leptomeningeal spread

  • 文章类型: Case Reports
    小脑髓母细胞瘤(MB)是儿童常见的脑肿瘤。MB通常通过脑脊液传播;然而,有几例颅外扩散的报道。颅外转移最常见的部位是骨骼和骨髓,其次是腹膜。肝脏,还有肺.这里,我们报道了1例成人小脑MB的肺转移性病变,该病变是在初次手术治疗1年后发现的。我们还试图在文献中强调类似的报道病例。
    Medulloblastoma (MB) cerebelli is a common brain tumor of the childhood. MB commonly spreads through cerebrospinal fluid; however, there are several reported cases of extracranial spread. The most common sites of extracranial metastasis are bones and bone marrow followed by peritoneum, liver, and lungs. Here, we report a case of pulmonary metastatic lesions of adult cerebellar MB that were discovered 1 year after the primary surgical treatment. We also tried to highlight similar reported cases in the literature.
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  • 文章类型: Journal Article
    髓母细胞瘤包括一组分子多样性的恶性小儿脑肿瘤,其中根据从非常好到非常差的不同预后风险组对患者进行分层。诊断时的转移通常是预后不良的标志,这些儿童的复发率更高。髓母细胞瘤复发几乎总是致命的,并且细胞复发,除了对护理标准的抵制,与休眠状态增加相关的获得性遗传和表观遗传变化,细胞状态重编程和免疫逃逸。这里,我们回顾了在临床前模型中仔细研究转移和复发的方法,根据最近描述的分子亚组。我们将举例说明治疗抗性如何在细胞水平上发展,在特定的生态位或治疗诱导的次级突变。我们进一步描述了肿瘤如何获得促进软脑膜播散的能力的潜在分子机制,并讨论了它们如何建立治疗抗性细胞克隆。最后,我们描述了一些正在进行的高危髓母细胞瘤的临床试验,并建议或讨论了可能对特定亚组有益的更个体化治疗.
    Medulloblastomas comprise a molecularly diverse set of malignant pediatric brain tumors in which patients are stratified according to different prognostic risk groups that span from very good to very poor. Metastasis at diagnosis is most often a marker of poor prognosis and the relapse incidence is higher in these children. Medulloblastoma relapse is almost always fatal and recurring cells have, apart from resistance to standard of care, acquired genetic and epigenetic changes that correlate with an increased dormancy state, cell state reprogramming and immune escape. Here, we review means to carefully study metastasis and relapse in preclinical models, in light of recently described molecular subgroups. We will exemplify how therapy resistance develops at the cellular level, in a specific niche or from therapy-induced secondary mutations. We further describe underlying molecular mechanisms on how tumors acquire the ability to promote leptomeningeal dissemination and discuss how they can establish therapy-resistant cell clones. Finally, we describe some of the ongoing clinical trials of high-risk medulloblastoma and suggest or discuss more individualized treatments that could be of benefit to specific subgroups.
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  • 文章类型: Journal Article
    目的:本研究旨在确定与高级别胶质瘤(HGG)患者软脑膜扩散(LMS)后生存相关的预后因素,并阐明其行为和治疗反应。
    方法:这项回顾性研究包括2014年8月1日至2021年7月30日在我们机构诊断为LMS的114例HGG患者。临床,放射学,病态,并收集结果数据。单变量和多变量Cox回归用于总生存期(OS)和LMS后生存期(PLS)分析。
    结果:中位OS为17.0个月,中位PLS为6.0个月。LMS诊断后的大体全切除(GTR)和病理III级与所有患者的OS延长有统计学意义。LMS诊断后的GTR和结节性LMS是PLS的独立有利预后因素。LMS诊断后的非辅助治疗与较短的OS和PLS相关。在胶质母细胞瘤(GBM)亚组分析中,LMS诊断后的GTR和继发性LMS是OS的独立有利预后因素。在LMS诊断时,Karnofsky表现状态(KPS)≥80,LMS和鞘内注射甲氨蝶呤(MTX)治疗后的化疗与较长的PLS有统计学显著相关.II型MRI是较短PLS的预测因子。
    结论:诊断为LMS后的胶质瘤患者的治疗非常具有挑战性和局限性。LMS后肿瘤的安全GTR和后续辅助治疗仍然是提高LMS患者生存率的有力武器。化疗和鞘内注射MTX治疗是LMS后可行的治疗方法。肿瘤播散的程度可能影响LMS后的生存率。
    OBJECTIVE: This study aimed to identify prognostic factors associated with survival in patients with high-grade glioma (HGG) after leptomeningeal spread (LMS) and to clarify the behavior and treatment response.
