Bajdak-Rusinek K, Diak N, Gutmajster E, Fus-Kujawa A, Stępień K L, Wójtowicz W, Kalina M, Mandera M
Department of Medical Genetics, Medical University of Silesia, Katowice, Poland.
Biotechnology Centre, Silesian University of Technology, Gliwice, Poland.
Childs Nerv Syst. 2024 Dec 23;41(1):68. doi: 10.1007/s00381-024-06731-y.
Adamantinomatous craniopharyngiomas (ACP) are rare epithelial tumors, which by the WHO are classified as non-malignant tumors. Despite radical tumor regression, almost 57% of patients develop a craniopharyngioma recurrence. The pathogenesis of epithelial cancers involves a process called epithelial-mesenchymal transition (EMT), which is involved in tumor progression and its invasion, and the loss of E-cadherin is crucial for this process. Undoubtedly, EMT also plays a role in the progression of ACP, but there are no studies that would examine its role in predicting postoperative tumor recurrence. Therefore, in our study, we aimed to compare the expression of EMT inducers and their markers, namely E-cadherin and vimentin, in material from two groups of pediatric patients, first with postoperative ACP relapse and second without relapse.
A total of 35 formalin-fixed, paraffin-embedded tissue blocks of pediatric patients (19 girls and 16 boys, from 2 to 17 years old) were included. The material was collected during craniopharyngioma resection in the years 2000-2019 and after then examined by the Department of Pathomorphology. Gene expression analysis was done using qRT-PCR.
In the studied group of 35 patients, high levels of E-cad and low levels of vimentin expression were found in patients who did not experience relapse (n = 25, p < 0.0001). The opposite was observed in patients who experienced a recurrence (n = 10, p < 0.0001). In contrast, analysis of the recurrent tissue itself showed low levels of vimentin and re-expression of E-cadherin (n = 10, p < 0.0001). Furthermore, our study shows that Snail is a key inducer of EMT in ACP.
We believe that the evaluation of the EMT profile in ACP could be a prognostic marker for predicting tumor recurrence in children, which would certainly contribute to a better prognosis for these patients.
造釉细胞瘤型颅咽管瘤（ACP）是一种罕见的上皮性肿瘤，世界卫生组织将其归类为非恶性肿瘤。尽管肿瘤实现了根治性消退，但几乎57%的患者会出现颅咽管瘤复发。上皮癌的发病机制涉及一个称为上皮-间质转化（EMT）的过程，该过程与肿瘤进展及其侵袭有关，而E-钙黏蛋白的缺失对这一过程至关重要。毫无疑问，EMT在ACP的进展中也起作用，但尚无研究探讨其在预测术后肿瘤复发中的作用。因此，在我们的研究中，我们旨在比较两组儿科患者材料中EMT诱导剂及其标志物（即E-钙黏蛋白和波形蛋白）的表达，第一组为术后ACP复发患者，第二组为未复发患者。
共纳入35例儿科患者的福尔马林固定、石蜡包埋组织块（19例女孩和16例男孩，年龄2至17岁）。这些材料于2000年至2019年颅咽管瘤切除术中收集，随后由病理形态学部门进行检查。使用qRT-PCR进行基因表达分析。
在研究的35例患者组中，未复发患者（n = 25，p < 0.0001）中发现E-钙黏蛋白水平高而波形蛋白表达水平低。复发患者（n = 10，p < 0.0001）中观察到相反情况。相比之下，对复发组织本身的分析显示波形蛋白水平低且E-钙黏蛋白重新表达（n = 10，p < 0.0001）。此外，我们的研究表明，Snail是ACP中EMT的关键诱导剂。
我们认为，评估ACP中的EMT谱可能是预测儿童肿瘤复发的预后标志物，这肯定有助于改善这些患者的预后。
