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伴有新型染色体易位(2;5)(q33;q13)的颞骨软骨母细胞瘤

Temporal Chondroblastoma with a Novel Chromosomal Translocation (2;5) (q33;q13).

作者信息

Carlson Andrew P, Yonas Howard, Olson Garth T, Reichard Kaaren K, Medina-Flores Rafael

机构信息

Department of Neurological Surgery, University of New Mexico, Albuquerque, New Mexico.

出版信息

Skull Base Rep. 2011 May;1(1):65-70. doi: 10.1055/s-0031-1275638. Epub 2011 Mar 25.

DOI:10.1055/s-0031-1275638
PMID:23984205
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3743586/
Abstract

The case of a 51-year-old man with a large temporal mass is presented. The mass eroded the floor of the middle fossa medially to the sphenoid sinus. A combined approach with neurosurgery and otolaryngology was performed to achieve maximal resection of the mass. Pathology was typical for chondroblastoma: a rare, benign but locally invasive chondroid tumor. Genetic testing revealed a translocation of (2;5) (q33;q13). This is a unique genetic mutation in all chondroid tumors to our knowledge. The diagnostic utility or role of this mutation in the pathobiology of this tumor remains to be determined.

摘要

本文介绍了一名51岁男性患有巨大颞部肿物的病例。该肿物向内侵蚀中颅窝底至蝶窦。采用神经外科和耳鼻喉科联合手术方法,以实现肿物的最大程度切除。病理检查结果为典型的软骨母细胞瘤:一种罕见的、良性但具有局部侵袭性的软骨样肿瘤。基因检测显示存在(2;5)(q33;q13)易位。据我们所知,这是所有软骨样肿瘤中一种独特的基因突变。这种突变在该肿瘤病理生物学中的诊断效用或作用仍有待确定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/c1b144827e54/sbsr01065-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/6b4dea9442e9/sbsr01065-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/0cb298dfd1b5/sbsr01065-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/9c8a22ee404c/sbsr01065-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/c1b144827e54/sbsr01065-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/6b4dea9442e9/sbsr01065-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/0cb298dfd1b5/sbsr01065-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/9c8a22ee404c/sbsr01065-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f836/3743586/c1b144827e54/sbsr01065-4.jpg

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本文引用的文献

1
A balanced t(5;17) (p15;q22-23) in chondroblastoma: frequency of the re-arrangement and analysis of the candidate genes.软骨母细胞瘤中平衡易位 t(5;17) (p15;q22-23):重排频率及候选基因分析。
BMC Cancer. 2009 Nov 10;9:393. doi: 10.1186/1471-2407-9-393.
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Genome profiling of chondrosarcoma using oligonucleotide array-based comparative genomic hybridization.利用基于寡核苷酸阵列的比较基因组杂交技术对软骨肉瘤进行基因组分析。
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Temporal bone chondroblastoma.
颞骨软骨母细胞瘤。
Otol Neurotol. 2009 Aug;30(5):688-9. doi: 10.1097/MAO.0b013e31819d337c.
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Spectrum of cytomorphological features, including literature review, of an extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q12) (TEC/EWS) results in one case.伴有t(9;22)(q22;q12)(TEC/EWS)的骨外黏液样软骨肉瘤1例的细胞形态学特征谱,包括文献综述
Diagn Cytopathol. 2008 Dec;36(12):868-75. doi: 10.1002/dc.20931.
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Fluorescence in situ hybridization is a useful ancillary diagnostic tool for extraskeletal myxoid chondrosarcoma.荧光原位杂交是骨外黏液样软骨肉瘤一种有用的辅助诊断工具。
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Surgical treatment and outcomes of temporal bone chondroblastoma.颞骨软骨母细胞瘤的外科治疗及结果
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A 27-year-old woman with cranial nerve dysfunction.一名患有颅神经功能障碍的27岁女性。
Brain Pathol. 2007 Jul;17(3):327-8. doi: 10.1111/j.1750-3639.2007.00076_1.x.
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Surgical management of skull base chondroblastoma.颅底软骨母细胞瘤的外科治疗
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Chondroblastoma of the temporal bone: consistent middle fossa involvement.颞骨软骨母细胞瘤:中颅窝受累常见
Skull Base Surg. 1999;9(4):301-5. doi: 10.1055/s-2008-1058141.
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Chondroblastoma of the apex portion of petrousal bone.岩尖部软骨母细胞瘤
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