DataSheet_1_Plasma miRNA expression profile in pediatric pineal pure germinomas.docx

BackgroundPure germinomas account for 40% of pineal tumors and are characterized by the lack of appreciable tumor markers, thus requiring a tumor biopsy for diagnosis. MicroRNAs (miRNA) have emerged as potential non-invasive biomarkers for germ cell tumors and may facilitate the non-invasive diagnosis of pure pineal germinomas.
Material and methodsA retrospective chart review was performed on all patients treated at the Children’s Cancer Hospital Egypt diagnosed with a pineal region tumor between June 2013 and March 2021 for whom a research blood sample was available. Plasma samples were profiled for miRNA expression, and DESeq2 was used to compare between pure germinoma and other tumor types. Differentially expressed miRNAs were identified. The area under the curve of the receive;r operating characteristic curve was constructed to evaluate diagnostic performance.
ResultsSamples from 39 pediatric patients were available consisting of 12 pure germinomas and 27 pineal region tumors of other pathologies, including pineal origin tumors [n = 17; pineoblastoma (n = 13) and pineal parenchymal tumors of intermediate differentiation (n = 4)] and others [n = 10; low-grade glioma (n = 6) and atypical teratoid rhabdoid tumor (n = 4)]. Using an adjusted p-value <0.05, three miRNAs showed differential expression (miR-143-3p, miR-320c, miR-320d; adjusted p = 0.0058, p = 0.0478, and p = 0.0366, respectively) and good discriminatory power between the two groups (AUC 90.7%, p < 0.001) with a sensitivity of 25% and a specificity of 100%.
ConclusionOur results suggest that a three-plasma miRNA signature has the potential to non-invasively identify pineal body pure germinomas which may allow selected patients to avoid the potential surgical complications.

背景 纯生殖细胞瘤占松果体肿瘤的40%，其特征为无明显可检测的肿瘤标志物，因此需通过肿瘤活检以明确诊断。微小核糖核酸（microRNAs, miRNA）已被证实可作为生殖细胞肿瘤的潜在非侵入性生物标志物，或可助力纯松果体生殖细胞瘤的非侵入性诊断。
材料与方法 本研究对2013年6月至2021年3月期间，在埃及儿童癌症医院接受治疗、确诊为松果体区肿瘤且留存研究用血液样本的所有患者开展回顾性病历回顾。对血浆样本进行miRNA表达谱分析，并采用DESeq2工具比较纯生殖细胞瘤与其他肿瘤类型的表达差异，筛选出差异表达的miRNA。构建受试者工作特征（Receiver Operating Characteristic, ROC）曲线的曲线下面积（AUC）以评估诊断效能。
结果 本研究共纳入39例儿科患者的样本，其中12例为纯生殖细胞瘤，27例为其他病理类型的松果体区肿瘤，包括17例松果体起源肿瘤[13例松果体母细胞瘤、4例中间分化型松果体实质肿瘤]以及10例其他肿瘤[6例低级别胶质瘤、4例非典型畸胎样横纹肌样瘤]。以校正后P值<0.05为阈值，筛选出3个差异表达的miRNA（miR-143-3p、miR-320c、miR-320d，校正后P值分别为0.0058、0.0478、0.0366），二者在两组间具有良好的鉴别效能（AUC=90.7%，P<0.001），灵敏度为25%，特异度为100%。
结论 本研究结果表明，血浆miRNA三联标志物可实现非侵入性识别松果体纯生殖细胞瘤，有望使部分患者免于手术相关并发症的风险。