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家族性脊索瘤。两例报告。

Familial chordoma. A report of two cases.

作者信息

Bhadra A K, Casey A T H

机构信息

National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

出版信息

J Bone Joint Surg Br. 2006 May;88(5):634-6. doi: 10.1302/0301-620X.88B5.17299.

DOI:10.1302/0301-620X.88B5.17299
PMID:16645110
Abstract

We have treated 175 patients with a chordoma over a ten-year period. Only two had a family history of the condition and we describe these in this paper. In one patient the tumour was at the craniocervical junction and in the other the lesion affected the sacrum. We have undertaken a literature review of familial chordoma and have identified chromosomal abnormalities associated with the condition.

摘要

在十年间,我们共治疗了175例脊索瘤患者。其中仅有两例有该病的家族病史,本文将对这两例进行描述。一例患者的肿瘤位于颅颈交界处,另一例患者的病变累及骶骨。我们对家族性脊索瘤进行了文献综述,并确定了与该病相关的染色体异常。

相似文献

1
Familial chordoma. A report of two cases.家族性脊索瘤。两例报告。
J Bone Joint Surg Br. 2006 May;88(5):634-6. doi: 10.1302/0301-620X.88B5.17299.
2
MRI features of sacrococcygeal chordoma.骶尾部脊索瘤的磁共振成像特征
JBR-BTR. 2009 Sep-Oct;92(5):262.
3
Dedifferentiated chordoma with rhabdomyoblastic differentiation.具有横纹肌母细胞分化的去分化脊索瘤。
Pathology. 2007 Apr;39(2):277-80. doi: 10.1080/00313020701230716.
4
[Sacral chordoma: a rare tumor of the buttocks].
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5
Outcome of 132 operations in 97 patients with chordomas of the craniocervical junction and upper cervical spine.97 例颅颈交界区和上颈椎脊索瘤患者 132 次手术的结果。
Neurosurgery. 2010 Jan;66(1):59-65; discussion 65. doi: 10.1227/01.NEU.0000362000.35742.3D.
6
Chordoma: long-term evaluation of 15 cases treated surgically.
Chir Organi Mov. 1998 Jan-Jun;83(1-2):87-103.
7
De novo dedifferentiated chordoma of the sacrum: a case report and review of the literature.骶骨原发性去分化脊索瘤:一例报告并文献复习
Chang Gung Med J. 2009 May-Jun;32(3):330-5.
8
[Chordoma of the sacrum. Case report].[骶骨脊索瘤。病例报告]
Helv Chir Acta. 1984 Nov;51(5):581-8.
9
Decision making in primary sacral tumors.原发性骶骨肿瘤的决策制定
Spine J. 2009 May;9(5):396-403. doi: 10.1016/j.spinee.2008.10.001. Epub 2008 Dec 6.
10
Chordoma of the mobile spine and sacrum: a retrospective analysis of a series of patients surgically treated at two referral centers.脊柱和骶骨的脊索瘤:对在两个转诊中心接受手术治疗的一系列患者的回顾性分析。
Ann Surg Oncol. 2010 Jan;17(1):211-9. doi: 10.1245/s10434-009-0740-x. Epub 2009 Oct 22.

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Germline findings in cancer predisposing genes from a small cohort of chordoma patients.一小群脊索瘤患者癌症易感基因的种系研究结果。
J Cancer Res Clin Oncol. 2024 May 3;150(5):227. doi: 10.1007/s00432-024-05706-5.
2
Conserved enhancers control notochord expression of vertebrate Brachyury.保守增强子控制脊椎动物 Brachyury 的脊索表达。
Nat Commun. 2023 Oct 18;14(1):6594. doi: 10.1038/s41467-023-42151-3.
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The NIH pediatric/young adult chordoma clinic and natural history study: Making advances in a very rare tumor.美国国立卫生研究院儿童/青年成人脊索瘤诊所及自然史研究:在一种极为罕见的肿瘤研究方面取得进展。
Pediatr Blood Cancer. 2023 Jun 22:e30358. doi: 10.1002/pbc.30358.
4
Clinical findings in families with chordoma with and without T gene duplications and in patients with sporadic chordoma reported to the Surveillance, Epidemiology, and End Results program.临床发现具有 T 基因重复和不具有 T 基因重复的家族性软骨肉瘤患者,以及向监测、流行病学和最终结果计划报告的散发性软骨肉瘤患者。
J Neurosurg. 2020 Jun 19;134(5):1399-1408. doi: 10.3171/2020.4.JNS193505. Print 2021 May 1.
5
Familial chordoma: A case report and review of the literature.家族性脊索瘤:一例病例报告及文献复习
Oncol Lett. 2015 Nov;10(5):2937-2940. doi: 10.3892/ol.2015.3687. Epub 2015 Sep 9.
6
Paediatric Chordomas.小儿脊索瘤
Orphanet J Rare Dis. 2015 Sep 22;10:116. doi: 10.1186/s13023-015-0340-8.
7
The molecular aspects of chordoma.脊索瘤的分子学研究
Neurosurg Rev. 2016 Apr;39(2):185-96; discussion 196. doi: 10.1007/s10143-015-0663-x. Epub 2015 Sep 12.
8
Aberrant hyperactivation of akt and Mammalian target of rapamycin complex 1 signaling in sporadic chordomas.散发性脊索瘤中Akt和哺乳动物雷帕霉素靶蛋白复合物1信号的异常过度激活。
Clin Cancer Res. 2009 Mar 15;15(6):1940-6. doi: 10.1158/1078-0432.CCR-08-2364. Epub 2009 Mar 10.