【摘要】 目的通过对毛细胞黏液型星形细胞瘤(PMA)的肿瘤分子病理学检测,对PMA分子病理进行初步研究探讨。方法纳入从2007年1月至2010年12月在复旦大学附属华山医院神经外科12例接受手术治疗术后病理诊断为PMA患者。对肿瘤组织样品进行PCR扩增和测序以及FISH检测。结果 12例患者中4例男性、8例女性;年龄3～47岁,中位年龄12. 5岁。PMA位于三脑室6例、鞍区5例、基底节1例。穿刺活检2例、全切除5例、部分切除5例。2例术后放疗联合化疗、7例术后放疗未化疗、3例术后未行放疗和化疗。术后随访患者头痛、头晕均改善,视力有所好转1例,余病例视力均无改善。手术后中位无进展生存期为27个月,中位随访时间35. 8个月,根据RANO标准对患者病灶进行疗效评估,其中进展3例,平均进展时间为12. 3个月;死亡3例,平均生存期16. 3个月。分析IDH1、MGMT、BRAF、1p19q检测结果,IDH1均为野生型12例; MGMT甲基化3例,非甲基化9例; BRAF V600E突变1例,无突变11例。结论 PMA发病率低,预后不良,手术切除是主要治疗手段,分子病理检测可指导PMA的综合治疗,放疗、化疗的临床价值有待进一步研究。更多还原

【Abstract】 Aim To preliminarily investigate the clinicopathological features of pilomyxoid astrocytoma( PMA) which is a subtype of pilocytic astrocytoma( PA) by means of molecular pathological testing,statistical analysis and follow-up records. Methods From January 2007 to December 2010,twelve PMA patients were enrolled in this study. Polymerase Chain Reaction( PCR) was used to amplify and sequence the samples of PMA patients’ tumor tissue for detecting IDH status,MGMT,BRAF and FISH 1 p19 q.Results The age at diagnosis of PMA patients ranged from 3 to 47 years old with a median age of 12. 5 years. Four cases( 33,33%) were males,eight cases( 66. 67%) were females. Six cases( 50. 00%)were located in the third ventricle,five cases( 41. 67%) in the sellar region( optic chiasma and thalamus),and one case( 8. 33%) in the basal ganglia. The clinical manifestations were headache,dizziness,nausea and vomiting,vision loss,blurred vision,walking instability,and trauma 2 weeks later.Among them, two cases( 16. 67%) had biopsy, gross total resection was performed in five cases( 41. 67%) and partial resection in five cases( 41. 67%). Two cases( 16. 67%) had postoperative radiotherapy combined with chemotherapy,seven cases( 58. 33%) had postoperative radiotherapy without chemotherapy,and three cases( 25%) had postoperative radiotherapy and chemotherapy. During postoperative follow-up,the symptom of headache and dizziness improved but only one patient’s visual acuity improved,while the rest of the patients’ visual acuity has not improved. There were no other special symptoms before surgery. Median progression-free survival( PFS) was 27 months with a median follow-up of 35. 8 months. The treatment response was evaluated according to the RANO criteria in 2007,three patients( 25%) had progression disease with an average progression time of 12. 3 months,and three patients( 25%) died with an average survival time of 16. 3 months. The results of IDH status,MGMT methylation,BRAF were analyzed and 1 p19 q analysis( including incidence,prognosis,relationship with each other,and relationship with surgery and chemotherapy) was made,which showed that IDH 1/2 wild type was found in twelve patients( 100%),MGMT methylation was found in three cases( 25%),unmethylation in nine cases( 75%),BRAF V600 E mutation in one( 8. 33%) case and no mutation in eleven cases( 91. 67%). Conclusion The incidence of PMAs is low as well as the age of onset,and the prognosis is poor. Surgical resection is a main treatment,molecular pathological test could guide the comprehensive treatment for PMAs. The value of radiotherapy and chemotherapy needs to be explore further.更多还原