摘要目的 探讨室管膜瘤基因组DNA失衡与其组织学类型、分级和部位及患者性别和年龄的关系.方法 用比较基因组杂交检测了16例室管膜瘤的染色体基因组DNA获得和丢失.结果 16例室管膜瘤的基因组DNA获得和丢失检出率分别为15/16和13/16,共发现24个有DNA获得和19个有DNA丢失的染色体区带.黏液乳头状型(WHO Ⅰ级)的获得和丢失区带数均最多,而富于细胞型(WHOⅡ级)和伸长细胞型(WHOⅡ级)的这些异常均多于间变性室管膜瘤(WHOⅢ级).部分获得和丢失区带仅见于黏液乳头状型、富于细胞型、伸长细胞型和间变性中的一种类型,使这些室管膜瘤亚型呈现特征性基因组DNA失衡谱.黏液乳头状型、富于细胞型和伸长细胞型均常出现+7;前两者均有+5,后两者均有-22q;间变性组中+1q 最常见,但无其他亚型常见的+5、+7、-4q、-19q和-22q.任何获得和丢失区带的检出率均无性别差异(P>0.05);≤30岁组和颅内组均以+1q和+7p最常见,>30岁组和脊髓组均以+7最常见,≤30岁组与>30岁组及颅内组与脊髓组比较,三者的检出率差异均有统计学意义(P<0.05).结论 室管膜瘤的基因组DNA失衡频率随其级别升高而相应减少,以上各亚型的特征性基因组DNA失衡谱是决定它们组织学表型和级别的分子遗传学基础,+1q、+5、+7p、+7、-4q、-19q和-22q是评价其生物学行为和患者预后的重要分子遗传学标志.

abstractsObjective To investigate genomic DNA imbalances in epondymomas (EDMs) and their correlations with the tumor histological types, grades, locations, patients' gender and age. Methods Chromosomal gains and losses in 16 cases of EDM were analyzed using comparative genomic hybridization.Results Chromosomal regional gain and loss were found in 15 and 13 of 16 EDM cases respectively including totally 24 regional gains and 19 regional losses in all the tumots studied. Both regional gains and losses were mostly seen in myxopapillary EDMs (MPE, WHO grade I), more commonly seen in cellular EDMs (CE, WHO grade Ⅱ) and tanycytie EDMs (TE, WHO grade Ⅱ) than in anaplnstic EDMs (AE,WHO grade Ⅲ). Some of the regional gains and losses appeared only in one subtype of MPE, CE, TE and AE cases resulting in development of specific imbalance profiles of certain subtype in these eases. MPE, CE and TE often had +7. Chromosomal +5 occurred only in MPE and CE, and -22q was only seen in CE and TE. AE frequently had +1q, but none had +5, +7, -4q, -19q and -22q. The frequencies of any regional gain or loss were not affected by patients' genders (P > 0.05). Chromosomal +1q and +7p happened predominantly in intracranial EDMs with an averagely onset age of ≤30 years, and +7 was only detected in spinal EDMs of patients over 30 years old, the differences were statistically significant (P<0.05). Conclusions The frequencies of chromosomal imbalances in EDMs decrease as the tumor grade increases. Characteristic chromosomal imbalances in each subtype may play an important role in determination of histological phenotypes and tumor grades. Chromosomal +1q, +5, +7p, +7, -4q,-19q and -22q are alterations which may dictate the biological behaviors of these tumors and the patients'prognosis.