Ewing’s Sarcoma

尤因肉瘤
  • 文章类型: Case Reports
    胸壁重建带来了重大挑战。这些挑战之一是选择正确的重建材料。关于使用假体材料与自体组织以及刚性与非刚性材料存在争议。本文展示了阔筋膜在儿童胸壁重建中的新颖用途。
    Chest wall reconstruction poses significant challenges. One of those challenges is choosing the correct material for reconstruction. There is debate on using prosthetic materials versus autologous tissues and rigid versus nonrigid materials. This article showcases the novel use of fascia lata for chest wall reconstruction in children.
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  • 文章类型: Case Reports
    原始神经外胚层肿瘤(PNETs)很少见,由原始神经细胞引起的恶性肿瘤。胸壁的PNET很少见,在儿童和年轻人中观察到。Askin将Askin的肿瘤定义为胸肺区域的PNET。它从胸壁的软组织发展而来,特别是在椎旁区域。这里,我们报告一例Askin肿瘤,发生在一名13岁女孩胸肺区域的罕见肿瘤。她带着发烧的抱怨来了,冷,咳嗽伴有粘液痰,15天气喘吁吁,和三个月的全身无力。还进行了高分辨率计算机断层扫描(HRCT)胸部扫描,提示右侧胸膜基肿块伴椎体转移。通过包括影像学研究和组织病理学检查的勤奋诊断评估,肿瘤被准确识别。
    Primitive neuroectodermal tumours (PNETs) are rare, malignant tumours arising from primitive nerve cells. PNET of the chest wall is rare and is observed in children and young adults. Askin defined Askin\'s tumour as a PNET of the thoracopulmonary area. It develops from the soft tissues of the chest wall, particularly in the paravertebral region. Here, we report a case of Askin\'s tumour, a rare neoplasm occurring in the thoracopulmonary region in a 13-year-old girl. She came with complaints of fever, cold, cough with mucoid expectoration, breathlessness for 15 days, and generalized weakness for three months. A high-resolution computed tomography (HRCT) thorax scan was also done, which suggested a large right pleural-based mass with vertebral metastasis. Through diligent diagnostic evaluation involving imaging studies and histopathological examination, the tumour was accurately identified.
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  • 文章类型: Case Reports
    背景:尤因肉瘤是主要在儿童和青少年中观察到的原发性骨肿瘤,需要多学科治疗方法。虽然局部病例的5年生存率为60-70%,盆腔晚期转移患者的预后明显较差。此外,骨盆尤因肉瘤具有导致术后感染率高的独特问题。
    方法:我们介绍了一个日本14岁男孩,患有左髂尤因肉瘤和多发转移的病例。在初次访问时,影像学检查显示,左髂骨有一个大肿瘤,骨外延伸并转移到多个部位。新辅助化疗导致肿瘤显著减少。在不进行骨盆环重建的情况下进行了手术切除,以使术后早期化疗并最大程度地减少术后感染风险。尽管外展肌完全切除,患者通过使负载轴居中,实现了术后稳定的步态。
    结论:我们的病例强调了左髂尤因肉瘤伴多发转移的成功治疗,专注于功能保存和降低感染风险。未进行骨盆环重建术以避免术后并发症,强调术后早期化疗的重要性。患者术后步态稳定,证明了这种方法在类似情况下的潜在好处。
    BACKGROUND: Ewing\'s sarcoma is a primary bone tumor predominantly observed in children and adolescents, necessitating a multidisciplinary treatment approach. While localized cases have a 5-year survival rate of 60-70%, the prognosis is significantly worse in pelvic advanced cases with metastasis. Moreover, pelvic Ewing\'s sarcoma has the unique problem of leading to high rates of postoperative infection.
    METHODS: We present the case of a Japanese 14-year-old boy with left iliac Ewing\'s sarcoma and multiple metastases. At the initial visit, imaging revealed a large tumor in the left iliac bone with extraosseous extension and metastasis to multiple sites. Neoadjuvant chemotherapy resulted in significant tumor reduction. Surgical resection was performed without pelvic ring reconstruction to enable early postoperative chemotherapy and minimize postoperative infection risk. Despite complete abductor muscle removal, the patient achieved a stable gait postoperatively by centering the load axis.
