chondroma

软骨瘤
  • 文章类型: Journal Article
    骨外软骨瘤是不附着于骨骼或骨膜的小结节性软骨病变。它们是罕见的肿瘤,通常发生在手和脚。本研究的目的是描述左膝骨外肌内软骨瘤(EIC)的病例以及我们面临的诊断挑战。一名25岁的女性患者表现为左膝肿胀缓慢增长2年。临床上,肿胀是由股四头肌引起的。我们考虑了横纹肌瘤等可能性,神经纤维瘤,和肌内脂肪瘤.影像学检查提示良性脂肪瘤。她接受了切除治疗。显微镜检查与EIC一致,无复发。一个罕见的实体,临床上,EIC可以模拟其他良性软组织肿瘤。组织病理学检查可以提供明确的诊断。切除肿瘤是治愈性的。
    Extraskeletal chondromas are small nodular cartilaginous lesions not attached to bone or the periosteum. They are rare tumors commonly occurring in the hands and feet. The objective of the present study is to describe a case of extraskeletal intramuscular chondroma (EIC) in the left knee and the diagnostic challenges faced by us. A 25-year-old female patient presented with slow-growing swelling in the left knee for 2 years. Clinically, the swelling was arising from the quadriceps muscle. We considered possibilities such as rhabdomyoma, neurofibroma, and intramuscular lipoma. Imaging studies suggested a benign fatty tumor. She was treated by excision. Microscopy was consistent with EIC without recurrence. A rare entity, clinically, EIC can mimic other benign soft-tissue tumors. Histopathology exams can provide a definitive diagnosis. The excision of the tumor is curative.
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  • 文章类型: Journal Article
    喉软骨瘤很少见,占所有喉部肿瘤的不到1%。软骨瘤是良性间质瘤,其特征是生长缓慢,主要起源于环状软骨,其次是甲状腺,Arytenoid,和会厌软骨.本范围审查旨在了解流行病学证据的范围,临床特征,发病率,喉软骨瘤(LC)复发。
    MEDLINE(Ovid),Embase(Elsevier),WebofScience(Clarivate),Cochrane中央对照试验和系统审查登记册,丁香花,Scopus,和谷歌学者数据库。
    范围审查于1816年至2023年进行,用于描述LC的观察性研究。标题和摘要进行了相关性筛选,然后对全文进行资格评估。数据是从合格的文章中收集的,并对结果进行了叙述性总结。
    一百一十九项研究符合纳入标准。94例病例报告,22个案例系列,和3个队列。描述了两百四名诊断为LC的参与者。男性:女性比例为2.8:1。最常见的定位是环状软骨(113;47.08%),其次是甲状腺(45;18.75%),andarytenoid软骨(27;11.25%)。呼吸困难(78.85%)和声音嘶哑(74.28%)是最多的报告症状。复发率为11.25%,切除后并发症并不常见。
    这项范围审查发现所有软骨喉肿瘤的低频率率。大多数患者接受了切除治疗,恶性肿瘤转化率低。该人群的归因死亡率较低,发病率,和复发根据目前的文献。
    UNASSIGNED: Cartilaginous tumors of the larynx are rare, representing less than 1% of all laryngeal tumors. Chondromas are benign mesenchymal tumors characterized by a slow-paced growth, primarily originated in the cricoid cartilage, followed by the thyroid, arytenoid, and epiglottic cartilages. This scoping review aims to understand the extent of evidence on the epidemiology, clinical characteristics, morbidity, and recurrence of the laryngeal chondroma (LC).
    UNASSIGNED: MEDLINE (Ovid), Embase (Elsevier), Web of Science (Clarivate), Cochrane Central Register of Controlled Trials and Systematic Reviews, Lilacs, Scopus, and Google Scholar databases.
    UNASSIGNED: The scoping review was conducted from 1816 to 2023, for observational studies describing LC. Titles and abstracts were screened for relevance, followed by an evaluation of the full text for eligibility. The data were collected from the qualifying articles, and a narrative summary of the outcomes was prepared.
