Treffy Randall W, Rahman Mahmudur, DeGroot Andrew L, Bakhaidar Mohamad G M, Hussain Omar, Nerva John D, Connelly Jennifer M, Shabani Saman
Department of Neurosurgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Medical College of Wisconsin School of Medicine, Milwaukee, Wisconsin, USA.
World Neurosurg. 2025 Jun;198:123976. doi: 10.1016/j.wneu.2025.123976. Epub 2025 Apr 11.
Paragangliomas are rare neuroendocrine tumors that can manifest with endocrinological symptoms from excessive catecholamine secretion and symptoms from mass effect depending on biochemical behavior and tumor location.
Following an encounter with a patient with a rare case of paraganglioma of the thoracic spine, a systematic review was performed of patients with a diagnosis of paraganglioma and SDHB mutation. Inclusion criteria were met by 14 studies for a total of 66 patients.
A 55-year-old man with a known history of treated metastatic paraganglioma with SDHB mutation presented with progressive weakness in his extremities. He was found to have significant spinal cord compression from a lesion localized to T1-T3 vertebrae with vertebral body as well as epidural involvement. This area was previously treated with laminectomy and fusion as well as radiotherapy. Given his neurological symptoms and failure of previous radiotherapy treatment, our treatment approach was aggressive multidisciplinary intervention. He successfully underwent endovascular embolization, surgical resection with instrumented fusion, radiotherapy, and chemotherapy with temozolomide to treat this lesion as well as an incidentally located T12 lesion. Given the rarity of this disease, we performed a systematic review of paraganglioma with SDHB mutation, which demonstrated a wide variety of treatment options.
Although metastatic/multifocal paragangliomas are rare, their occasional relentless course may require complex multidisciplinary treatment to maximize neurological and oncological outcomes.
副神经节瘤是罕见的神经内分泌肿瘤，可因儿茶酚胺分泌过多而出现内分泌症状，并根据生化行为和肿瘤位置出现占位效应相关症状。
在遇到一例罕见的胸椎副神经节瘤患者后，对诊断为副神经节瘤且存在SDHB突变的患者进行了系统评价。14项研究符合纳入标准，共纳入66例患者。
一名55岁男性，有已知的经治疗的转移性副神经节瘤伴SDHB突变病史，出现进行性肢体无力。发现其脊髓因T1 - T3椎体局部病变伴椎体及硬膜外受累而受到严重压迫。该区域先前已接受椎板切除术、融合术及放疗。鉴于其神经症状及先前放疗治疗失败，我们的治疗方法是积极的多学科干预。他成功接受了血管内栓塞、器械辅助融合的手术切除、放疗以及替莫唑胺化疗，以治疗该病变以及偶然发现的T12病变。鉴于该疾病的罕见性，我们对伴有SDHB突变的副神经节瘤进行了系统评价，结果显示有多种治疗选择。
尽管转移性/多灶性副神经节瘤罕见，但其偶尔的进展性病程可能需要复杂的多学科治疗，以实现最佳的神经学和肿瘤学预后。