    CONCLUSIONS: Our case highlights the successful management of a left iliac Ewing\'s sarcoma with multiple metastases, with a focus on functional preservation and infection risk reduction. Pelvic ring reconstruction was not performed to avoid postoperative complications, emphasizing the importance of early postoperative chemotherapy. The patient achieved a stable gait postoperatively, demonstrating the potential benefits of this approach in similar cases.
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  • 文章类型: Journal Article
    角化是铜诱导的细胞死亡。铜代谢相关基因(CMRGs)被证明可用于评估肿瘤的预后。在研究中,检测CMRG对尤文氏肉瘤(ES)中TME细胞浸润的影响。
    GEO和ICGC数据库提供了mRNA表达谱和临床特征以供下载。在GSE17674数据集中,通过单变量回归分析鉴定了22个预后相关的铜代谢相关基因(PR-CMRGs)。随后,为了比较这些PR-CMRGs高表达和低表达组的生存率,实施Kaplan-Meier分析。此外,检查了它们之间的相关性。该研究采用功能富集分析来调查可能的潜在途径,而GSVA用于评估ES(表达集)中的富集途径。通过无监督聚类算法,样本被分为两个集群,揭示了存活率和免疫浸润水平的显著差异。
    使用Lasso和逐步回归方法,五个基因(TFRC,SORD,选择SLC11A2、FKBP4和AANAT)作为风险特征。根据Kaplan-Meier生存分析,高危组的生存率明显低于低危组(p=6.013e-09).受试者工作特征(ROC)曲线的曲线下面积(AUC)值分别为1年、3年和5年的0.876、0.883和0.979,分别。在其他数据集中进一步验证了风险模型,即GSE63155、GSE63156和ICGC数据集。为了帮助预测结果,建立了纳入风险水平和临床特征的列线图.此列线图的性能通过校准曲线得到有效验证。此外,该研究评估了不同风险组之间免疫浸润的差异,以及高表达和低表达组。重要的是,确定了几种显示敏感性的药物,为ES提供潜在的治疗选择。
    上述发现强烈表明,CMRGs在预测ES的预后和免疫状态中起着至关重要的作用。
    UNASSIGNED: Cuproptosis is copper-induced cell death. Copper metabolism related genes (CMRGs) were demonstrated that used to assess the prognosis out of tumors. In the study, CMRGs were tested for their effect on TME cell infiltration in Ewing\'s sarcoma (ES).
    UNASSIGNED: The GEO and ICGC databases provided the mRNA expression profiles and clinical features for downloading. In the GSE17674 dataset, 22prognostic-related copper metabolism related genes (PR-CMRGs) was identified by using univariate regression analysis. Subsequently, in order to compare the survival rates of groups with high and low expression of these PR-CMRGs,Kaplan-Meier analysis was implemented. Additionally, correlations among them were examined. The study employed functional enrichment analysis to investigate probable underlying pathways, while GSVA was applied to evaluate enriched pathways in the ES (Expression Set). Through an unsupervised clustering algorithm, samples were classified into two clusters, revealing significant differences in survival rates and levels of immune infiltration.
    UNASSIGNED: Using Lasso and step regression methods, five genes (TFRC, SORD, SLC11A2, FKBP4, and AANAT) were selected as risk signatures. According to the Kaplan-Meier survival analysis, the high-risk group had considerably lower survival rates than the low-risk group(p=6.013e-09). The area under the curve (AUC) values for the receiver operating characteristic (ROC) curve were 0.876, 0.883, and 0.979 for 1, 3, and 5 years, respectively. The risk model was further validated in additional datasets, namely GSE63155, GSE63156, and the ICGC datasets. To aid in outcome prediction, a nomogram was developed that incorporated risk levels and clinical features. This nomogram\'s performance was effectively validated through calibration curves.Additionally, the study evaluated the variations in immune infiltration across different risk groups, as well as high-expression and low-expression groups. Importantly, several drugs were identified that displayed sensitivity, offering potential therapeutic options for ES.
