| 摘要: |
| 目的 分析神经中轴钙化性假瘤（CAPNON）的临床病理学特征。方法 收集2019年9月至2021年9月海军军医大学（第二军医大学）第二附属医院诊断的3例CAPNON患者资料，分析其临床影像学特征、组织学形态、免疫组织化学表型和分子表型。结果 3例CAPNON患者中男1例、女2例，年龄分别为15、33、56岁，临床表现分别为四肢肌肉萎缩、间歇性腰背痛、间歇性头痛，影像学均表现为占位性病变。3例均采用手术切除治疗。手术标本组织学观察可见境界清楚的结节状软骨样基质及梭形间质细胞，伴钙化、骨化及沙砾体，病灶周围组织细胞增生反应，以及异物肉芽肿形成。免疫组织化学染色显示，组织细胞CD68（+），梭形间质细胞波形蛋白及上皮膜抗原（+）。基因检测结果显示，1例患者检出体细胞Fms相关酪氨酸激酶4基因c.1924G>A错义突变。随访17~41个月，3例均未见复发。结论 CAPNON是罕见的神经中轴纤维骨性病变，诊断需结合组织学形态及临床影像资料，分子病理学检测对其发病机制的研究或有帮助。 |
| 关键词: 神经中轴钙化性假瘤 临床病理特征 Fms相关酪氨酸激酶4 错义突变 |
| DOI：10.16781/j.CN31-2187/R.20230112 |
| 投稿时间：2023-03-13修订日期：2023-06-05 |
| 基金项目: |
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| Clinicopathologic observation of 3 cases of calcifying pseudoneoplasm of the neuraxis |
| ZHANG Zhengwei,LI Ying,MA Xiaomei,CHEN Jun,LI Weiqing* |
(Department of Pathology, The Second Affiliated Hospital of Naval Medical University (Second Military Medical University), Shanghai 200003, China
*Corresponding author) |
| Abstract: |
| Objective To investigate the clinicopathological features of calcifying pseudoneoplasms of the neuraxis (CAPNON). Methods The data of 3 CAPNON patients diagnosed in The Second Affiliated Hospital of Naval Medical University (Second Military Medical University) from Sep. 2019 to Sep. 2021 were collected, and their clinical imaging characteristics, histological morphology and immunohistochemical and molecular phenotypes were analyzed. Results The 3 CAPNON patients, 1 male and 2 females, were aged 15, 33 and 56 years old. Their clinical manifestations included limb muscle atrophy, intermittent low back pain and intermittent headache, and the imaging findings showed space occupying lesions. All 3 cases were treated by surgical resection. Histological observation showed nodular cartilage-like stroma and spindle-shaped stromal cells, with calcification, ossification and gravel bodies, histocyte reactions around the lesions and foreign body granuloma formation. Immunohistochemistry showed CD68 (+) in histocytes, vimentin and epithelial membrane antigen (+) in spindle mesenchymal cells. Genetic testing showed c.1924G>A missense mutation in somatic Fms-related tyrosine kinase 4 gene in 1 patient. No recurrence was found during a follow-up of 17-41 months. Conclusion CAPNON is a rare neuroaxial fibroskeletal lesion. The diagnosis of CAPNON should combine histological morphology and clinical imaging data, and molecular pathological examination may help to understand its pathogenesis. |
| Key words: calcifying pseudoneoplasms of the neuraxis clinicopathological features Fms-related tyrosine kinase 4 missense mutation |
