Vornetti Gianfranco, Marucci Gianluca, Zenesini Corrado, de Biase Dario, Michelucci Roberto, Tinuper Paolo, Tallini Giovanni, Giulioni Marco
IRCCS Institute of Neurological Sciences of Bologna, Division of Neurosurgery, Bellaria Hospital, Bologna, Italy.
Department of Neuropathology, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
J Clin Neurosci. 2017 Oct;44:158-163. doi: 10.1016/j.jocn.2017.06.022. Epub 2017 Jun 30.
The aim of this study was to evaluate the relationship between molecular markers and clinicopathological features in patients operated on for low-grade epilepsy-associated neuroepithelial tumors. Molecular-genetic signatures are becoming increasingly important in characterizing these lesions, which represent the second most common cause of focal epilepsy in patients undergoing epilepsy surgery. Data from 22 patients operated on for histopathologically confirmed low-grade epilepsy-associated neuroepithelial tumors were retrospectively collected. All specimens were examined for BRAF and IDH mutational status, 1p/19q codeletion and CD34 expression. The relationship between bio-molecular markers and several demographic, clinical and pathological features were analyzed. BRAF mutation was found in 11 (50.0%) patients and CD34 expression in 13 (59.1%). No patients presented IDH mutation or 1p/19q codeletion. Multiple seizure types were present in 5 (45.5%) patients with BRAF mutation and in none of those with BRAF wild type (p=0.035). Moreover, BRAF mutation was predominant in right-sided lesions (p=0.004) and CD34 expression was significantly associated with a longer duration of epilepsy (p=0.027). Several other clinicopathological features, such as association with focal cortical dysplasia and postoperative seizure outcome, showed no significant correlation with molecular markers. Further studies are necessary both to confirm these data in larger cohort of patients and to investigate possible relationships between molecular markers and other clinicopathological features.
本研究的目的是评估接受低级别癫痫相关神经上皮肿瘤手术的患者分子标志物与临床病理特征之间的关系。分子遗传学特征在这些病变的特征描述中变得越来越重要,这些病变是癫痫手术患者局灶性癫痫的第二大常见病因。回顾性收集了22例经组织病理学确诊为低级别癫痫相关神经上皮肿瘤患者的手术数据。所有标本均检测了BRAF和IDH突变状态、1p/19q共缺失及CD34表达情况。分析了生物分子标志物与多种人口统计学、临床和病理特征之间的关系。11例(50.0%)患者检测到BRAF突变,13例(59.1%)检测到CD34表达。无患者出现IDH突变或1p/19q共缺失。BRAF突变的5例(45.5%)患者存在多种发作类型,BRAF野生型患者均无多种发作类型(p=0.035)。此外,BRAF突变在右侧病变中占主导(p=0.004),CD34表达与癫痫持续时间较长显著相关(p=0.027)。其他一些临床病理特征,如与局灶性皮质发育异常的关联及术后癫痫发作结局,与分子标志物无显著相关性。需要进一步研究以在更大患者队列中证实这些数据,并探究分子标志物与其他临床病理特征之间可能的关系。