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Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko最新文献

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[Sellar collision tumors: difficulties of preoperative neuroimaging and selection of surgical approach. Case reports and literature review]. 鞍部碰撞肿瘤:术前神经影像学的难点和手术入路的选择。病例报告及文献综述]。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro20258903175
M Yu Kurnukhina, V Yu Cherebillo, G V Gavrilov, V A Grachev

Sellar tumors are predominantly benign neoplasms accounting for approximately 14-18% of all brain tumors. For many decades, there have been a few clinical cases confirming possible simultaneous coexistence of two nosological groups in one area. We present 2 rare cases of sellar collision tumors (a 61-year-old male with pituitary adenoma and craniopharyngioma; a 68-year-old female with pituitary adenoma and meningioma of tubercle), clinical features, anamnesis, preoperative neuroimaging, intraoperative picture and postoperative outcomes. Combination of pituitary adenoma and craniopharyngioma/ meningioma as a type of collision tumors requires caution at all stages of treatment due to impossible preoperative analysis of tumor density and, accordingly, correct choice of surgical access. Transsphenoidal endoscopic access reduces mortality rate according to literature data. Preoperative MR elastometry needs to be studied in depth including patients with sellar collision tumors.

鞍区肿瘤主要是良性肿瘤,约占所有脑肿瘤的14-18%。几十年来,有一些临床病例证实在一个地区可能同时存在两个疾病组。我们报告2例罕见的鞍部碰撞性肿瘤(1例61岁男性合并垂体腺瘤及颅咽管瘤;本文报告一名68岁女性垂体腺瘤及结节性脑膜瘤的临床特征、记忆、术前神经影像学、术中图像及术后结果。垂体腺瘤合并颅咽管瘤/脑膜瘤作为一种碰撞肿瘤,由于术前无法对肿瘤密度进行分析,因此在治疗的各个阶段都需要谨慎,并正确选择手术通路。根据文献资料,经蝶窦内镜入路可降低死亡率。术前MR弹性测量需要深入研究,包括鞍区碰撞肿瘤患者。
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引用次数: 0
[Stereo-EEG-guided radiofrequency thermocoagulations in drug-resistant focal epilepsy]. [立体脑电图引导射频热凝治疗耐药局灶性癫痫]。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro2025890317
A V Dimertsev, N V Pedyash, Kh O Shavkatbekov, N P Utyashev, E A Gordeeva, A A Zuev, Yu V Batmanova

Background: Preoperative examination of patients with focal drug-resistant epilepsy requires invasive diagnostic methods in 30-40% of cases. Stereo-EEG is one of them and often the most significant for verification of epileptogenic zone and its subsequent resection. The desire to minimize surgical trauma led to idea of local radiofrequency thermocoagulation through SEEG electrodes [1]. This allows destruction of epileptogenic zones during examination. Despite the safety of this method, appropriate studies are contradictory and require further analysis [2].

Objective: To clarify the role of radiofrequency thermocoagulation in diagnosis and treatment of patients with focal drug-resistant epilepsy.

Material and methods: A single-center retrospective study included 75 patients with focal drug-resistant epilepsy who underwent radiofrequency thermocoagulation between 2020 and 2023. The results were assessed 6 and 12 months after thermocoagulation.

Results: Six-month freedom from seizures was 35% (26 patients). Seizure rate decreased by more than 50% (McHugh I-II) in 39 (52%) patients. Most patients with the McHugh II outcome (10 out of 12) experienced less incidence and intensity of seizures. This made unnecessary subsequent surgery. MR-negative nature of epilepsy (p=0.015), right-sided localization of epileptogenic substrate (p=0.032) and bihemispheric distribution (p=0.05) were negative predictors of treatment outcomes. A relationship was found between localization of radiofrequency thermocoagulation in the frontal lobe and freedom from seizures. Mean volume of one thermocoagulation point was 0.98±0.3 cm3. The number of points did not significantly influence the outcomes either for the McHugh scale (p=0.654) or for the Engel scale (p=0.288). Total volume of thermocoagulation foci ranged from 0.52 to 13.5 cm3 (mean 3.85±2.9). Twenty-six (35%) patients underwent surgery for persistent and/or recurrent seizures after radiofrequency thermocoagulation (SEEG-guided resection of epileptogenic zones). After 12 months, freedom from seizures was 28% (21 patients), seizure rate decrease by more than 50% (McHugh I-II) was observed in 33 (44%) patients. McHugh class III outcome was observed in 12 patients (16%). MR-negative nature of epilepsy (p=0.009) and right-sided localization of epileptogenic substrate (p<0.001) were negative predictors regarding Engel I outcomes.

