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原发性脊柱哑铃形间叶性软骨肉瘤:一例报告并文献复习

Primary Spinal Dumbbell-Shaped Mesenchymal Chondrosarcoma: A Case Report and Review of the Literature.

作者信息

Nakamura Homare, Sase Taigen, Yanagisawa Nobuyuki, Takagi Masayuki, Murata Hidetoshi

机构信息

Department of Neurosurgery, St. Marianna University School of Medicine, Yokohama Seibu Hospital, Yokohama, JPN.

Department of Pathology, St. Marianna University School of Medicine, Kawasaki, JPN.

出版信息

Cureus. 2025 Jul 6;17(7):e87386. doi: 10.7759/cureus.87386. eCollection 2025 Jul.

Abstract

We report a rare case of a dumbbell-shaped mesenchymal chondrosarcoma (MCS) in the lumbar canal. A 29-year-old man presented with lower back pain and pain in the left leg. Magnetic resonance imaging (MRI) showed a homogeneously enhanced dumbbell-shaped mass at the left L2-3 level. The mass was intradurally located and extended extradurally into the extraforaminal space through the left L2-3 intervertebral foramen. Computed tomography (CT) showed a calcified portion in the intradural mass. We exposed and excised the tumor via a posterior approach through a hemi-laminectomy of the left L2-3. The tumor had penetrated the dura mater and required repair. Following surgery, his symptoms resolved completely. The most likely histopathological diagnosis was MCS. Histologic examination of our surgical samples revealed the typical biphasic pattern, but there was also cartilage matrix resembling osteoid. Finally, molecular assays confirmed the presence of the HEY1::NCOA2 fusion gene. Although spinal intradural extramedullary MCS is rare, only a few reports in the literature mention spinal dumbbell-shaped MCS. Following the removal of dumbbell-shaped MCS, the dura mater may require repair. While histopathological evaluation remains the gold standard for confirming a diagnosis of MCS, the HEY1::NCOA2 fusion gene is a specific molecular marker for MCS, and the presence of this gene has become a powerful tool for diagnosis.

摘要

我们报告了一例罕见的位于腰椎管内的哑铃形间叶性软骨肉瘤(MCS)。一名29岁男性出现下背部疼痛和左腿疼痛。磁共振成像(MRI)显示在左侧L2 - 3水平有一个均匀强化的哑铃形肿块。该肿块位于硬膜内,并通过左侧L2 - 3椎间孔硬膜外延伸至椎间孔外间隙。计算机断层扫描(CT)显示硬膜内肿块有钙化部分。我们通过左侧L2 - 3半椎板切除术经后路暴露并切除了肿瘤。肿瘤已穿透硬脑膜,需要修复。手术后,他的症状完全缓解。最可能的组织病理学诊断为MCS。对我们手术标本的组织学检查显示出典型的双相模式,但也有类似类骨质的软骨基质。最后,分子检测证实存在HEY1::NCOA2融合基因。尽管脊髓硬膜内髓外MCS罕见,但文献中仅有少数报道提及脊髓哑铃形MCS。切除哑铃形MCS后,硬脑膜可能需要修复。虽然组织病理学评估仍然是确诊MCS的金标准,但HEY1::NCOA2融合基因是MCS的特异性分子标志物,该基因的存在已成为一种强大的诊断工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f697/12324902/cae8f00da4c5/cureus-0017-00000087386-i01.jpg

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