    UNASSIGNED: One hundred and nineteen studies met the inclusion criteria. Ninety-four case reports, 22 case series, and 3 cohorts. Two hundred and four participants with a diagnosis of LC were described. Male:female ratio was 2.8:1. The most common localization was the cricoid (113; 47.08%), followed by the thyroid (45; 18.75%), and the arytenoid cartilage (27; 11.25%). Dyspnea (78.85%) and hoarseness (74.28%) were the most reported symptoms. The recurrence rate was 11.25%, and complications were uncommon following the resection.
    UNASSIGNED: This scoping review found a low-frequency rate over all the cartilaginous laryngeal tumors. Most patients were treated with resection, with a low rate of malignancy conversion. This population has low attributable mortality, morbidity, and recurrence according to the current literature.
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  • 文章类型: Journal Article
    目的:我们旨在描述颅内轴外软骨瘤的计算机断层扫描(CT)和磁共振(MR)成像发现。
    方法:我们回顾性评估了6例患者(3例男性和3例女性,年龄21-66岁),具有颅内轴外软骨瘤的组织病理学诊断。
    结果:四个肿瘤位于额区,两个位于海绵窦区。所有肿瘤在扩散加权图像上显示低信号,在表观扩散系数图上显示高信号,而没有限制扩散。所有肿瘤均无病灶周围水肿。海绵窦软骨瘤与骨侵蚀和颈内动脉前移位有关,但没有钙化.所有额叶软骨瘤均存在钙化。所有肿瘤在T1加权MR图像上显示低信号。额叶软骨瘤显示混合信号,但是海绵窦软骨瘤在T2加权MR图像上表现出明显的高强度。在两个软骨瘤中均未检测到增强。在海绵窦软骨瘤中检测到强烈的均匀增强。
    结论:额轴外软骨瘤和海绵窦软骨瘤的影像学表现可能不同。尽管有广泛的影像学发现,没有限制的扩散,周围水肿,增强,在界限清楚的钙化轴外肿块中,T1加权MR图像上的低信号的存在应提示颅内软骨瘤。
    OBJECTIVE: We aimed to describe the computed tomography (CT) and magnetic resonance (MR) imaging findings of intracranial extra-axial chondroma.
    METHODS: We retrospectively evaluated the imaging findings of CT and MR examinations of six patients (three men and three women, aged 21-66 years) with histopathological diagnoses of intracranial extra-axial chondroma.
    RESULTS: Four tumors were located in the frontal region and two in the cavernous sinus. All the tumors showed low signals on diffusion-weighted images and high signals on apparent diffusion coefficient maps without restricted diffusion. There was no perifocal edema in all the tumors. Cavernous sinus chondromas were associated with bone erosion and anterior displacement of the internal carotid arteries, but without calcification. Calcification was present in all frontal chondromas. All the tumors revealed low signals on T1-weighted MR images. Frontal chondromas revealed mixed signals, but cavernous sinus chondromas were brightly hyperintense on T2-weighted MR images. No enhancement was detected in the two chondromas. An intense homogeneous enhancement was detected in a cavernous sinus chondroma.