Conclusion: Stereo-EEG-guided radiofrequency thermocoagulation is a unique and safe technique significantly reducing the incidence and intensity of epileptic seizures in patients with focal drug-resistant epilepsy with minimal iatrogenic risk.

背景:30-40%的局灶性耐药癫痫患者术前检查需要采用侵入性诊断方法。立体脑电图是其中的一种,通常是最重要的癫痫区验证和随后的切除。为了尽量减少手术创伤,我们提出了通过SEEG电极[1]进行局部射频热凝的想法。这允许在检查时破坏致癫痫区。尽管这种方法是安全的,但适当的研究是矛盾的,需要进一步分析。目的:探讨射频热凝在局灶性耐药癫痫诊断和治疗中的作用。材料和方法:一项单中心回顾性研究纳入了2020年至2023年间接受射频热凝治疗的75例局灶性耐药癫痫患者。在热凝后6个月和12个月评估结果。结果:6个月癫痫发作自由率为35%(26例)。39例(52%)患者癫痫发作率下降50%以上(McHugh I-II)。大多数McHugh II型患者(12例中有10例)癫痫发作的发生率和强度都较低。这导致了不必要的后续手术。癫痫的mri阴性性质(p=0.015)、癫痫源性底物的右侧定位(p=0.032)和双脑分布(p=0.05)是治疗结果的阴性预测因子。发现了额叶射频热凝定位与癫痫发作自由之间的关系。一个热凝点的平均体积为0.98±0.3 cm3。无论是McHugh量表(p=0.654)还是Engel量表(p=0.288),点数对结果都没有显著影响。热凝病灶的总体积范围为0.52 ~ 13.5 cm3(平均3.85±2.9)。26例(35%)患者在射频热凝(seeg引导下切除致痫区)后接受了持续和/或复发性癫痫发作的手术。12个月后,21例(28%)患者癫痫不再发作,33例(44%)患者癫痫发作率下降50%以上(McHugh I-II)。12例患者(16%)观察到McHugh III级结局。结论:立体脑电图引导下射频热凝是一种独特、安全的技术,可显著降低局灶性耐药癫痫患者癫痫发作的发生率和强度,且医源性风险最小。
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引用次数: 0
[Surgical treatment of posthemorrhagic hydrocephalus in premature infants]. 早产儿出血性脑积水的外科治疗。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro2025890417
E A Bogoslovskaya, S K Gorelyshev, U V Tomale, A Yu Akimov, A V Alekseev, K A Bardeeva, V V Demyanenko, S S Zolotarev, S A Kirsanov, K A Kovalkov, I I Larkin, S B Medoev, R M Pankratiev, D R Pogosova, A V Seliverstov, A S Sukharev, A G Timershin, O A Usatova, E F Fatykhova, A S Shapovalov

Rationale: Hydrocephalus as a consequence of intraventricular hemorrhage (IVH) in premature infants is a life-threatening complication of the neonatal period. The question remains as to which methods are best to be used for temporary drainage of cerebrospinal fluid until sufficient body mass for possible shunt implantation is achieved.

Objective: Is to compare four methods of temporary treatment of posthemorrhagic hydrocephalus in terms of their safety and effectiveness.

Material and methods: A multicenter (12 healthcare facilities of the Russian Federation) prospective study included 165 premature infants with IVH and signs of worsening enlargement of the ventricles. External ventricular drainage (EVD) was used in 43 observations, ventriculosubgaleal shunt (VSGS) in 93 observations, neuroendoscopic lavage (NEL) in 25 observations and Ommaya reservoir - in 4. Methods were compared by effectiveness and postoperative complications. The examination of patients in catamnesis was carried out at the age of 6, 12, 24 and 36 months.

Results: Differences regarding brain tissue defect in the access zone (the highest in the NEL group and the lowest in EVD group, p<0.001); multilocular hydrocephalus frequency (the highest in the EVD group - 33% and the lowest in the NEL group - 17%, p<0.05); proportion of patients in need of permanent shunting (the highest indicator in the VSGS group - 88.1% and the lowest in the NEL group - 57%, p<0.001); number of infectious complications (most of all in the EVD group - 12%, the lowest in the NEL group - 0%) have been revealed. The best indicators of children's motor development have been noted in the NEL group (2.25), the worst in the EVD group - 3.75. Long-term mortality in the distant period amounted to 7%.

