染色体1p、19q缺失检测在胶质瘤病理诊断中的意义

Detection of Chromosome 1p and 19q Deletions in Pathological Diagnosis of Glioma Types

[目的]研究染色体1p和19q的缺失在不同病理类型胶质瘤中的分布差异,评价其在胶质瘤病理鉴别诊断中的价值。[方法]选取经术后病理确诊的Ⅱ~Ⅲ级胶质瘤患者共134例。采用特异性扩增片段分析法检测肿瘤组织染色体1p、19q缺失情况。[结果] 134例患者中,组织病理学认定为间变性少突胶质细胞瘤（anaplastic oligodendroglioma,AO,WHOⅢ级）9例（6.7%）,少突胶质细胞瘤（oligodendroglial tumor,OT,WHOⅡ级）15例（11.2%）,混合型胶质瘤（星形＋少突）32例（23.9%）,星型细胞瘤（astrocytoma,AA）78例（58.2%）。少突胶质细胞瘤、间变性少突胶质细胞瘤、混合型胶质瘤、星型细胞瘤的1p、19q缺失率为分别为73.3%（11/15）和66.7%（10/15）、 66.7%（6/9）和77.8%（7/9）、53.1%（17/32）和59.4%（19/32）、43.6%（34/78）和41.0%（32/78）。染色体1p和19q的缺失情况（包括完整,杂合性缺失,联合缺失）在少突胶质细胞瘤、混合型胶质瘤、星型细胞瘤的分布差异有统计学意义（P〈0.05）,但在不同级别少突胶质细胞瘤中,染色体缺失差异无统计学意义。[结论]染色体1p、19q的缺失与胶质瘤病理类型相关。单纯依靠组织病理学诊断难以准确判断胶质瘤类型,检测染色体1p、19q缺失情况可作为胶质瘤病理诊断的重要参考指标。

[Objective] To evaluate the chromosome 1 p and 19 q deletion in pathological diagnosis of glioma types. [Methods] One hundred and thirty four patients with pathologically confirmed grade Ⅱ~Ⅲ glioma were included in the study. The deletion of chromosome 1 p and 19 q in tumor tissues were detected by specific amplification fragment analysis. [Results] Histopathology demonstrated that of 134 patients,there were 9 cases（6.7%） of anaplastic oligodendroglioma（AO,WHO Ⅲ）,15 cases（11.2%） of oligodendroglioma（OT,WHO Ⅱ）,32 cases（23.9%） of mixed glioma（oligodendrocytes with astrocytic ingredients）,78 cases（58.2%） of astrocytoma（AA）. Heterozygous deletion rates of 1 p and 19 q in OT,AO,mixed glioma,AA were 73.3%（11/15） and 66.7%（10/15）,66.7%（6/9） and 77.8%（7/9）,53.1%（17/32） and 59.4%（19/32）,43.6%（34/78） and 41.0%（32/78）,respectively. There were significant differences in distribution of chromosome 1 P and 19 q status（intact,loss of heterozygosity,co-deletion） among OT ＋AO,mixed glioma and AA（P〈0.05）,while there was no significant difference between OT and AO. [Conclusion] The deletion of chromosome 1 p and 19 q is related to the pathological types of glioma,indicating that it might be of value for diagnosis of glioma types.