Rickert C H, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W
Institute of Neuropathology, Westfälische Wilhelms-Universität Munster, Germany.
J Neuropathol Exp Neurol. 2000 Sep;59(9):815-21. doi: 10.1093/jnen/59.9.815.
Fifteen primary pineal germ cell tumors (8 germinomas, 4 mixed teratomas-germinomas, 2 immature teratomas, and 1 yolk sac tumor) and 2 recurrences of the yolk sac tumor were studied by comparative genomic hybridization (CGH). An average of 1.8 chromosomal changes per germinoma (0.5 gains vs 1.3 losses), 5.5 per mixed teratoma-germinoma (3.0 gains vs 2.5 losses), 3.5 per immature teratoma (2.0 gains vs 1.5 losses), and 2.0 in the yolk sac tumor (2 gains vs 0 losses) were found; the first recurrence showed 7 (4 gains vs 3 losses), the second 13 imbalances (8 gains vs 5 losses). The most frequent imbalances were gains on 12p (40%), 8q (27%), and 1q (20%) as well as losses on 13q (47%), 18q (33%), 9q and 11q (20% each). Among germinomas, the most common chromosomal changes were -13q and -18q (38% each), in mixed teratomas-germinomas +8q (100%), +12p (75%), -13q (75%) and -9q (50%). Seven high-level gains were identified: 5 in mixed teratomas-germinomas (+8q: 3 cases, + 12p: 2 cases), 1 each in a germinoma (+2p) and an immature teratoma (+12p). Minimal common regions of over- and underrepresentation were found on +8q11.22-21.1, +12p11.1-12.1, -9q32-qter, -11q23.2-qter, -13q32-qter and -18q22-qter. Our findings suggest, that imbalances in cerebral germ cell tumors affect the same chromosomes as among their extracerebral counterparts, albeit in a considerably lower frequency among cerebral germinomas where +12p does not seem to play a major role.
通过比较基因组杂交(CGH)研究了15例原发性松果体生殖细胞瘤(8例生殖细胞瘤、4例畸胎瘤-生殖细胞瘤混合型、2例未成熟畸胎瘤和1例卵黄囊瘤)以及2例复发的卵黄囊瘤。发现生殖细胞瘤平均每个有1.8个染色体改变(0.5个增加对1.3个丢失),畸胎瘤-生殖细胞瘤混合型平均每个有5.5个(3.0个增加对2.5个丢失),未成熟畸胎瘤平均每个有3.5个(2.0个增加对1.5个丢失),卵黄囊瘤有2.0个(2个增加对0个丢失);第一次复发显示有7个(4个增加对3个丢失),第二次复发有13个失衡(8个增加对5个丢失)。最常见的失衡是12p增加(40%)、8q增加(27%)和1q增加(20%)以及13q丢失(47%)、18q丢失(33%)、9q和11q丢失(各20%)。在生殖细胞瘤中,最常见的染色体改变是-13q和-18q(各38%),在畸胎瘤-生殖细胞瘤混合型中是+8q(100%)、+12p(75%)、-13q(75%)和-9q(50%)。确定了7个高水平增加:畸胎瘤-生殖细胞瘤混合型中有5个(+8q:3例,+12p:2例),生殖细胞瘤中有1个(+2p),未成熟畸胎瘤中有1个(+12p)。在+8q11.22 - 21.1、+12p11.1 - 12.1、-9q32 - qter、-11q23.2 - qter、-13q32 - qter和-18q22 - qter发现了增减最少的共同区域。我们的研究结果表明,脑生殖细胞瘤中的失衡影响的染色体与其脑外对应物相同,尽管在脑生殖细胞瘤中频率要低得多,其中+12p似乎不发挥主要作用。