Conclusion: The most effective method of temporary arresting of hydrocephalus is neuroendoscopic lavage. It has a minimal number of infectious and other complications, the best hydrocephalus stabilization, low percentage of complicated hydrocephalus (multilocular) and the best motor development indicators and does not require reinterventions.

理由:脑积水作为脑室内出血(IVH)的后果在早产儿是一个危及生命的并发症的新生儿期。问题仍然是,在达到足够的体重以可能的分流器植入之前,哪种方法最好用于暂时引流脑脊液。目的:比较四种暂时治疗出血性脑积水的方法的安全性和有效性。材料和方法:一项多中心(俄罗斯联邦的12家医疗机构)前瞻性研究包括165名IVH早产儿和心室扩大恶化的迹象。采用脑室外引流(EVD) 43例,脑室galeal下分流(VSGS) 93例,神经内窥镜灌洗(NEL) 25例,Ommaya储液器4例。比较两种方法的疗效及术后并发症。分别在6、12、24、36个月时对患者进行检查。结果:通路区脑组织缺损差异(NEL组最高,EVD组最低,ppp)结论:神经内窥镜灌洗是暂时阻断脑积水最有效的方法。它具有最少的感染和其他并发症,最好的脑积水稳定性,低百分比的复杂脑积水(多房)和最好的运动发育指标,不需要再干预。
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引用次数: 0
[Glymphatic system in health and disease: a narrative review]. [健康和疾病中的淋巴系统:叙述性回顾]。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro202589041112
A R Grishina, O M Vorobyova, I A Danilova, L B Mitrofanova

The main functional parts of the glymphatic system are perivascular spaces and surrounding astrocytes. Cerebrospinal fluid enters the brain parenchyma from subarachnoid cisterns through perivascular Virchow-Robin spaces and passes into the interstitium through aquaporin channels in astrocytes. Then, cerebrospinal fluid removes metabolic products and mixes with interstitial fluid. Outflow of cerebrospinal fluid with metabolic products from the brain parenchyma occurs in three ways. The first route is periarterial through intermuscular spaces in the middle layer of cerebral arteries. The second route is perivenous. The third route is lymphatic through meningeal or sinus-associated lymphatic vessels. They provide drainage of macromolecules and immunocompetent cells from the brain to the cervical lymph nodes. Gliomas are accompanied by inhibition of normal cerebrospinal fluid outflow pathways, mainly due to additional intracranial tissue, and compensatory cerebrospinal fluid outflow along the spinal cord. Reduced cerebrospinal fluid release with impaired outflow contribute to accumulation of toxic metabolic products, proinflammatory cytokines and chemokines. Transport of antigens to lymph nodes is inhibited that disrupts antitumor immunity. Impaired cerebrospinal fluid circulation also reduces the effectiveness of intracranial drug delivery. One of the mechanisms of pathogenesis of glioma metastasis is based on migration of tumor cells along classical and meningeal lymphatic pathways. Damage to the latter contributes to metastasis.

淋巴系统的主要功能部分是血管周围空间和周围的星形胶质细胞。脑脊液从蛛网膜下腔池经血管周围Virchow-Robin间隙进入脑实质,并通过星形胶质细胞的水通道进入间质。然后,脑脊液除去代谢产物并与间质液混合。脑脊液随代谢产物从脑实质流出有三种方式。第一种途径是动脉周围,通过大脑动脉中间层的肌间间隙。第二条途径是静脉周围。第三种途径是淋巴管通过脑膜或窦相关淋巴管。它们提供大分子和免疫细胞从大脑到颈部淋巴结的引流。胶质瘤伴随着正常脑脊液流出途径的抑制,主要是由于额外的颅内组织和代偿性脑脊液沿脊髓流出。脑脊液释放减少,流出受损,有助于有毒代谢产物、促炎细胞因子和趋化因子的积累。抗原向淋巴结的运输被抑制,从而破坏抗肿瘤免疫。脑脊液循环受损也会降低颅内给药的有效性。胶质瘤转移的发病机制之一是基于肿瘤细胞沿经典和脑膜淋巴通路的迁移。后者的损伤会导致转移。
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引用次数: 0
[Review of the book by A.A. Skoromets, A.V. Amelin, E.R. Barantsevich, I.A. Voznyuk, A.P. Skoromets, T.A. Skoromets, V.A. Sorokoumov, N.V. Shuleshova Cerebral Angioneurology, ed. by Academician of the Russian Academy of Sciences Yu.A. Shcherbuk: in 2 vols. St. Petersburg: Polytechnic; 2024]. [作者:A.A. Skoromets, A.V. Amelin, E.R. Barantsevich, I.A. Voznyuk, A.P. Skoromets, T.A. Skoromets, V.A. Sorokoumov, N.V. Shuleshova脑血管神经学,俄罗斯科学院院士编]Shcherbuk: 2卷。圣彼得堡:理工学院;2024]。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro202589041127
G E Chmutin