    UNASSIGNED: The findings above strongly indicate that CMRGs play crucial roles in predicting prognosis and immune status in ES.
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  • 文章类型: Journal Article
    尤因肉瘤(EWS)是一种高度侵袭性的恶性骨肿瘤,主要影响青少年和年轻人。尽管在某些情况下放化疗有效,转移性和复发性疾病患者的治愈率仍然很低。因此,迫切需要创新的治疗方法来应对与EWS治疗相关的挑战.表观遗传调控,生理过程中的一个关键因素,在控制细胞增殖中起着重要作用,保持基因完整性,和调节转录。最近的研究强调了异常表观遗传调控在EWS的启动和进展中的重要性。全面了解EWS与异常表观遗传调控之间的复杂相互作用对于推进临床药物开发至关重要。这篇综述旨在全面概述EWS中涉及的两个表观遗传靶标,整合各种治疗方式,为EWS的临床诊断和治疗提供创新的观点。
    Ewing\'s sarcoma (EWS) is a highly aggressive malignant bone tumor primarily affecting adolescents and young adults. Despite the efficacy of chemoradiotherapy in some cases, the cure rate for patients with metastatic and recurrent disease remains low. Therefore, there is an urgent need for innovative therapeutic approaches to address the challenges associated with EWS treatment. Epigenetic regulation, a crucial factor in physiological processes, plays a significant role in controlling cell proliferation, maintaining gene integrity, and regulating transcription. Recent studies highlight the importance of abnormal epigenetic regulation in the initiation and progression of EWS. A comprehensive understanding of the intricate interactions between EWS and aberrant epigenetic regulation is essential for advancing clinical drug development. This review aims to provide a comprehensive overview of both epigenetic targets implicated in EWS, integrating various therapeutic modalities to offer innovative perspectives for the clinical diagnosis and treatment of EWS.
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  • 文章类型: Journal Article
    目的:冷物理血浆(CPP)通过在各种癌细胞中诱导细胞毒性作用,已成为肿瘤学中的有效疗法,包括软骨肉瘤(CS),尤因肉瘤(ES),骨肉瘤(OS)。当前的研究调查了CPP对CS(CAL-78)中细胞运动的影响,ES(A673),和OS(U2-OS)细胞系,专注于肌动蛋白细胞骨架。
    方法:使用CASY细胞计数器和分析仪研究细胞增殖,并确定胎牛血清的最佳浓度,以维持活力而不刺激细胞增殖。CellTiter-BlueCell活力测定用于确定CPP对骨肉瘤细胞活力的影响。使用Radius测定来确定细胞迁移。脱氧核糖核酸酶Ⅰ染色,G-肌动蛋白,和F-肌动蛋白用于测定对细胞骨架的影响。
    结果:在CPP处理后,在所有细胞系中观察到细胞活力和运动性的降低。CPP诱导肌动蛋白细胞骨架的变化,导致细胞运动性下降。
    结论:CPP通过改变肌动蛋白细胞骨架有效降低骨肉瘤细胞的运动性。这些发现强调了CPP作为骨肉瘤治疗工具的潜力,并强调了该领域进一步研究的必要性。
    OBJECTIVE: Cold physical plasma (CPP) has emerged as an effective therapy in oncology by inducing cytotoxic effects in various cancer cells, including chondrosarcoma (CS), Ewing\'s sarcoma (ES), and osteosarcoma (OS). The current study investigated the impact of CPP on cell motility in CS (CAL-78), ES (A673), and OS (U2-OS) cell lines, focusing on the actin cytoskeleton.
    METHODS: The CASY Cell Counter and Analyzer was used to study cell proliferation and determine the optimal concentrations of fetal calf serum to maintain viability without stimulation of cell proliferation. CellTiter-BlueCell viability assay was used to determine the effects of CPP on the viability of bone sarcoma cells. The Radius assay was used to determine cell migration. Staining for Deoxyribonuclease I, G-actin, and F-actin was used to assay for the effects on the cytoskeleton.
    RESULTS: Reductions in cell viability and motility were observed across all cell lines following CPP treatment. CPP induced changes in the actin cytoskeleton, leading to decreased cell motility.