    CONCLUSIONS: The imaging appearances of frontal extra-axial chondromas and cavernous sinus chondromas may have different imaging appearances. Although there is a wide range of imaging findings, the absence of restricted diffusion, perifocal edema, enhancement, and presence of low signals on T1-weighted MR images in a well-circumscribed calcified extra-axial mass should suggest an intracranial chondroma.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    一名54岁的Gleason9前列腺癌患者报告有淋巴结和骨骼转移。医院外报告显示,骨扫描中左肱骨近端活动异常,涉及转移;然而,同时PSMAPET/CT在该病变中未显示活动.对PET/CT图像的进一步回顾显示了左肱骨病变中内生软骨瘤的特征性特征。
    UNASSIGNED: A 54-year-old man with Gleason 9 prostate cancer with reported nodal and skeletal metastases was referred to us. Outside hospital reports described abnormal left proximal humerus activity on bone scan concerning for metastasis; however, concurrent PSMA PET/CT did not show activity in this lesion. Further review of the PET/CT images revealed characteristic features of enchondroma in the left humeral lesion.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    DICER1肿瘤易感性综合征是一种多效性疾病,可引起各种主要是儿科发作的病变。我们报告了一个大脚趾的骨外软骨瘤(EC)发生在一个孩子身上,不寻常的,携带种系“热点”错义DICER1变体,而不是更常见的功能丧失(LOF)变体。在EC中未鉴定出杂合LOF等位基因。我们证明了这种变体损害前体miRNA(pre-miRNA)的5p切割,并与野生型(WT)DICER1蛋白竞争pre-miRNA加工。这些结果表明一种机制,通过该机制,种系RNA酶IIIb变体可以在没有WTDICER1等位基因的完全LOF的情况下损害pre-miRNA加工。
    DICER1 tumor predisposition syndrome is a pleiotropic disorder that gives rise to various mainly pediatric-onset lesions. We report an extraskeletal chondroma (EC) of the great toe occurring in a child who, unusually, carries a germline \"hotspot\" missense DICER1 variant rather than the more usual loss-of-function (LOF) variant. No heterozygous LOF allele was identified in the EC. We demonstrate this variant impairs 5p cleavage of precursor-miRNA (pre-miRNA) and competes with wild-type (WT) DICER1 protein for pre-miRNA processing. These results suggest a mechanism through which a germline RNase IIIb variant could impair pre-miRNA processing without complete LOF of the WT DICER1 allele.
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  • 文章类型: Letter
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  • 文章类型: Journal Article
    目的:本研究旨在外部验证伯明翰非典型软骨肿瘤成像方案(BACTIP)对肱骨近端中央软骨肿瘤(CCT)的鉴别/随访建议,股骨远端,和胫骨近端,并提出BACTIP适应性,如果结果提供新的见解。
    方法:123例患者(45±11岁,在BACTIP(2003-2020/根特大学医院/比利时)之后,回顾性/连续地纳入了未经治疗的CCT并进行了MRI随访(n=62)或组织病理学确认(n=61)。内生软骨瘤之间的肿瘤长度和骨内膜扇贝差异,非典型软骨肿瘤(ACT),和高级别软骨肉瘤(CSII/III/去分化)进行评估。进行ROC曲线分析以区分良性和恶性CCT并评估BACTIP。
    结果:对于病变长度和骨内膜扇贝,ROC-AUC很差,相当优秀,分别,用于区分不同的CCT组(0.59-0.69对0.73-0.91)。骨内膜扇贝和BACTIP的诊断性能高于病变长度。来自ACT+高级别软骨肉瘤的1°骨内膜扇贝切断术分化内生软骨瘤,敏感性为90%,减少潜在的诊断延迟。然而,特异性为29%,导致过度医疗(过度随访)。BACTIP的ROC-AUC对于区分内软骨瘤与ACT较差(ROC-AUC=0.69;95CI=0.51-0.87;p=0.041),并且对于其他CCT组之间的区分相当好(ROC-AUC=0.72-0.81)。BACTIP建议在五个ACT和一个CSII中不正确/不安全,可能导致诊断延迟。11个中成虫接受了不必要的转诊/随访。
    结论:尽管有望成为肱骨近端CCT管理/随访的有用工具,股骨远端,和胫骨近端,5例ACTs和1例II级软骨肉瘤出院,可能导致诊断延迟,可以通过调整BACTIP截止值来降低。
    结论:大多数情况下,伯明翰非典型软骨肿瘤成像方案(BACTIP)正确评估肱骨近端和膝盖的中央软骨肿瘤。无论是在使用BACTIP时,还是在调整切断时,应谨慎权衡软骨肉瘤的诊断不足/潜在诊断延迟与软骨瘤的过度医疗。
    结论:•这种回顾性外部验证证实了伯明翰非典型软骨肿瘤成像方案是一种有用的工具,用于初始评估和随访建议大多数病例中肱骨近端和膝关节周围的中央软骨肿瘤。•仅使用伯明翰非典型软骨肿瘤成像方案,非典型软骨肿瘤和高级别软骨肉瘤(II级,三级,和去分化软骨肉瘤)可以误诊,将他们排除在专家转诊和进一步随访之外,从而造成延迟诊断和预后恶化的潜在风险.•适应截止,以最大限度地检测非典型软骨肿瘤和高级别软骨肉瘤,减少恶性肿瘤的诊断不足并减少潜在的诊断延迟,但增加良性肿瘤的不必要转诊和随访。
    OBJECTIVE: This study aimed to externally validate the Birmingham Atypical Cartilage Tumour Imaging Protocol (BACTIP) recommendations for differentiation/follow-up of central cartilage tumours (CCTs) of the proximal humerus, distal femur, and proximal tibia and to propose BACTIP adaptations if the results provide new insights.
