Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges.
Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges.
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DOI：
10.1038/s41598-021-86298-9
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发表时间：
2021-03-26
影响因子：
4.6
通讯作者：
Saito N
中科院分区：
文献类型：
--
作者：
Okano A;Miyawaki S;Hongo H;Dofuku S;Teranishi Y;Mitsui J;Tanaka M;Shin M;Nakatomi H;Saito N
某些驱动突变和病理诊断与脑膜瘤的解剖部位有关，基于此脑膜具有不同的胚胎起源。我们假设脑膜瘤的突变和病理诊断与不同的胚胎起源有关。我们综合评估了269例脑膜瘤患者的肿瘤位置、病理诊断（组织学类型）和基因改变（包括AKT1、KLF4、SMO、POLR2A和NF2突变和22q缺失）之间的关系。根据脑膜的胚胎起源，肿瘤的位置如下：神经嵴、近轴中胚层和背侧中胚层。起源于某些胚胎起源硬脑膜的肿瘤表现出明显不同的病理诊断和遗传异常比例。例如，AKT1、KLF4、SMO和POLR2A驱动基因突变与近轴中胚层起源显著相关（p = 1.7 × 10−10）。然而，伴有nf2相关突变的脑膜瘤与神经嵴起源显著相关（p = 3.9 × 10-12）。在复发率分析中，未观察到胚胎起源的差异。然而，POLR2A突变是肿瘤复发的危险因素（p = 1.7 × 10−2，风险比4.08,95%可信区间1.28-13.0）。评估脑膜的胚胎起源可能为脑膜瘤的病理机制提供新的见解。
Certain driver mutations and pathological diagnoses are associated with the anatomical site of meningioma, based on which the meninges have different embryological origins. We hypothesized that mutations and pathological diagnoses of meningiomas are associated with different embryological origins. We comprehensively evaluated associations among tumor location, pathological diagnosis (histological type), and genetic alterations including AKT1, KLF4, SMO, POLR2A, and NF2 mutations and 22q deletion in 269 meningioma cases. Based on the embryological origin of meninges, the tumor locations were as follows: neural crest, paraxial mesodermal, and dorsal mesodermal origins. Tumors originating from the dura of certain embryologic origin displayed a significantly different pathological diagnoses and genetic abnormality ratio. For instance, driver genetic mutations with AKT1, KLF4, SMO, and POLR2A, were significantly associated with the paraxial mesodermal origin (p = 1.7 × 10−10). However, meningiomas with NF2-associated mutations were significantly associated with neural crest origin (p = 3.9 × 10–12). On analysis of recurrence, no difference was observed in embryological origin. However, POLR2A mutation was a risk factor for the tumor recurrence (p = 1.7 × 10−2, Hazard Ratio 4.08, 95% Confidence Interval 1.28–13.0). Assessment of the embryological origin of the meninges may provide novel insights into the pathomechanism of meningiomas.
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影响因子：
6.4
作者：
Goutagny, Stephane;Nault, Jean C.;Kalamarides, Michel
通讯作者：
Kalamarides, Michel
影响因子：
15.9
作者：
Abedalthagafi, Malak;Bi, Wenya Linda;Santagata, Sandro
通讯作者：
Santagata, Sandro
影响因子：
64.8
作者：
Liu, Yunhua;Zhang, Xinna;Lu, Xiongbin
通讯作者：
Lu, Xiongbin
影响因子：
8
作者：
Boetto, Julien;Apra, Caroline;Kalamarides, Michel
通讯作者：
Kalamarides, Michel
影响因子：
8
作者：
Kalamarides, M.;Stemmer-Rachamimov, A. O.;Giovannini, M.
通讯作者：
Giovannini, M.