    CONCLUSIONS: CPP effectively reduces the motility of bone sarcoma cells by altering the actin cytoskeleton. These findings underscore CPP\'s potential as a therapeutic tool for bone sarcomas and highlight the need for further research in this area.
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  • 文章类型: Case Reports
    尤因肉瘤是儿童时期的小圆形蓝色细胞肿瘤之一,通常会影响骨骼。最近,未分化的圆形细胞肉瘤的一个亚组已被遗传鉴定为BCOR(B细胞系6辅抑制因子)改变的肉瘤(BAS)。我们介绍了一例6岁的男性儿童,该儿童以呼吸急促和呼吸急促为主要主诉,并被发现有与肉瘤有关的纵隔肿块。初步活检结果为小圆形蓝色细胞阳性,可能是尤因肉瘤.经过六个周期的化疗,纵隔肿块随后收缩,患者能够进行楔形切除和切除肿块,同时整块切除第五和第六肋骨,保护他的右肺.最终组织病理为BAS阳性。仅有4例报告的胸壁BAS病例和零例报告的肺原发肿瘤表现病例,使这成为这种疾病的罕见表现。
    Ewing sarcoma is one of the small round blue cell tumors of childhood that typically affects bone. Recently, a subgroup of undifferentiated round-cell sarcomas has been genetically identified as BCOR (B-cell Line 6 Corepressor)-altered sarcomas (BAS). We present a case of a six-year-old male child who presented with a chief complaint of shortness of breath and tachypnea and was found to have a large mediastinal mass concerning sarcoma. Preliminary biopsy results were positive for small round blue cells, possibly Ewing sarcoma. After six cycles of chemotherapy, with subsequent shrinkage of mediastinal mass, the patient was able to undergo wedge resection and excision of the mass with en bloc resection of the fifth and sixth rib, preserving his right lung. Final tissue pathology was positive for BAS. There have been only four reported cases of BAS of the chest wall and zero reported cases of primary tumor presentation of the lung, making this a rare presentation of the disease.
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  • 文章类型: Journal Article
    鼻窦道中最具挑战性的诊断类别之一包括小蓝色圆形细胞肿瘤。这些是恶性肿瘤,显示出许多重叠的组织形态学和免疫组织化学(IHC)发现。有限,这些未完全切除的肿瘤的小活检增加了诊断混乱。
    在一家三级保健机构进行了为期2年(2018年1月至2020年12月)的横断面研究,其中包括70例肿瘤,其中49例为恶性肿瘤。对所有石蜡包埋的块进行苏木精和曙红染色和IHC,然后在需要时进行分子研究。
    在所有案件中,小蓝圆细胞肿瘤构成主要类别,包括20例罕见和有趣的病例,其中包括鼻窦未分化癌(4例),恶性淋巴瘤(2例弥漫性大B细胞淋巴瘤和2例结外自然杀伤/T细胞淋巴瘤),横纹肌肉瘤(2例),嗅神经母细胞瘤(2例),恶性黑色素瘤(2例),浆细胞瘤(2例),非典型尤因肉瘤(EWS)(1例),EWS(1例),睾丸核蛋白(NUT)癌(1例),小细胞神经内分泌癌1例。
    鼻窦肿瘤种类繁多,在存在未分化形态的小圆细胞肿瘤中更是如此。因此,准确的诊断需要临床放射学参数和特殊的辅助技术,如IHC和分子研究,以及早期诊断和治疗的组织病理学,以防止这些肿瘤的显著发病率和死亡率.
    UNASSIGNED: One of the most challenging diagnostic categories in the sinonasal tract includes small-blue-round-cell tumors. These are malignant tumors which show many overlapping histomorphology and immunohistochemistry (IHC) findings. Limited, small biopsy of these not completely excisable tumors adds to the diagnostic confusion.
    UNASSIGNED: A cross-sectional study was done for 2 years (January 2018-December 2020) in a tertiary care institute, which included 70 cases of tumors of which 49 cases were malignant. All paraffin-embedded blocks were subjected to hematoxylin and eosin stain and IHC followed by molecular study wherever needed.