    METHODS: This retrospective study included 114 patients with HGGs diagnosed with LMS from August 1, 2014, to July 30, 2021, at our institution. Clinical, radiological, pathological, and outcome data were collected. Univariable and multivariable Cox regression were used for overall survival (OS) and post-LMS survival (PLS) analysis.
    RESULTS: The median OS was 17.0 months and the median PLS was 6.0 months. Gross total resection (GTR) after LMS diagnosis and pathology grade III were statistically significantly associated with longer OS in all patients. GTR after LMS diagnosis and nodular LMS were independent favorable prognostic factors on PLS. Non-adjuvant therapy after LMS diagnosis was associated with shorter OS and PLS. In glioblastoma (GBM) subgroup analysis, GTR after LMS diagnosis and secondary LMS were independent favorable prognostic factors on OS. Karnofsky Performance Status (KPS) of ≥80 at LMS diagnosis, chemotherapy after LMS and intrathecal methotrexate (MTX) treatment were statistically significantly associated with longer PLS. MRI type II was a predictor of shorter PLS.
    CONCLUSIONS: The treatment of patients with glioma after LMS diagnosis is very challenging and limited. Safe GTR of tumor and subsequent adjuvant therapy after LMS remains a powerful weapon to improve survival for HGG patients with LMS. Chemotherapy and Intrathecal MTX treatment are feasible treatments after LMS. The extent of tumor dissemination may affect the survival after LMS.
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  • 文章类型: Journal Article
    背景:胶质母细胞瘤(GBM)是最常见的原发性脑肿瘤,患者预后较差。脊髓软脑膜转移很少有报道,在最初发现大脑中的原发性肿瘤和最终的脊柱转移之间有很长的间隔。
    方法:这里,作者介绍了一名51岁的男性,患有7天的严重头痛,恶心,和呕吐。大脑和脊柱的磁共振成像显示松果体区域的对比增强肿块,以及T8,T12和L5的脊髓转移。最初的冰冻切片诊断导致了髓母细胞瘤的治疗策略,但进一步的分子分析揭示了异柠檬酸脱氢酶野生型的特征,4级GBM。
    结论:胶质母细胞瘤在诊断时具有转移扩散的潜力。临床怀疑软脑膜扩散的患者应考虑脊柱影像学检查。此外,应在病理诊断后确认分子分析以微调治疗策略.
    BACKGROUND: Glioblastoma (GBM) is the most common primary brain tumor with poor patient prognosis. Spinal leptomeningeal metastasis has been rarely reported, with long intervals between the initial discovery of the primary tumor in the brain and eventual spine metastasis.
    METHODS: Here, the authors present the case of a 51-year-old male presenting with 7 days of severe headache, nausea, and vomiting. Magnetic resonance imaging of the brain and spine demonstrated a contrast-enhancing mass in the pineal region, along with spinal metastases to T8, T12, and L5. Initial frozen-section diagnosis led to the treatment strategy for medulloblastoma, but further molecular analysis revealed characteristics of isocitrate dehydrogenase-wild type, grade 4 GBM.
    CONCLUSIONS: Glioblastoma has the potential to show metastatic spread at the time of diagnosis. Spinal imaging should be considered in patients with clinical suspicion of leptomeningeal spread. Furthermore, molecular analysis should be confirmed following pathological diagnosis to fine-tune treatment strategies.
