Jagelkova Marianna, Zelinova Katarina, Laucekova Zuzana, Bobrovska Martina, Dankova Zuzana, Grendar Marian, Dokus Karol
Division of Oncology, Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava (JFM CU), Martin, Slovakia.
Clinic of Gynecology and Obstetrics, Martin University Hospital (MUH) and JFM CU, Martin, Slovakia.
Biores Open Access. 2020 Mar 13;9(1):73-79. doi: 10.1089/biores.2019.0031. eCollection 2020.
Ovarian carcinogenesis can be induced by a large number of somatic gene mutations. Circulating tumor DNA (ctDNA) released into peripheral blood can provide insights into the genomic landscape of cancer cells and monitor their dynamics. Our aim was to detect and compare the genetic profiles in tumor tissue and plasma before and after tumor resection in ovarian cancer patients. All three samples were collected from each patient. In this study, we used a commercial cancer panel to identify somatic mutations in 26 genes in seven selected patients through next-generation sequencing on the Illumina platform. Overall, 16 variants with pathogenic effect were identified in the , , , , , , , and genes involved in important signaling pathways. The genetic alterations found in the presurgical plasma in six of seven ovarian cancer patients were no longer present in the plasma after tumor surgical removal. Identical variants in formalin-fixed paraffin embedded (FFPE) tissues and preoperative plasma specimens were observed in only two cases. These findings suggest that the detected presurgical pathogenic variants absent in postsurgery plasma are associated with the primary ovarian tumor. Finally, the low-identified concordance between FFPE and plasma can be due to various factors, but most likely to high tumor heterogeneity and low ctDNA level.
卵巢癌的发生可由大量体细胞基因突变诱发。释放到外周血中的循环肿瘤DNA（ctDNA）能够为癌细胞的基因组格局提供线索并监测其动态变化。我们的目的是检测并比较卵巢癌患者肿瘤切除前后肿瘤组织和血浆中的基因图谱。从每位患者身上采集所有三种样本。在本研究中，我们使用了一种商用癌症检测板，通过在Illumina平台上进行下一代测序，来鉴定7例选定患者中26个基因的体细胞突变。总体而言，在参与重要信号通路的 、 、 、 、 、 、 和 基因中鉴定出16个具有致病效应的变异。7例卵巢癌患者中有6例在术前血浆中发现的基因改变在肿瘤手术切除后的血浆中不再存在。仅在2例病例中观察到福尔马林固定石蜡包埋（FFPE）组织和术前血浆标本中存在相同变异。这些发现表明，术后血浆中未检测到的术前致病变异与原发性卵巢肿瘤有关。最后，FFPE与血浆之间一致性较低可能是由于多种因素，但最有可能是肿瘤异质性高和ctDNA水平低。