Review of the book by A.A. Skoromets, A.V. Amelin, E.R. Barantsevich, I.A. Voznyuk, A.P. Skoromets, T.A. Skoromets, V.A. Sorokoumov, N.V. Shuleshova Cerebral Angioneurology, ed. by Academician of the Russian Academy of Sciences Yu.A. Shcherbuk: in 2 vols. St. Petersburg: Polytechnic; 2024.

作者:A.A. Skoromets, A.V. Amelin, E.R. Barantsevich, I.A. Voznyuk, A.P. Skoromets, T.A. Skoromets, V.A. Sorokoumov, N.V. Shuleshova脑血管神经学,俄罗斯科学院院士编。Shcherbuk: 2卷。圣彼得堡:理工学院;2024.
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引用次数: 0
[Metastatic meningiomas: a case series and literature review]. 【转移性脑膜瘤:病例系列及文献回顾】。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro20258903183
N I Mikhailov, A M Zaitsev, M A Kucheryavykh, P Yu Petrova, O N Kirsanova, Kh S Kosumova

Background: The probability of meningiomas metastasizing is 0.18%, and the causes are unclear. The most common localizations of extracranial metastases are lung (37.2%), bones (16.5%) and liver (9.2%). There are no effective treatment algorithms for metastatic meningiomas. Treatment tactics consists of symptomatic surgery and radiotherapy.

Material and methods: We present 3 patients including a 75-year-old woman with grade 1 meningioma and metastasis to occipital lymph node, a 59-year-old man with meningioma grade 2 and lung metastasis, a 45-year-old woman with grade 2 meningioma with extracranial component and lung metastasis.

Results and discussion: A female patient with grade 1 meningioma and occipital lymph node metastasis showed clinical stabilization after surgical treatment. The follow-up was 14 months. Treatment with nitrosourea was ineffective for metastatic lung lesions in a patient with grade II meningioma. Combination of bevacizumab and everolimus in a patient with G2 meningioma within craniovertebral junction and metastatic lung lesion achieved stabilization in all foci. The follow-up was 6 months.

Conclusion: It is necessary to continue accumulation of clinical experience due to rarity of meningioma metastasizing. Treatment of such patients remains individual.

背景:脑膜瘤转移的概率为0.18%,原因尚不清楚。颅外转移最常见的部位是肺(37.2%)、骨(16.5%)和肝(9.2%)。转移性脑膜瘤没有有效的治疗方法。治疗策略包括对症手术和放疗。材料和方法:我们报告了3例患者,包括一名75岁的女性1级脑膜瘤并转移到枕部淋巴结,一名59岁的男性2级脑膜瘤并肺转移,一名45岁的女性2级脑膜瘤伴颅外成分和肺转移。结果与讨论:1例女性1级脑膜瘤伴枕部淋巴结转移患者经手术治疗后临床稳定。随访14个月。亚硝基脲治疗对II级脑膜瘤患者的转移性肺病变无效。贝伐单抗联合依维莫司治疗颅椎交界处的G2脑膜瘤和转移性肺病变患者,所有病灶均稳定。随访6个月。结论:脑膜瘤转移罕见,有必要继续积累临床经验。这类患者的治疗仍然是个体化的。
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引用次数: 0
[Aptamer-based conjugated molecules in experimental and clinical approaches to treatment of glioblastoma]. [基于适配体的共轭分子在实验和临床治疗胶质母细胞瘤中的应用]。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro20258906244
G L Kobyakov, G V Pavlova, A M Kopylov, T S Bezbabicheva, D Yu Usachev