    METHODS: MRIs of 123 patients (45 ± 11 years, 37 men) with an untreated CCT with MRI follow-up (n = 62) or histopathological confirmation (n = 61) were retrospectively/consecutively included and categorised following the BACTIP (2003-2020 / Ghent University Hospital/Belgium). Tumour length and endosteal scalloping differences between enchondroma, atypical cartilaginous tumour (ACT), and high-grade chondrosarcoma (CS II/III/dedifferentiated) were evaluated. ROC-curve analysis for differentiating benign from malignant CCTs and for evaluating the BACTIP was performed.
    RESULTS: For lesion length and endosteal scalloping, ROC-AUCs were poor and fair-excellent, respectively, for differentiating different CCT groups (0.59-0.69 versus 0.73-0.91). The diagnostic performance of endosteal scalloping and the BACTIP was higher than that of lesion length. A 1° endosteal scalloping cut-off differentiated enchondroma from ACT + high-grade chondrosarcoma with a sensitivity of 90%, reducing the potential diagnostic delay. However, the specificity was 29%, inducing overmedicalisation (excessive follow-up). ROC-AUC of the BACTIP was poor for differentiating enchondroma from ACT (ROC-AUC = 0.69; 95%CI = 0.51-0.87; p = 0.041) and fair-good for differentiation between other CCT groups (ROC-AUC = 0.72-0.81). BACTIP recommendations were incorrect/unsafe in five ACTs and one CSII, potentially inducing diagnostic delay. Eleven enchondromas received unnecessary referrals/follow-up.
    CONCLUSIONS: Although promising as a useful tool for management/follow-up of CCTs of the proximal humerus, distal femur, and proximal tibia, five ACTs and one chondrosarcoma grade II were discharged, potentially inducing diagnostic delay, which could be reduced by adapting BACTIP cut-off values.
    CONCLUSIONS: Mostly, Birmingham Atypical Cartilage Tumour Imaging Protocol (BACTIP) assesses central cartilage tumours of the proximal humerus and the knee correctly. Both when using the BACTIP and when adapting cut-offs, caution should be taken for the trade-off between underdiagnosis/potential diagnostic delay in chondrosarcomas and overmedicalisation in enchondromas.
    CONCLUSIONS: • This retrospective external validation confirms the Birmingham Atypical Cartilage Tumour Imaging Protocol as a useful tool for initial assessment and follow-up recommendation of central cartilage tumours in the proximal humerus and around the knee in the majority of cases. • Using only the Birmingham Atypical Cartilage Tumour Imaging Protocol, both atypical cartilaginous tumours and high-grade chondrosarcomas (grade II, grade III, and dedifferentiated chondrosarcomas) can be misdiagnosed, excluding them from specialist referral and further follow-up, thus creating a potential risk of delayed diagnosis and worse prognosis. • Adapted cut-offs to maximise detection of atypical cartilaginous tumours and high-grade chondrosarcomas, minimise underdiagnosis and reduce potential diagnostic delay in malignant tumours but increase unnecessary referral and follow-up of benign tumours.
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