Karnes P S, Tran T N, Cui M Y, Raffel C, Gilles F H, Barranger J A, Ying K L
Division of Medical Genetics, Childrens Hospital Los Angeles, California 90027.
Cancer Genet Cytogenet. 1992 Mar;59(1):12-9. doi: 10.1016/0165-4608(92)90150-7.
Consistent cytogenetic abnormalities have been described in many pediatric solid tumors, including Ewing's sarcoma, Wilms' tumor, and neuroblastoma. Similar analysis of pediatric central nervous system (CNS) tumors has been hampered by technical problems. We report chromosome results from 39 pediatric CNS tumors. Abnormalities of chromosome 17 were noted in 3 of 11 primitive neuroectodermal tumors (including i(17q) in 2 tumors), confirming data observed by other investigators. Cells from 2 of 11 primitive neuroectodermal tumors (PNET) exhibited loss or structural abnormalities involving chromosome 11. Loss or distal deletion of chromosome 7q was noted in cells from two PNETs. Because other investigators have shown loss of heterozygosity on 17p in about one-third of PNET, we propose that chromosome regions 7q and 11 are areas worthy of further study in pediatric PNET. Numerical abnormalities were noted in 6 of 21 astrocytomas. Hyperdiploidy was demonstrated in 1 of 4 pilocytic astrocytomas and pseudopolyploidy was demonstrated in 4 of 13 anaplastic astrocytomas. Structural chromosome abnormalities (translocations, deletions) were noted in 4 of 13 anaplastic astrocytomas. Complex structural anomalies were observed in one craniopharyngioma. A rhabdoid tumor of the brain exhibited multiple complex structural rearrangements but did not exhibit the monosomy 22 observed in some rhabdoid tumors. Hypodiploidy and loss of chromosome 22 were noted in a clinically aggressive meningioma, corroborating observations by other investigators.
许多小儿实体瘤中都有一致的细胞遗传学异常报道,包括尤因肉瘤、肾母细胞瘤和神经母细胞瘤。小儿中枢神经系统(CNS)肿瘤的类似分析因技术问题而受阻。我们报告了39例小儿CNS肿瘤的染色体结果。在11例原始神经外胚层肿瘤中有3例发现17号染色体异常(其中2例肿瘤为i(17q)),证实了其他研究者观察到的数据。11例原始神经外胚层肿瘤(PNET)中有2例的细胞表现出涉及11号染色体的缺失或结构异常。在2例PNET的细胞中发现了7号染色体长臂缺失或末端缺失。因为其他研究者已表明约三分之一的PNET存在17号染色体短臂杂合性缺失,我们提出7号染色体区域和11号染色体区域是小儿PNET中值得进一步研究的区域。21例星形细胞瘤中有6例发现了数目异常。4例毛细胞型星形细胞瘤中有1例表现为超二倍体,13例间变性星形细胞瘤中有4例表现为假多倍体。13例间变性星形细胞瘤中有4例发现了染色体结构异常(易位、缺失)。在1例颅咽管瘤中观察到复杂的结构异常。1例脑横纹肌样瘤表现出多个复杂的结构重排,但未表现出一些横纹肌样瘤中观察到的22号染色体单体。在1例临床侵袭性脑膜瘤中发现了亚二倍体和22号染色体缺失,证实了其他研究者的观察结果。