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伴分子进展的颅外转移少突胶质细胞瘤病例报告。

Extracranial metastatic oligodendroglioma with molecular progression, case presentation.

机构信息

Department of Pathology, Faculty of Medicine, University of Debrecen, Nagyerdei krt 98, Debrecen, H-4032, Hungary.

Department of Oncology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

出版信息

Diagn Pathol. 2024 Jul 26;19(1):103. doi: 10.1186/s13000-024-01529-7.

DOI:10.1186/s13000-024-01529-7
PMID:39061087
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11282783/
Abstract

BACKGROUND

Extraneural metastasis of central nervous system tumors is generally rare and most often reported in glioblastomas and medulloblastomas, whereas oligodendrogliomas seem to have the lowest risk of extracranial metastasis. Given its infrequent occurrence, both the diagnosis and therapy of metastatic oligodendroglioma is often challenging.

CASE PRESENTATION

This case study presents an oligodendroglioma, the isocitrate dehydrogenase 1 (IDH1) mutant, 1p/19q-codeleted tumor with bone marrow metastasis. The significance of this case lies in the comprehensive molecular analysis conducted for both the primary tumor and the metastasis. Chromosome 7 trisomy and chromosome 10 monosomy (+ 7/-10) were detected in the metastasis indicating molecular progression, which, to the best of our knowledge, has not been previously documented in metastatic oligodendroglioma.

CONCLUSIONS

This case study serves additional information for better understanding of the metastatic capabilities of CNS tumors.

摘要

背景

中枢神经系统肿瘤的颅外转移较为罕见,最常发生于胶质母细胞瘤和髓母细胞瘤,而少突胶质细胞瘤的颅外转移风险似乎最低。由于其罕见的发生,转移性少突胶质细胞瘤的诊断和治疗常常具有挑战性。

病例介绍

本病例研究介绍了一例伴有骨髓转移的异柠檬酸脱氢酶 1(IDH1)突变、1p/19q 联合缺失的少突胶质细胞瘤。该病例的意义在于对原发肿瘤和转移灶进行了全面的分子分析。在转移灶中检测到染色体 7 三体和染色体 10 单体性(+7/-10),表明存在分子进展,据我们所知,这在转移性少突胶质细胞瘤中尚未有报道。

结论

本病例研究为更好地了解中枢神经系统肿瘤的转移能力提供了更多信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77c0/11282783/87fbfb97ec3f/13000_2024_1529_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77c0/11282783/5ba6dd0c1860/13000_2024_1529_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77c0/11282783/216be5c4ea7a/13000_2024_1529_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77c0/11282783/87fbfb97ec3f/13000_2024_1529_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77c0/11282783/5ba6dd0c1860/13000_2024_1529_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77c0/11282783/216be5c4ea7a/13000_2024_1529_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77c0/11282783/87fbfb97ec3f/13000_2024_1529_Fig3_HTML.jpg

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本文引用的文献

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Front Mol Neurosci. 2021 Oct 5;14:722396. doi: 10.3389/fnmol.2021.722396. eCollection 2021.
2
Multiple metastases to the bone and bone marrow from a 1p/19q-codeleted and -mutant anaplastic oligodendroglioma: a case report and literature review.1p/19q共缺失且发生突变的间变性少突胶质细胞瘤骨和骨髓多发转移:1例病例报告及文献复习
Neurooncol Adv. 2020 Aug 27;2(1):vdaa101. doi: 10.1093/noajnl/vdaa101. eCollection 2020 Jan-Dec.
3
Central nervous system high grade neuroepithelial tumor with BCOR immunopositivity: Is there a molecular heterogeneity?
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Brain Tumor Pathol. 2021 Jan;38(1):41-49. doi: 10.1007/s10014-020-00381-z. Epub 2020 Sep 27.
4
Fusions involving BCOR and CREBBP are rare events in infiltrating glioma.BCOR 和 CREBBP 融合在浸润性神经胶质瘤中是罕见事件。
Acta Neuropathol Commun. 2020 Jun 3;8(1):80. doi: 10.1186/s40478-020-00951-4.
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Total copy number variation, somatic mutation burden, and histologic grade correlate with clinical outcome in oligodendroglioma.在少突胶质细胞瘤中,总拷贝数变异、体细胞突变负担和组织学分级与临床结果相关。
Clin Neuropathol. 2020 Sep/Oct;39(5):238-242. doi: 10.5414/NP301260.
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Polysomy is associated with poor outcome in 1p/19q codeleted oligodendroglial tumors.多倍体与 1p/19q 联合缺失型少突胶质细胞瘤的不良预后相关。
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