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  • 文章类型: Case Reports
    霍奇金淋巴瘤(HL)的颅内受累极为罕见,尤其是在诊断的时候。由于其非特定的放射行为,它可能会与预后截然不同的更常见实体相混淆。病理上,大的双核细胞,叫做Reed-Sternberg细胞,嵌入炎症网络中。在这份报告中,我们描述了一名患者的临床病例,没有病史,以左眼疼痛和眼球突出作为颅内HL诊断的预设,并回顾最新文献。颅内受累通常与颅外疾病有关。因此,包括身体计算机断层扫描在内的系统研究,骨髓活检和眼科评估是必要的。颅内病变对治疗反应良好,预后取决于颅外受累。迄今为止,这些患者没有标准化的管理方案。对我们来说,在这种情况下,手术的主要作用是进行活检以确认组织学诊断。
    Intracranial involvement in Hodgkin\'s Lymphoma (HL) is extremely unusual, especially at the time of diagnosis. Because of its non-specific radiological behaviour, it can be confused with more common entities with a radically different prognosis. Pathologically, large and bi-nucleated cells, called Reed-Sternberg cells, embedded in an inflammatory network. In this report we describe the clinical case of a patient, with no medical history, with left ocular pain and exophthalmos as presetation of intracranial HL at diagnosis and review the most current literature. Intracranial involvement is often associated with extracranial disease. Therefore, a systemic study including body computed tomography, bone marrow biopsy and ophthalmological evaluation is necessary. Intracranial lesions respond favourably to treatment and the prognosis depends on the extracranial involvement. To date, there is no standardised management scheme for these patients. For us, the primary role of surgery in this context is to perform a biopsy to confirm the histological diagnosis.
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  • 文章类型: Case Reports
    真性神经母细胞瘤(ENB),也被称为嗅觉神经母细胞瘤,是一种罕见的神经外胚层起源的恶性肿瘤,起源于嗅觉上皮。我们介绍了ENB通过软脑膜途径转移到脊髓硬膜的情况,采用射波刀(CK)立体定向放射外科(SRS)治疗,并旨在评估SRS在这种情况下的安全性和有效性。据我们所知,这是文献中首例讨论使用CK放射外科治疗ENB脊髓软脑膜转移的病例报告.我们回顾性回顾了一名70岁的ENB脊柱转移女性的临床和放射学结果。无进展生存期(PFS),总生存期(OS),和局部肿瘤控制(LTC)进行调查。在我们的病人身上,ENB在58岁时被诊断出,脊柱转移在65岁时首次被发现。共有6个脊柱病变接受了CKSRS。病变存在于C1、C2、C3、C6-C7、T5和T10-11的水平。中值靶体积为0.72cc(范围:0.32-2.54)。将24Gy的中值边缘剂量递送至肿瘤,其中三个分数的中值至80%的中值等剂量线(范围:78-81)。24个月随访时的LTC为100%。PFS和OS分别为27个月和40个月,分别。没有不良辐射影响的报告。即使治疗的脊柱病变保持稳定,随着宫颈内进行性骨性和硬脑膜转移性病变的增加,新的转移性病变的数量增加,胸廓,最后一次随访时的腰椎。SRS为ENB转移到脊柱的患者提供了相对良好的LTC,没有辐射引起的不良事件。
    Esthesioneuroblastoma (ENB), also known as olfactory neuroblastoma, is a rare malignant tumor of neuroectodermal origin that arises from the olfactory epithelium. We present a case of ENB metastasizing through the leptomeningeal route to the spinal dura, which was treated with CyberKnife (CK) stereotactic radiosurgery (SRS), and aim to assess the safety and effectiveness of SRS in such cases. To the best of our knowledge, this is the first case report in the literature that discusses ENB spinal leptomeningeal metastases treated with CK radiosurgery. We retrospectively review the clinical and radiological outcomes in a 70-year-old female with ENB metastasis to the spine. Progression-free survival (PFS), overall survival (OS), and local tumor control (LTC) are investigated. In our patient, ENB had been diagnosed at the age of 58 years and spinal metastases had been first noted at the age of 65 years. A total of six spinal lesions received CK SRS. Lesions were present at the level of C1, C2, C3, C6-C7, T5, and T10-11. The median target volume was 0.72 cc (range: 0.32-2.54). A median marginal dose of 24 Gy was delivered to the tumors with a median of three fractions to a median isodose line of 80% (range: 78-81). LTC at the 24-month follow-up was 100%. PFS and OS were 27 months and 40 months, respectively. No adverse radiation effects were reported. Even though the treated spinal lesions remained stable, the number of new metastatic lesions had increased with progressive osseous and dural metastatic lesions within the cervical, thoracic, and lumbar spine at the last follow-up. SRS provides relatively good LTC for patients with ENB metastasizing to the spine, with no radiation-induced adverse events.