    UNASSIGNED: Of the total cases, small-blue-round-cell tumor constituted the major category comprising 20 rare and interesting cases which included sinonasal undifferentiated carcinoma (4 cases), malignant lymphoma (2 cases of diffuse large B-cell lymphoma and 2 cases of extranodal natural killer/T-cell lymphoma), rhabdomyosarcoma (2 cases), olfactory neuroblastoma (2 cases), malignant melanoma (2 cases), plasmacytoma (2 cases), atypical Ewing\'s sarcoma (EWS) (1 case), EWS (1 case), nuclear protein in testis (NUT) carcinoma (1 case), and small-cell neuroendocrine carcinoma (1 case).
    UNASSIGNED: Tumors of the sinonasal tract are very diverse, more so in small-round-cell tumor which present with a undifferentiated morphology. Thus, accurate diagnosis needs clinicoradiological parameters and special ancillary techniques such as IHC and molecular study in addition to histopathology for early diagnosis and therapy to prevent significant morbidity and mortality caused in these tumors.
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  • 文章类型: Journal Article
    该研究旨在利用细胞形态学特征和辅助技术对起源于身体各个部位的恶性小圆细胞肿瘤(MSRCT)进行分类。
    它是一项横断面研究,历时3年(2017-2020年)。采用细针穿刺细胞学(FNAC)对33例肿瘤进行圆形细胞形态评估。
    应用免疫组织化学支持的细胞块制备辅助分类23例明确诊断,其余为MSRCT。
    在23/33分类病例中,最常见的诊断是尤因肉瘤(7/23),其次是淋巴瘤6例。横纹肌肉瘤和朗格汉斯细胞组织细胞增生症(LCH)各2例,神经母细胞瘤各1例,促纤维增生性小圆细胞瘤(DSRCT),骨髓肉瘤,胰腺神经内分泌肿瘤,浆细胞瘤,和小细胞癌。24/33例有组织病理学证实。在分类的肿瘤中(23/33),19例活检相关性可用,其中17例(89.47%)结果一致,其中6例淋巴瘤,尤因肉瘤(EWS)5例,2例横纹肌肉瘤,和1个神经母细胞瘤,小细胞癌,DSRCT,和LCH。在细胞学中,在1例横纹肌肉瘤和1例滑膜肉瘤中发现了不一致的结果。在报告为MSRTC的未分类病例中,5例诊断为横纹肌肉瘤(1例),淋巴瘤(1例),无色素性黑色素瘤(1例),和骨外EWS(2例)。
    应进行MSRCT分类以实施适当的治疗方案。FNAC提供了快速诊断,为患者的及时管理做出了巨大贡献。详细的细胞形态学评估可作为辅助技术进一步评估的指南,从而导致明确的诊断。
    UNASSIGNED: The study aims to categorize malignant small round cell tumors (MSRCTs) originating in various sites of the body with the objective of utilization of cytomorphological features and ancillary techniques.
    UNASSIGNED: It is a cross-sectional study conducted over a time span of 3 years (2017-2020). 33 cases of tumors with round cell morphology were evaluated by fine needle aspiration cytology (FNAC).
    UNASSIGNED: The application of cell block preparation supported by immunohistochemistry aided in the categorization of 23 cases with definite diagnosis and the rest were reported as MSRCTs.
    UNASSIGNED: Among the categorized 23/33 cases, the most common diagnosis was Ewing\'s sarcoma (7/23) followed by 6 cases of lymphoma. There were 2 cases each of rhabdomyosarcoma and Langerhans cell histiocytosis (LCH) and 1 case each of neuroblastoma, desmoplastic small round cell tumor (DSRCT), myeloid sarcoma, neuroendocrine tumor of pancreas, plasmacytoma, and small cell carcinoma. Histopathology confirmation was available in 24/33 cases. Among the categorized tumors (23/33), biopsy correlation was available in 19 cases, of which concordant result was seen in 17 cases (89.47%), which were 6 cases of lymphoma, 5 cases of Ewing\'s sarcoma (EWS), 2 of rhabdomyosarcoma, and 1 each of neuroblastoma, small cell carcinoma, DSRCT, and LCH. Discordant result was seen in one case of rhabdomyosarcoma and a case of synovial sarcoma reported as extraskeletal EWS in cytology. Out of the uncategorized cases reported as MSRTCs, histopathology was available in 5 cases which were diagnosed as rhabdomyosarcoma (1 cases), lymphoma (1 case), amelanotic melanoma (1 case), and extraskeletal EWS (2 cases).
