考登综合征患者的多发性脑膜瘤
Multiple Meningiomas in a Patient with Cowden Syndrome.
作者信息
Pain Margaret, Darbinyan Armine, Fowkes Mary, Shrivastava Raj
机构信息
Department of Neurosurgery, The Mount Sinai Hospital, New York, New York, United States.
Department of Pathology, The Mount Sinai Hospital, New York, New York, United States.
出版信息
J Neurol Surg Rep. 2016 Jul;77(3):e128-33. doi: 10.1055/s-0036-1584265.
BACKGROUND
Cowden syndrome is a rare, multisystem disease manifesting with increased hamartomas and neoplasms. Though meningioma has been documented in patients with Cowden syndrome, the relationship between these two phenomena is still unclear.
CASE DESCRIPTION
We report a case of a 43-year-old female patient with a known PTEN mutation and clinical history of Cowden syndrome. A workup of headache demonstrated two skull base meningiomas. At the time of surgery, several additional tiny meningiomas were detected in the same region.
CONCLUSIONS
The development of multiple meningiomas in a patient with predisposition for tumor is more than coincidental. Though PTEN mutations and deletions have not been shown to be critical for meningioma development, this case challenges that conclusion. In light of recent genetic advances in meningioma molecular pathogenesis, the role of the PTEN/AKT/PI3K pathway is discussed.
背景
考登综合征是一种罕见的多系统疾病，表现为错构瘤和肿瘤增多。虽然考登综合征患者中已记录有脑膜瘤，但这两种现象之间的关系仍不清楚。
病例描述
我们报告一例43岁女性患者，已知存在PTEN突变且有考登综合征临床病史。对头痛进行的检查发现了两个颅底脑膜瘤。手术时，在同一区域检测到另外几个微小脑膜瘤。
结论
肿瘤易感性患者发生多发性脑膜瘤并非偶然。虽然尚未证明PTEN突变和缺失对脑膜瘤的发生至关重要，但该病例对这一结论提出了挑战。鉴于脑膜瘤分子发病机制的最新遗传学进展，讨论了PTEN/AKT/PI3K途径的作用。
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