Glioblastoma is the most common primary malignant tumor of nervous system and one of the most incurable human tumors. The median of overall survival is 16-17 months after comprehensive treatment. Among various difficulties for new therapeutic approaches, we should emphasize the blood-brain barrier complicating delivery of anti-cancer drugs to neoplasm and perifocal area. A promising approach is aptamer molecules as synthetic amino acid analogs capable of interacting and regulating activity of target proteins based on their spatial structural interactions. Aptamers possess high specificity and affinity to various receptors on cell surface and inside its structures if they penetrate cell membrane. In this review, we present various approaches to development of aptamer-based drugs against glioblastoma. Kopylov A.M. et al. synthesized a series of aptamers targeting EGFR and capable for delivery of toxic agents to tumor cells. Important clinical successes include the results of NOX-A12 drug and data on combined drugs based on trastuzumab in patients with metastatic breast cancer. NOX-A12 is an aptamer blocking CXCL-12 gene and reducing resistance to irradiation of glioblastoma cells. Furthermore, very high control of breast cancer brain metastases in HER-2 positive cases was demonstrated for trastuzumab-emtansine and trastuzumab-deruxtecan. The last finding indicates the perspective for aptamer targeting glioblastoma tumor cells in conjugation with emtansine or deruxtecan.

胶质母细胞瘤是最常见的神经系统原发恶性肿瘤,也是人类最难以治愈的肿瘤之一。综合治疗后总生存期中位数为16-17个月。在新的治疗方法面临的诸多困难中,我们应该强调血脑屏障对肿瘤和局灶周围抗癌药物递送的影响。一种很有前途的方法是利用适体分子作为合成氨基酸类似物,通过它们的空间结构相互作用来相互作用和调节靶蛋白的活性。适配体穿透细胞膜后,对细胞表面和结构内的各种受体具有高度的特异性和亲和力。在这篇综述中,我们介绍了基于适配体的胶质母细胞瘤药物的各种开发方法。Kopylov A.M.等人合成了一系列靶向EGFR的适配体,能够向肿瘤细胞传递有毒物质。重要的临床成功包括NOX-A12药物的结果和基于曲妥珠单抗的联合药物在转移性乳腺癌患者中的数据。NOX-A12是一种阻断CXCL-12基因的适体,可降低胶质母细胞瘤细胞对辐照的抗性。此外,HER-2阳性病例中,曲妥珠单抗-emtansine和曲妥珠单抗-deruxtecan具有非常高的乳腺癌脑转移控制性。最后的发现表明了与emtansine或deruxtecan结合靶向胶质母细胞瘤细胞的适体的前景。
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引用次数: 0
[Surgical treatment of eccentric-fusiform aneurysm of proximal basilar artery. Case report and literature review]. 基底动脉近端偏心梭状动脉瘤的外科治疗。病例报告及文献复习]。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro20258903192
A O Sosnov, A V Dubovoy, S Yu Yulusov, D M Galaktionov, A V Gogolev

Basilar artery aneurysm is a rare and difficult pathology that can require combination of various surgical methods. The authors present successful combined endovascular and microsurgical treatment of fusiform aneurysm of proximal basilar artery and confluence of vertebral arteries with high origin of the left posterior inferior cerebellar artery from aneurysm dome. The choice of preliminary revascularization of functionally significant artery involved in aneurysm and subsequent endovascular occlusion of aneurysm are considered.

基底动脉动脉瘤是一种罕见且困难的病理,需要多种手术方法的结合。本文报道了颅底动脉近端及左小脑后下动脉高起点椎动脉汇合处梭状动脉瘤的血管内及显微外科联合治疗的成功案例。考虑了动脉瘤累及的功能性重要动脉的初步血运重建的选择和随后的动脉瘤血管内闭塞。
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引用次数: 0
[Internal thoracic artery for high-flow extra-intracranial bypass graft. Case report and literature review]. 胸腔内动脉用于高流量颅内外搭桥术。病例报告及文献复习]。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro202589031100
O A Pavlov, A V Dubovoy, K N Babichev, M A Snegirev

Objective: To describe the first experience of internal thoracic artery for high-flow extra-intracranial bypass.

Material and methods: Internal thoracic artery was used for high-flow extra-intracranial bypass in a patient with giant aneurysm of internal carotid artery. Internal thoracic artery harvesting technique is presented. A systematic review is devoted to the role of internal thoracic artery in neurosurgery. The main advantages and disadvantages of internal thoracic artery are described.

Results: High-flow extra-intracranial bypass through internal thoracic artery allowed safe ICA occlusion. CT- angiography confirmed graft patency.

Conclusion: We present the first experience of internal thoracic artery for high-flow bypass. The advantages and disadvantages are described. A final decision in favor of one or another graft requires further research.