    UNASSIGNED: Categorization of MSRCTs should be done to implement appropriate therapeutic protocol. FNAC provides a rapid diagnosis contributing immensely for the timely management of the patient. Detailed cytomorphological evaluation serves as a guide for further evaluation by ancillary techniques leading to definitive diagnosis.
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  • 文章类型: Journal Article
    化疗的性腺毒性数据对于更好地为年轻女性和男性提供有关不孕症风险的咨询以及在癌症治疗之前更好地指示生育力保护措施至关重要。然而,这些数据最近还没有被审查为骨癌。因此,对自2000年以来发表的论文进行了系统的文献检索。这项研究是FertiTOX®项目的一部分,该研究旨在改善癌症治疗缺乏有关性腺毒性的数据,以便能够更准确地提供有关保留生育能力的咨询。仅包括无复发的女性和男性。性腺毒性治疗引起的疑似不孕症被定义为非常低的抗苗勒管激素,促性腺激素浓度高,闭经,月经少发,无精子症,或少精子症。使用纽卡斯尔-渥太华量表(NOS)评估各个研究的质量。总的来说,831项研究中有11项纳入了审查。怀疑不孕症在10/190发现(5.1%,0%-66%)的女性骨肉瘤患者(六项研究),在24/46(52.2%,范围为46%-100%)的男性骨肉瘤患者(三项研究),在18/138(13.0%,范围3%-18%)的女性尤因肉瘤患者(三项研究),34/38(89.5%)男性尤因肉瘤患者(一项研究)。与特定化疗相关的风险计算是不可能的。所有患者均接受烷化剂化疗的尤因肉瘤患者疑似不孕症的风险往往较高。11项纳入研究中有两项获得了较高的NOS质量评分,而其余九项研究的质量得分较低,主要是因为缺乏比较组。公开的数据对于精确估计性腺毒性太有限。然而,数据表明临床相关的不孕症风险,支持化疗前咨询患者生育力保存措施。
    Data on gonadotoxicity of chemotherapies are essential to better counsel young females and males about the risk of infertility and to better indicate fertility preservation measures before cancer therapies. However, such data have not recently been reviewed for bone cancer. Therefore, a systematic literature search was conducted considering papers published since 2000. This study is part of the FertiTOX® project, which aims to improve the lack of data regarding gonadotoxicity of cancer therapies to enable more accurate counseling regarding fertility preservation. Only relapse-free women and men were included. Gonadotoxic therapy-induced suspected infertility was defined as very low anti-mullerian hormone, high gonadotropin concentration, amenorrhea, oligomenorrhea, azoospermia, or oligozoospermia. The quality of the individual studies was assessed using the Newcastle-Ottawa Scale (NOS). In total, 11 out of 831 studies were included in the review. Suspected infertility was found in 10/190 (5.1%, range 0%-66%) of female patients with osteosarcoma (six studies), in 24/46 (52.2%, range 46%-100%) of male patients with osteosarcoma (three studies), in 18/138 (13.0%, range 3%-18%) of female patients with Ewing\'s sarcoma (three studies), and in 34/38 (89.5%) of male patients with Ewing\'s sarcoma (one study). A risk calculation in relation to specific chemotherapies was not possible. Risk of suspected infertility tends to be higher in Ewing\'s sarcoma in which all patients received chemotherapies with alkylating agents. Two of the 11 included studies received a high NOS quality score, whereas the remaining nine studies received a low quality score, mainly because of the lack of a comparator group. Published data are too limited for precise estimation of the gonadotoxicity. However, data indicate clinically relevant risk for infertility, supporting counseling patients before chemotherapy about fertility preservation measures.
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