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与PTEN错构瘤综合征相关的椎旁动静脉分流:一例报告及文献综述

Paraspinal Arteriovenous Shunt Associated with PTEN Hamartoma Tumor Syndrome: A Case Report and Literature Review.

作者信息

Ito Sayaka, Hatsuda Naoki

机构信息

Department of Neurosurgery, Kohka Public Hospital, Minakuchi, Kohka, Shiga, Japan.

出版信息

Acta Neurochir Suppl. 2025;136:69-71. doi: 10.1007/978-3-031-89844-0_8.

Abstract

Having a paraspinal arteriovenous shunt located in the paraspinal region outside the spinal canal is rare. Germline phosphatase and tensin homolog gene (PTEN) mutations have been noted in cases with a specific paraspinal arteriovenous shunt. We report a patient with a paraspinal arteriovenous shunt with multiple primary cancers and report a germline mutation diagnosed with PTEN hamartoma syndrome. PTEN hamartoma syndrome can manifest as various cancers. Early diagnosis of PTEN hamartoma syndrome is essential for improving patient prognosis and life expectancy. The coexistence of multiple primary cancers and vascular malformations can be considered red flags for PTEN hamartoma syndrome.

摘要

椎管外椎旁区域存在椎旁动静脉分流极为罕见。在特定的椎旁动静脉分流病例中已发现种系磷酸酶和张力蛋白同源基因(PTEN)突变。我们报告了一名患有椎旁动静脉分流并伴有多种原发性癌症的患者,并报告了经诊断患有PTEN错构瘤综合征的种系突变。PTEN错构瘤综合征可表现为多种癌症。PTEN错构瘤综合征的早期诊断对于改善患者预后和预期寿命至关重要。多种原发性癌症和血管畸形的共存可被视为PTEN错构瘤综合征的警示信号。

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