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  • 文章类型: Case Reports
    我们提供了一份最新的病例报告,该病例报告涉及一名分离于松果体的胶质母细胞瘤患者,其总生存期超过五年,并且自最初出现以来没有出现局灶性中枢神经系统(CNS)缺陷的进展。患者接受了高达60Gy的放疗,同时使用包括心室系统在内的非标准治疗量并辅以替莫唑胺。在疾病复发时利用心室照射以及添加贝伐单抗可能通过预防/延迟软脑膜扩散来促进这种异常长的生存期。我们还介绍了最新的文献综述,显示了六个月的中位生存期,加强患者非典型疾病的发展轨迹。最后,我们利用OpenAI的语言模型ChatGPT来帮助合成这篇手稿。在这样做的时候,我们证明了ChatGPT易于创建相关文献和主题的简明摘要,然而,它的输出经常重复类似的句子/段落结构,不理想的语法和差的语法需要编辑。因此,在其当前迭代中,ChatGPT是一种有用的辅助工具,可以减少数据采集和处理所花费的时间,但不能替代人类在创建高质量医学文献方面的投入。
    We present an updated case report of a patient with glioblastoma isolated to the pineal gland with an overall survival greater than five years and no progression of focal central nervous system (CNS) deficits since initial presentation. The patient underwent radiotherapy up to 60 Gy with concurrent and adjuvant temozolomide with the use of non-standard treatment volumes that included the ventricular system. The utilization of ventricular irradiation as well as the addition of bevacizumab at disease recurrence may have encouraged this unusually long survival by preventing/delaying leptomeningeal spread. We also present an updated review of the literature, which shows a median survival of six months, reinforcing the patients atypical disease trajectory. Finally, we utilize OpenAI\'s language model ChatGPT to aid in synthesizing this manuscript. In doing so, we demonstrate that ChatGPT is apt at creating concise summaries of relevant literature and topic subjects, however its output is often repetitive with similar sentence/paragraph structure, less than ideal grammar and poor syntax requiring editing. Thus, in its current iteration, ChatGPT is a helpful aid that cuts down on the time spent in data acquisition and processing but is not a replacement for human input in the creation of quality medical literature.
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  • 文章类型: Case Reports
    硬脊膜动静脉瘘(SDAVF)是最常见的特发性起源,但偶尔可能是继发于手术。创伤,或炎症。我们报告了一例27岁的男性,患有脊髓病。发现他的SDAVF与先前治疗过的高级别脑胶质瘤的软脑膜扩散(LMS)有关。胶质瘤的出血性表现,在这种情况下,是由于血管内皮生长因子的上调,这也被假定在SDAVF的发展中发挥作用。这可能表明诱导与此类肿瘤相关的继发性SDAVF的可能机制。虽然先前已经报道了颅内肿瘤与血管畸形的共存,这是首例与SDAVF相关的高级别神经胶质瘤的LMS报告.
    Spinal dural arteriovenous fistulae (SDAVF) are most commonly idiopathic in origin but may occasionally be seen secondary to surgery, trauma, or inflammation. We report a case of 27-year-old male who came with features of a myelopathy. He was found to have an SDAVF associated with leptomeningeal spread (LMS) of a previously treated high-grade cerebral glioma. Hemorrhagic presentation of gliomas, as in this case, is due to upregulation of vascular endothelial growth factor, which has also been postulated to play a role in the development of SDAVFs. This may suggest a possible mechanism of induction of secondary SDAVFs associated with such tumors. While the coexistence of intracranial neoplasms with vascular malformations has been reported previously, this is the first case report of LMS of a high-grade glioma associated with an SDAVF.
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  • 文章类型: Case Reports
    大约三分之二的胶质母细胞瘤(GBM)患者在两年内发展为软脑膜扩散(LMS)。虽然90%的LMS病例是在GBM进展和/或复发期间诊断的(定义为继发性LMS),GBM诊断时的LMS表现(定义为原发性LMS)非常罕见。18F-氟代脱氧葡萄糖正电子发射断层扫描(18F-FDGPET/CT)研究有助于诊断恶性原发性脑肿瘤的多灶性扩散。我们的病人是一名31岁的男性,他的肿瘤位于右颞叶,广泛的软脑膜,脊髓(胸5/6和腰1级)受累为并发表现。切除右颞叶肿瘤后,临床状况进展迅速,显示LMS引起的颅内压升高和脑积水的迹象。开颅手术一周后,他接受了脑室腹膜分流术。在管理期间,脊髓压迫的进展,截瘫,与放化疗有关的骨髓抑制,并发感染,观察到由于LMS通过分流系统的腹膜转移而引起的持续性腹水。在同时诊断为GBM和LMS的九个月后,患者最终死于疾病。在我们的病例中,原发性LMS伴GBM的总生存期为9个月,比带有GBM的二级LMS短。LMS诊断后的生存期在原发性和继发性LMS之间似乎没有显着差异。为了确定原发性和继发性LMS的预后效果和差异,需要进一步的合作研究和大量数据分析.
