以鞍上血管母細胞瘤為主要表現的VHL綜合征手術治療1例并文獻回顧

【摘要】 目的 探討Von Hippel-Lindau（VHL） 綜合征的臨床特點、影像學表現、病理診斷、治療方法及預后。方法 回顧性分析廣東三九腦科醫院2021年11月收治的1例以鞍上血管母細胞瘤為主要表現的VHL綜合征患者的臨床資料，并結合相關文獻進行復習。結果 患者予右側翼點入路行鞍上病變切除，術中見病變呈囊實性，推擠同側視神經致其扁平增寬，分離可見病變血供極其豐富，大部分質韌，予鏡下沿邊分離斷血供后完整切除腫瘤。術后病理檢查診斷為血管母細胞瘤。術后隨訪1年提示鞍上病變未見復發，右側小腦半球及頸4頸髓病變無明顯變化。結論 VHL綜合征的臨床癥狀因腫瘤的大小和位置而異，主要靠實驗室、影像學及基因檢測診斷，治療方法涉及手術及放射治療，需個體化選擇具體治療方法。

【關鍵詞】 鞍上血管母細胞瘤；VHL綜合征；腎囊腫；脊髓；pVHL

【中圖分類號】 R743" 【文獻標志碼】 B" 【文章編號】 1672-7770（2025）01-0117-04

Surgical treatment of VHL syndrome with supracellar angioblastoma as the main manifestation： a case report and literature review

Abstract： Objective To investigate the clinical features， imaging findings， pathological diagnosis， treatment and prognosis of Von Hippel-Lindau（VHL） syndrome." Methods The clinical data of a case of VHL syndrome with supracellar angioblastoma as the main manifestation who were admitted to Guangdong 999 Brain Hospital in November 2021 were reviewed and summarized. Results Supracellar lesion resection was performed through right pterion approach， and intraoperative lesions were cystic and solid， flattened and widened by squeezing the ipsilateral optic nerve. Most of the tumor was tough. The tumor was completely resected after the blood supply was cut off along the edge under the microscope. The postoperative pathological examination diagnosed angioblastoma. The 1-year follow-up showed no recurrence of supramellar lesions， and the lesions in the right cerebellar hemisphere were larger than before. Conclusions The clinical symptoms of VHL syndrome vary with tumor size and location， and the diagnosis mainly depends on laboratory， imaging and genetic testing. Specific treatment methods need to be selected individually.

Key words： supracellar angioblastoma; VHL syndrome; renal cyst; spinal cord; pVHL

Von Hippel-Lindau（VHL） 綜合征是由VHL腫瘤抑制基因種系突變引起的常染色體顯性遺傳病，以視網膜及中樞神經系統血管母細胞瘤和腹部多發良惡性腫瘤及囊腫為主要臨床表現，具有顯著的表型變異及年齡依賴性的外顯率［1］。中樞神經系統血管母細胞瘤發生在近50%的VHL綜合征患者中，常見發生部位是小腦、腦干（約占80%）和脊髓（約占20%），腦中病變絕大多數出現在幕下［2］，以鞍上血管母細胞瘤為主要表現的VHL綜合征病例國內外罕見報道，本研究回顧性分析廣東三九腦科醫院2021年11月收治的1例以鞍上血管母細胞瘤為主要表現的VHL綜合征患者的臨床資料，旨在為該病的診治提供一些線索及思考。……