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儿童脑肿瘤中的染色体异常

Chromosome abnormalities in pediatric brain tumors.

作者信息

Griffin C A, Hawkins A L, Packer R J, Rorke L B, Emanuel B S

机构信息

Department of Pediatrics, University of Pennsylvania School of Medicine.

出版信息

Cancer Res. 1988 Jan 1;48(1):175-80.

PMID:3334992
Abstract

Recurrent, site-specific chromosome translocations and other cytogenetic abnormalities are being described in ever-increasing numbers and types of human tumors. Primary brain tumors are the most common pediatric solid tumor and differ from those of adults in both histology and clinical behavior. We examined chromosomes from 21 primary pediatric brain neoplasms grown in short-term tissue culture, including 6 astrocytomas, 10 primitive neuroectodermal tumors, and 5 other tumors. Karyotypes from 3 of 5 astrocytomas were abnormal, as were those of 9 of 10 primitive neuroectodermal tumors. Numerical abnormalities were found in 6 tumors and structural aberrations in 12 tumors. Deletions, additions, and translocations involving the short arm of chromosome 1 were observed in 5 tumors, with chromosome breakpoints ranging from 1p1 to 1p3. An isochromosome of the long arm of 17, i(17q) was the most frequent site-specific structural abnormality, found in 1 anaplastic astrocytoma and 2 recurrent cerebellar primitive neuroectodermal tumors, one with islands of anaplastic astrocytoma. These results differ from reported chromosome studies of adult brain tumors, suggesting that pediatric brain tumors may differ from those of adults when examined at the genetic level. Additional chromosomal and molecular studies of brain tumors from children are warranted to define these differences.

摘要

越来越多类型的人类肿瘤中出现了复发性、位点特异性染色体易位和其他细胞遗传学异常。原发性脑肿瘤是儿童最常见的实体瘤,在组织学和临床行为上均与成人脑肿瘤不同。我们检测了21例在短期组织培养中生长的原发性儿童脑肿瘤的染色体,其中包括6例星形细胞瘤、10例原始神经外胚层肿瘤和5例其他肿瘤。5例星形细胞瘤中有3例的核型异常,10例原始神经外胚层肿瘤中有9例的核型异常。6例肿瘤中发现了数目异常,12例肿瘤中发现了结构畸变。5例肿瘤中观察到涉及1号染色体短臂的缺失、增加和易位,染色体断点范围从1p1到1p3。17号染色体长臂的等臂染色体i(17q)是最常见的位点特异性结构异常,在1例间变性星形细胞瘤和2例复发性小脑原始神经外胚层肿瘤中发现,其中1例伴有间变性星形细胞瘤岛。这些结果与已报道的成人脑肿瘤染色体研究不同,表明在基因水平检测时,儿童脑肿瘤可能与成人脑肿瘤不同。有必要对儿童脑肿瘤进行更多的染色体和分子研究以明确这些差异。

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