青少年多形性低级别神经上皮肿瘤的临床病理及分子特征研究(附10例临床病例报告)

The Clinic-pathological Characteristics and Molecular Features of Polymorphous Low-grade Neuroepithelial Tumor of the Young in 10 patients

目的分析青少年多形性低级别神经上皮肿瘤(PLNTY)的临床病理特征和分子改变,为临床诊断及治疗提供理论基础和科学依据。方法收集2015至2020年于复旦大学附属华山医院病理科诊断的组织学无法进一步归类的低级别神经上皮肿瘤病例,收集临床病史、影像学和组织病理学资料,筛选符合PLNTY特征的儿童及青少年患者,进一步分析其临床病理特征、分子遗传学改变、治疗和预后等情况。结果共纳入10例具有典型PLNTY组织学特征的病例,其中8例患者有癫癎发作病史(80%)。苏木精-伊红染色结果均显示肿瘤位于大脑皮质表面并呈浸润性生长,肿瘤细胞具有少突细胞样特征和明显的钙化;白细胞分化抗原34(CD34)免疫组化染色显示肿瘤细胞呈斑片状或者弥漫阳性。荧光原位杂交技术检测证实10例患者均无1p/19q共缺失;Sanger测序结果显示6例患者存在BRAFV600E基因突变(60%)。对9例PLNTY患者进行术后密切随访发现:患者癫癎等症状均明显缓解,MRI检查均未见肿瘤复发。结论PLNTY是一类具有独特组织学特征和分子遗传学改变的神经上皮肿瘤,虽具有浸润性生长的生物学行为,但是手术切除治疗预后较好,无需后续辅助放疗和化疗,属WHOⅠ级;明确PLNTY病理诊断对于控制儿童和青少年患者癫癎发作和避免过度治疗意义重大。

Aim To retrospectively analyze the clinic-pathological characteristics and genetic abnormalities of polymorphous low-grade neuroepithelial tumor of the young(PLNTY).Methods The cases of unclassified low-grade neuroepithelial tumor which diagnosed from 2015 to 2020 were collected.Then the young patients who are qualified the inclusion criteria according to the clinical history and MRI manifestation was screened.Furthermore,the phenotype and genotype of PLNTY based on the histology and gene test were investigated separately.Finally,the biological behavior and outcome of patients were evaluated in line with the follow-up data.Results Ten cases were included in our research eventually,in which 8 of them had history of seizures(80%).The HE stain showed the tumor mainly started with the surface of cerebral cortex and grew infiltratively.It was easily to observe the oligodendroglioma-like cells and calcification under the microscope.Moreover,intense immunolabeling for cluster of differentiation 34(CD34)was noticed in all 10 cases,but none of them exist 1 p/19 q co-deletion.Also,BRAFV600 E mutation was detected in 6 cases(60%).Finally,the follow-up data indicated 9 of them had no relapse after surgery except for one case lost to follow-up.Conclusion PLNTY has unique histological features and genetic alterations.It is significant for young patients’treatment and prognosis to precisely diagnosed of PLNTY,given that the tumor has benign behavior and favorable outcome.