    Approximately two-thirds of glioblastoma (GBM) patients progress to leptomeningeal spread (LMS) within two years. While 90% of LMS cases are diagnosed during the progression and/or recurrence of GBM (defined as secondary LMS), LMS presentation at the time of GBM diagnosis (defined as primary LMS) is very rare. 18F-fluorodeoxy glucose positron emission tomography computed tomography (18F-FDG PET/CT) study helps to diagnose the multifocal spread of the malignant primary brain tumor. Our patient was a 31-year-old man with a tumorous lesion located in the right temporal lobe, a wide area of the leptomeninges, and spinal cord (thoracic 5/6, and lumbar 1 level) involvement as a concurrent manifestation. After the removal of the right temporal tumor, the clinical status progressed rapidly, showing signs of increased intracranial pressure and hydrocephalus caused by LMS. He underwent a ventriculoperitoneal shunt a week after craniotomy. During management, progression of cord compression, paraplegia, bone marrow suppression related to radiochemotherapy, intercurrent infections, and persistent ascites due to peritoneal metastasis of the LMS through the shunt system was observed. The patient finally succumbed to the disease nine months after the diagnosis of simultaneous GBM and LMS. The overall survival of primary LMS with GBM in our case was nine months, which is shorter than that of secondary LMS with GBM. The survival period after the diagnosis of LMS did not seem to be significantly different between primary and secondary LMS. To determine the prognostic effect and difference between primary and secondary LMS, further cooperative studies with large-volume data analysis are warranted.
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  • 文章类型: Case Reports
    2016年,世界卫生组织肿瘤分类(WHO)更新为弥漫性软脑膜神经胶质瘤(DLGNT),作为混合神经元和神经胶质肿瘤的临时单位。这里,我们报告了已通过更新的WHO分类重新诊断的DLGNT,具有临床特征,成像,和组织病理学发现和9年的随访。一个16岁的女孩出现头痛,呕吐,和眩晕.磁共振成像(MRI)显示右侧小脑桥脑角和内耳道有高强度肿块,并有异质性增强。没有看到软脑膜受累。组织学检查显示,肿瘤组织的中等细胞性主要由少突胶质细胞样细胞形成。后续的MRI扫描显示大脑蛛网膜下腔的囊性病变具有生动的软脑膜增强。后来在椎管中发现了肿瘤的扩散。按需重新检查活检样本,病理诊断为DLGNT。与大多数报道的DLGNT相比,本手稿中描述的肿瘤没有出现弥漫性软脑膜扩散,但后来出现了脑和脊髓的软脑膜受累。我们的案例扩展了放射学特征的范围,提供长期的临床和放射学随访,并强调了分子基因检测在不寻常病例中的主要作用。
    In 2016, the World Health Organisation Classification (WHO) of Tumours was updated with diffuse leptomeningeal glioneuronal tumour (DLGNT) as a provisional unit of mixed neuronal and glial tumours. Here, we report a DLGNT that has been re-diagnosed with the updated WHO classification, with clinical features, imaging, and histopathological findings and a 9-year follow-up. A 16-year-old girl presented with headache, vomiting, and vertigo. Magnetic resonance imaging (MRI) demonstrated a hyperintense mass with heterogenous enhancement in the right cerebellopontine angle and internal auditory canal. No leptomeningeal involvement was seen. The histological examination revealed neoplastic tissue of moderate cellularity formed mostly by oligodendrocyte-like cells. Follow-up MRI scans demonstrated cystic lesions in the subarachnoid spaces in the brain with vivid leptomeningeal enhancement. Later spread of the tumour was found in the spinal canal. On demand biopsy samples were re-examined, and pathological diagnosis was identified as DLGNT. In contrast to most reported DLGNTs, the tumour described in this manuscript did not present with diffuse leptomeningeal spread, but later presented with leptomeningeal involvement in the brain and spinal cord. Our case expands the spectrum of radiological features, provides a long-term clinical and radiological follow-up, and highlights the major role of molecular genetic testing in unusual cases.
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