目的:探讨经胸内动脉行高流量颅内外搭桥术的首次经验。材料与方法:采用胸内动脉行高流量颅内外搭桥治疗一例颈内动脉瘤患者。介绍了胸内动脉采集技术。系统回顾了胸内动脉在神经外科中的作用。介绍了胸内动脉的主要优点和缺点。结果:经胸内动脉的高流量颅内外旁路手术可实现ICA的安全闭塞。CT血管造影证实移植物通畅。结论:首次采用胸内动脉进行高流量搭桥术。介绍了其优点和缺点。最终的决定是支持一种还是另一种移植需要进一步的研究。
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引用次数: 0
[TERTp mutation screening using digital droplet PCR of collection of 52 paired DNA samples from blood plasma and tumor tissue in patients with glioblastoma]. [利用数字液滴PCR对胶质母细胞瘤患者血浆和肿瘤组织中52对DNA样本进行TERTp突变筛选]。
Q4 Medicine Pub Date : 2025-01-01 DOI: 10.17116/neiro20258905187
T N Hasanau, E K Pisarev, A V Sergeev, S F Drozd, S A Pavlova, D Yu Panteleev, G V Pavlova, I N Pronin, M E Zvereva

Objective: To test the possibility of creating a non-invasive system for differential diagnosis and molecular-genetic characterization of tumor lesions of the CNS based on the determination of mutations of promoter of telomerase (TERTp) C228T and C250T catalyst subunit through the example of glioblastoma.

Material and methods: The collection of blood plasma samples and tissues of freshly frozen tumor samples was obtained in pairwise correspondence from 52 patients, who were treated in NMRC of Neurosurgery named after Academician N.N. Burdenko in 2022-2023. The digital droplet PCR (ddPCR) method using fluorescently labeled TaqMan probes was used for absolute quantification of C228T and C250T TERTp mutations in DNA samples extracted from the collection by commercial kits. The analysis of ddPCR data was performed with a baseline depending on the level of control reaction signal without adding a DNA matrix.

Results: Analysis of the sample of 52 patients' paired DNA (plasma-tissue) has shown the presence of C228T and C250T mutations in tumor samples: C228T was found in 33 cases (63.5%), and C250T in 14 cases (26.9%). In samples of cell-free DNA (CFDNA), 5 samples with C228T mutation and 3 samples with C250T mutation were found. C228T mutation was found in 15.1% and C250T mutation - in 21.4%.

Conclusion: TERTp mutations, specific for tumor DNA of glioblastomas, are determined by ddPCR in both the tumor sample and the CFDNA of the blood plasma, which indicates the transition of tumor DNA into the circulating (ctDNA) and that the ctDNA passes through the blood-brain barrier (BBB) of patients. The possibility of non-invasive molecular genetic characterization of tumor lesions of the CNS in blood plasma of patients with glioblastoma has been tested. The obtained results' analysis shows the need to optimize the extraction of CFDNA and modify the testing system to improve the method's effectiveness.

目的:以胶质母细胞瘤为例,探讨基于端粒酶启动子(TERTp) C228T和C250T催化剂亚基突变的检测,建立无创中枢神经系统肿瘤病变鉴别诊断和分子遗传学表征系统的可能性。材料和方法:收集52例患者的血浆样本和新鲜冷冻肿瘤样本的组织成对对应,这些患者于2022-2023年在以N.N. Burdenko院士命名的神经外科NMRC接受治疗。采用荧光标记TaqMan探针的数字液滴PCR (ddPCR)方法对商业试剂盒中提取的DNA样本中C228T和C250T TERTp突变进行绝对定量。在不添加DNA基质的情况下,根据对照反应信号的水平以基线进行ddPCR数据分析。结果:52例患者配对DNA(血浆-组织)样本分析显示肿瘤样本中存在C228T和C250T突变:C228T 33例(63.5%),C250T 14例(26.9%)。在游离DNA (CFDNA)样本中,发现C228T突变5例,C250T突变3例。C228T突变占15.1%,C250T突变占21.4%。结论:肿瘤样本和血浆CFDNA均通过ddPCR检测到恶性胶质瘤肿瘤DNA特异性TERTp突变,提示肿瘤DNA进入循环(ctDNA), ctDNA通过患者血脑屏障(BBB)。对胶质母细胞瘤患者血浆中中枢神经系统肿瘤病变进行非侵入性分子遗传学表征的可能性进行了测试。结果分析表明,需要对CFDNA的提取方法进行优化,并对检测系统进行改进,以提高方法的有效性。
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引用次数: 0
期刊
Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
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