Rizvi Tanvir, Hussein Mohamed Z, Quezado Martha, Fadul Camilo E, Lopes Beatriz
Radiology and Medical Imaging, University of Virginia School of Medicine, Charlottesville, USA.
Diagnostic Radiology and Nuclear Medicine, Rush University Medical Center, Chicago, USA.
Cureus. 2024 Jul 19;16(7):e64947. doi: 10.7759/cureus.64947. eCollection 2024 Jul.
We report a case of a 57-year-old man with a tumor arising from the cauda equina with spinal cord and intracranial metastases in the basal cisterns and along the cranial nerves. He presented with severe lower back pain and mild gait imbalance. His imaging revealed a large mass in the lumbosacral region with involvement of the cauda equina, intradural extramedullary enhancing metastases in the thoracic spinal canal, and intracranial metastases in the suprasellar cistern and along both trigeminal and facial/vestibulocochlear nerve complexes. Pathological examination of the resected thoracic spinal cord mass showed an atypical papillary proliferation with moderate nuclear pleomorphism and rare mitotic figures. While the morphologic and immunophenotypic features were consistent with the diagnosis of a choroid plexus tumor, the atypical location for this entity required the exclusion of other epithelioid tumors with papillary architecture. Additional immunohistochemical markers were used to exclude a metastatic adenocarcinoma, a papillary variant of a meningioma, and a papillary variant of an ependymoma. Ultimately, methylation-based tumor profiling determined that the methylation class was a match for "plexus tumor" resulting in the integrated diagnosis of the tumor with features of choroid plexus papilloma. This is a unique presentation for both the location and the metastatic spread. The methylation profile was instrumental in establishing this diagnosis.
我们报告一例57岁男性病例,其肿瘤起源于马尾,伴有脊髓及颅内转移,转移灶位于脑基底池及沿脑神经分布。患者表现为严重的下背部疼痛和轻度步态失衡。影像学检查显示腰骶部有一巨大肿块,累及马尾,胸段椎管内硬膜内髓外强化转移灶,以及鞍上池和双侧三叉神经及面/前庭蜗神经复合体处的颅内转移灶。对切除的胸段脊髓肿块进行病理检查,显示为非典型乳头样增生,核中度异型性,罕见核分裂象。虽然形态学和免疫表型特征与脉络丛肿瘤的诊断相符,但该肿瘤的非典型位置需要排除其他具有乳头结构的上皮样肿瘤。使用额外的免疫组化标志物排除转移性腺癌、脑膜瘤乳头型变体和室管膜瘤乳头型变体。最终,基于甲基化的肿瘤分析确定甲基化类别与“丛状肿瘤”匹配,从而综合诊断该肿瘤具有脉络丛乳头状瘤的特征。这在肿瘤的位置和转移扩散方面都是一种独特的表现。甲基化谱对于确立这一诊断起到了重要作用。