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

Q2 Medicine
Sayaka Ito, Naoki Hatsuda
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引用次数: 0

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.

椎旁动静脉分流合并PTEN错构瘤综合征1例报告及文献复习。
椎管外的椎旁区有椎旁动静脉分流术是罕见的。种系磷酸酶和紧张素同源基因(PTEN)突变已注意到的情况下,与特定的脊髓旁动静脉分流。我们报告一位患有多发性原发癌症的椎旁动静脉分流患者,并报告一种系突变诊断为PTEN错构瘤综合征。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。多种原发癌症和血管畸形的共存可以被认为是PTEN错构瘤综合征的危险信号。
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来源期刊
CiteScore
1.90
自引率
0.00%
发文量
2
期刊介绍: In addition to the regular journal, "Acta Neurochirurgica" publishes 3-4 supplement volumes per year. These comprise proceedings of international meetings or other material of general neurosurgical interest.
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