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斜坡脊索瘤三种变异型的细胞遗传学分析

Cytogenetic analysis of three variants of clival chordoma.

作者信息

Gil Ziv, Fliss Dan M, Voskoboinik Nadia, Leider-Trejo Leonor, Spektor Sergey, Yaron Yuval, Orr-Urtreger Avi

机构信息

Skull Base Surgery Unit, Department of Otolaryngology-Head and Neck Surgery, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel.

出版信息

Cancer Genet Cytogenet. 2004 Oct 15;154(2):124-30. doi: 10.1016/j.cancergencyto.2004.01.031.

DOI:10.1016/j.cancergencyto.2004.01.031
PMID:15474147
Abstract

Chordoma is an uncommon malignant neoplasm derived from remnants of the embryonal notochord. The tumor arises in the sacrococcygeal region in most cases. Cytogenetic information on clival chordomas is scarce due to the low incidence of these tumors. In this study, we applied the G-banding and spectral karyotyping techniques to compare the karyotypes of three variants of clival chordoma: conventional, chondroid, and dedifferentiated. We describe a normal karyotype of a chondroid chordoma and a complex karyotype of a conventional chordoma involving chromosomes 1, 2, 3, 5, 8, 9, 11, 15, 19, 20, and X. The cytogenetic analysis of the dedifferentiated chordoma showed a polyploid complex karyotype of 71-123 chromosomes with double minutes that originated from chromosome 17.

摘要

脊索瘤是一种罕见的恶性肿瘤,起源于胚胎脊索的残余部分。大多数情况下,肿瘤发生在骶尾区域。由于这些肿瘤的发病率较低,关于斜坡脊索瘤的细胞遗传学信息很少。在本研究中,我们应用G显带和光谱核型分析技术比较了斜坡脊索瘤三种变体(传统型、软骨样型和去分化型)的核型。我们描述了软骨样脊索瘤的正常核型以及涉及1号、2号、3号、5号、8号、9号、11号、15号、19号、20号和X染色体的传统脊索瘤的复杂核型。去分化脊索瘤的细胞遗传学分析显示,其具有71 - 123条染色体的多倍体复杂核型,伴有起源于17号染色体的双微体。

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1
Cytogenetic analysis of three variants of clival chordoma.斜坡脊索瘤三种变异型的细胞遗传学分析
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Chromosome 7 abnormalities are common in chordomas.7号染色体异常在脊索瘤中很常见。
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引用本文的文献

1
Immunophenotypic features of dedifferentiated skull base chordoma: An insight into the intratumoural heterogeneity.去分化颅底脊索瘤的免疫表型特征:对肿瘤内异质性的深入了解
Contemp Oncol (Pozn). 2017;21(4):267-273. doi: 10.5114/wo.2017.72385. Epub 2017 Dec 30.
2
High-resolution whole-genome analysis of skull base chordomas implicates FHIT loss in chordoma pathogenesis.颅底脊索瘤的高分辨率全基因组分析提示 FHIT 缺失在脊索瘤发病机制中的作用。
Neoplasia. 2012 Sep;14(9):788-98. doi: 10.1593/neo.12526.
3
Update on the cytogenetics and molecular genetics of chordoma.
脊索瘤的细胞遗传学和分子遗传学最新进展
Hered Cancer Clin Pract. 2005 Feb 15;3(1):29-41. doi: 10.1186/1897-4287-3-1-29.
4
Double minutes, cytogenetic equivalents of gene amplification, in human neoplasia - a review.人类肿瘤中双微体(基因扩增的细胞遗传学等价物)——综述
Clin Transl Oncol. 2005 Dec;7(11):477-85. doi: 10.1007/BF02717000.