摘要目的 探讨髓母细胞瘤染色体基因组DNA失衡及其与患者年龄、性别之间的关系.方法 用比较基因组杂交方法对16例髓母细胞瘤的染色体基因组DNA获得和丢失进行检测.结果 16例髓母细胞瘤中,共有15例(15/16)检测到获得和(或)丢失.有获得者10例(10/16),有丢失者11例(11/16),二者的差异无统计学意义(P＞0.05);获得和丢失例数的性别及年龄差异也无统计学意义(P＞0.05).出现单染色体、双染色体、三染色体及多染色体获得和(或)丢失者分别为3例(3/15),4例(4/15),1例(1/15)和7例(7/15).该组病例共检测到11个有DNA获得(+5q、+6q、+7q、+1lq、+15q、+17p、+17q、+19q、+20q、+2lq、+Xp)和25个有DNA丢失(-1p、-1q、-2p、-2q、-3q、-4p、-6p、-6q、-8p、-8q、-10p、-10q、-11p、-14q、-16p、-16q、-17p、-18p、-18q、-19p、-19q、-20p、-20q、-Xp、-Xq)的染色体区带;以+7q(6/16)、+17q(6/16)、-14q(5/16)和-10q(3/16)最常见;且-14q均发生在＞10岁组.结论 大多数髓母细胞瘤有不同程度的染色体基因组DNA失衡,常见失衡区带主要位于染色体长臂,+7q、+17q、-14q和-10q与该肿瘤的发生密切相关,-14q是导致＞10岁组髓母细胞瘤发生的重要因素,髓母细胞瘤可能存在不同的分子遗传学亚型.

abstractsObjective To investigate the relationship between chromosomal genomic DNA imbalance in medulloblastoma (MB), and the age and gender. Methods The gains and losses of chromosomal genomic DNA in 16 MBs were analyzed using comparative genomic hybridization. Results The gains and (or) losses were found in 15 of the 16 cases. There was not significant difference (P＞0.05)between the total gains (10/16) and losses (11/16). Both of their differences had also no significance between different age and gender groups(P＞0.05). In 15 cases with gains and (or) losses, single-, two-,three-and multi-chromosome genomic DNA imbalances were 3/15, 4/15, 1/15 and 7/15 respectively.Eleven gain zones (+5q, +6q, +7q, +11q, +1Sq, +17p, +17q, +19q, +20q, +21q, +Xp)and twenty-five loss zones(-1p,-1q, -2p, -2q, -3q, -4p, -6p, -6q, -8p, -8q, -10p,-10q, -11p, -14q, -16p, -16q, -17p, -18p, -18q,-19p, -19q, -20p, -20q,-Xp,-Xq) were detected in those tumors. +7q (6/16), + 17q (6/16), - 14q (5/16) and - 10q (3/16)were the most frequent, but - 14q only occurred in the cases of ＞ 10-year-old. Conclusions Most MBs have chromosomal genomic DNA imbalances. The frequent imbalance zones are mainly at the long arms of some chromosomes. +7q, + 17q, -14q and -10q correlate closely to development of the tumors. -14qis important factor to result in MBs of ＞ 10-year-old group. MB has possibly different molecular genetics subtype.