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脑膜血管外皮细胞瘤和间叶性软骨肉瘤是否为同一疾病:一项关于 HEY1-NCOA2 融合的研究。

Are meningeal hemangiopericytoma and mesenchymal chondrosarcoma the same?: a study of HEY1-NCOA2 fusion.

机构信息

Mayo Clinic, Dept of Anatomic Pathology, Hilton 11, 200 First St, SW, Rochester, MN 55905;

出版信息

Am J Clin Pathol. 2013 Nov;140(5):670-4. doi: 10.1309/AJCPGUNGP52ZSDNS.

DOI:10.1309/AJCPGUNGP52ZSDNS
PMID:24124145
Abstract

OBJECTIVES

Meningeal hemangiopericytoma (HPC) and mesenchymal chondrosarcoma are aggressive neoplasms with a propensity to involve the meninges and dura. In addition to similar clinical presentations, both meningeal HPC and mesenchymal chondrosarcoma share overlapping morphologic features, including ovoid cells, variable collagen deposition, and a branching vascular pattern. Recently, a novel HEY1-NCOA2 fusion was reported as a recurrent event in mesenchymal chondrosarcomas.

METHODS

Thirteen mesenchymal chondrosarcomas and 18 meningeal HPCs were identified from surgical pathology archives, and the tumors were evaluated for HEY1-NCOA2 fusion with reverse transcriptase-polymerase chain reaction (RT-PCR).

RESULTS

HEY1-NCOA2 fusion transcript was detected in all six cases of mesenchymal chondrosarcoma but in none of the meningeal HPC cases (0/11) that were evaluable with RT-PCR.

CONCLUSIONS

These results show that (1) meningeal HPC and mesenchymal chondrosarcoma are distinct at the molecular level, and (2) the identification of HEY1-NCOA2 can be used as an auxiliary diagnostic tool to differentiate these entities.

摘要

目的

脑脊膜血管外皮细胞瘤(HPC)和间叶性软骨肉瘤是具有脑膜和硬脑膜侵袭倾向的侵袭性肿瘤。除了相似的临床表现外,脑脊膜 HPC 和间叶性软骨肉瘤还具有重叠的形态学特征,包括卵圆形细胞、可变的胶原沉积和分支状血管模式。最近,一种新型的 HEY1-NCOA2 融合被报道为间叶性软骨肉瘤的复发性事件。

方法

从外科病理档案中确定了 13 例间叶性软骨肉瘤和 18 例脑脊膜 HPC,并通过逆转录聚合酶链反应(RT-PCR)评估这些肿瘤中是否存在 HEY1-NCOA2 融合。

结果

在可通过 RT-PCR 评估的 6 例间叶性软骨肉瘤中均检测到 HEY1-NCOA2 融合转录本,但在 11 例脑脊膜 HPC 中均未检测到(0/11)。

结论

这些结果表明:(1)脑脊膜 HPC 和间叶性软骨肉瘤在分子水平上是不同的;(2)HEY1-NCOA2 的鉴定可作为辅助诊断工具,用于区分这些实体。

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J Pathol. 2022 Aug;257(5):579-592. doi: 10.1002/path.5899. Epub 2022 Apr 26.
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Intracranial Mesenchymal Chondrosarcoma Lacking the Typical Histopathological Features Diagnosed by Gene Fusion.通过基因融合诊断的缺乏典型组织病理学特征的颅内间叶性软骨肉瘤
NMC Case Rep J. 2020 Mar 24;7(2):47-52. doi: 10.2176/nmccrj.cr.2019-0123. eCollection 2020 Apr.
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Primary mesenchymal chondrosarcoma of the kidney without and fusion: A case report and review.
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