Department of Neurosurgery, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092, China.
Department of Radiology, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092, China.
Clin Neurol Neurosurg. 2021 Jan;200:106347. doi: 10.1016/j.clineuro.2020.106347. Epub 2020 Nov 2.
CTNNB1-targeted inhibitor is demonstrated to be an effective neoadjuvant therapy in adamantinomatous craniopharyngioma (ACP) patients and cystic degeneration is a canonical sign of pediatric ACP. This study aimed to investigate the relationship between the cystic performances and CTNNB1 mutation (CTNNB1 MUT) status so as to analyze the possible diagnostic criteria of CTNNB1 MUT in pediatric cystic ACP (PCACP).
Patient's population, clinical characteristics, tissue samples and MRI data were collected and summarized in PCACP patients. The results were compared between CTNNB1 MUT and CTNNB1 wild-type (WT) groups according to the Sanger sequencing. MRI features of the cyst were also recorded. The receiving operating characteristic (ROC) curve analysis was applied to evaluate the differential diagnostic value.
19 of the 61 patients manifested CTNNB1 MUT PCACP and 42 patients were CTNNB1 WT PCACP. Multiple cysts, irregular shape of cyst, hypo-intense interior signal of cyst on non-contrast T1W1, compression with optic chiasm and pituitary stalk and enhancement signal of cystic wall have been demonstrated in CTNNB1 MUT PCACP patients on MRI. Only the Area under the curve (AUC) values of quantity of cyst, shape of cyst and interior signal of cyst on non-contrast T1W1 were over 0.7. For criteria based on the combination of the 6 characteristic features, the AUC value was 0.928.
Preoperative MRI may provide an effective value in predicting PCACP patients with CTNNB1 MUT and offer potential evidence for preoperative management with molecular targeted agents.
CTNNB1 靶向抑制剂已被证明在造釉细胞瘤型颅咽管瘤（ACP）患者的新辅助治疗中有效，囊性变是儿童 ACP 的典型表现。本研究旨在探讨囊性表现与 CTNNB1 突变（CTNNB1 MUT）状态的关系，以期分析儿童囊性 ACP（PCACP）中 CTNNB1 MUT 的可能诊断标准。
收集并总结了 PCACP 患者的患者人群、临床特征、组织样本和 MRI 数据。根据 Sanger 测序，将结果与 CTNNB1 MUT 和 CTNNB1 野生型（WT）组进行比较。还记录了囊肿的 MRI 特征。应用受试者工作特征（ROC）曲线分析评估鉴别诊断价值。
在 61 例患者中，19 例表现为 CTNNB1 MUT PCACP，42 例为 CTNNB1 WT PCACP。MRI 显示 CTNNB1 MUT PCACP 患者的囊肿表现为多发囊肿、囊肿形态不规则、非增强 T1W1 序列上囊内信号低、压迫视交叉和垂体柄以及囊肿壁强化信号。仅囊肿数量、囊肿形态和非增强 T1W1 序列上囊内信号的曲线下面积（AUC）值大于 0.7。对于基于 6 个特征组合的标准，AUC 值为 0.928。
术前 MRI 可能为预测具有 CTNNB1 MUT 的 PCACP 患者提供有效的价值，并为分子靶向药物的术前管理提供潜在的证据。
