 age-matched healthy control subjects. For all study subjects, serum samples were collected for RNA extraction followed by reverse transcription and quantitative real time polymerase chain reaction for circ-FAF1 relative expression level. Serum circ-FAF1 was significantly downregulated in the studied patients compared to control subjects (p < 0.001). Low expression level of circ-FAF1 was significantly associated with presence of lymph node spread (p < 0.001), positive metastasis (p = 0.002), estrogen receptor negativity (p < 0.001), HER2 positivity (p < 0.001), and it was moderately correlated with higher Ki-67 index (r=-0.429, p = 0.001). However, circulating circ-FAF1 level had no statistically significant correlation with progesterone receptor status (p = 0.053), tumor histopathological type (p = 0.895) and histological grade (p = 0.369). Using ROC curve, serum circ-FAF1 had an AUC of 0.885, 81.67% diagnostic sensitivity and 76.67% diagnostic specificity.
Serum level of circ-FAF1 is a promising biomarker that can help in diagnosis of breast cancer. The low expression in breast cancer was correlated with lymph node spread, presence of metastasis, and with histopathological parameters suggestive of a worse outcome in these patients.
循环中潜在生物标志物的鉴定有助于乳腺癌的早期诊断，这对有效治疗和改善疾病预后至关重要。我们旨在利用这些患者的外周血样本研究环状脂肪酸合酶1（circ-FAF1）作为女性乳腺癌诊断生物标志物的作用，并探讨circ-FAF1与纳入患者不同临床病理特征之间的关系。
本病例对照研究纳入了60例女性乳腺癌患者和60例年龄匹配的健康对照者。对所有研究对象采集血清样本用于RNA提取，随后进行逆转录和实时定量聚合酶链反应以检测circ-FAF1的相对表达水平。与对照者相比，研究患者血清中的circ-FAF1显著下调（p < 0.001）。circ-FAF1低表达水平与淋巴结转移（p < 0.001）、远处转移阳性（p = 0.002）、雌激素受体阴性（p < 0.001）、人表皮生长因子受体2（HER2）阳性（p < 0.001）显著相关，并且与较高的Ki-67指数呈中度相关（r = -0.429，p = 0.001）。然而，循环circ-FAF1水平与孕激素受体状态（p = 0.053）、肿瘤组织病理学类型（p = 0.895）和组织学分级（p = 0.369）无统计学显著相关性。利用受试者工作特征（ROC）曲线，血清circ-FAF1的曲线下面积（AUC）为0.885，诊断敏感性为81.67%，诊断特异性为76.67%。
血清circ-FAF1水平是一种有前景的生物标志物，可有助于乳腺癌的诊断。乳腺癌中的低表达与淋巴结转移、远处转移的存在以及提示这些患者预后较差的组织病理学参数相关。
