Glomus tumour

血管球瘤
  • 文章类型: Journal Article
    背景:血管球瘤是一种痛苦的血管球体小肿瘤,通常位于甲床下方。这项研究的目的是评估临床诊断与MRI检查结果的相关性,确定肿瘤在不同甲下位置的患病率,并确定纵向和横向甲床切口切除肿瘤的结果差异(如果有)。方法:本研究于2010年5月至2021年12月进行了56例甲下血管球瘤的回顾性研究。性别数据,介绍时的年龄,涉及数字,出现症状,症状持续时间,临床体征,需要核磁共振,解剖位置,手术入路(纵向与横向),组织病理学结果,记录随访时间和并发症。结果:所有56例(100%)患者均表现为经典三联征。平均症状持续时间为52.9个月(范围:3-204个月)。11例(20%)肿瘤在无菌基质中,在无菌和生发基质的交界处38(68%),在生发基质中7(12%)。肿瘤通过纵向切口切除31例(55.3%),横向切口切除25例(44.7%)。一个(1.8%)肿瘤是骨内肿瘤,在术中诊断并成功切除。平均随访35.4个月(6~120个月)。两个切口之间的结果(疼痛或指甲畸形)没有差异。一名患者(1.8%)的持续性疼痛是由于同一手指的卫星病变遗漏所致。后来切除,症状消退。没有复发,所有患者在切除肿瘤后均治愈。结论:血管球瘤的诊断通常是临床诊断,大多数位于无菌和生发基质的交界处。可以通过纵向或横向甲床切口切除肿瘤,而不会改变治疗结果。证据级别:IV级(治疗)。
    Background: Glomus tumour is a painful small tumour of the glomus body commonly located under the nail bed. The aim of this study is to evaluate the correlation of clinical diagnosis with MRI findings, determine the prevalence of the tumour at different subungual locations and determine the differences in outcomes (if any) between a longitudinal and a transverse nail bed incision for excision of the tumour. Methods: This retrospective study of 56 subungual glomus tumour was conducted from May 2010 to December 2021. Data with regard to gender, age at presentation, digit involved, presenting symptoms, duration of symptoms, clinical signs, need for MRI, anatomical location, surgical approach (longitudinal versus transverse), histopathology result, period of follow-up and complications were recorded. Results: All 56 (100%) patients presented with classic triad of symptoms. The average duration of symptoms was 52.9 months (range: 3-204 months). Eleven (20%) tumours were in the sterile matrix, 38 (68%) at the junction of sterile and germinal matrix and 7 (12%) in the germinal matrix. The tumours were excised through the longitudinal incision in 31 (55.3%) patients and transverse incision in 25 (44.7%). One (1.8%) tumour was intraosseous that was diagnosed intraoperatively and excised successfully. Average follow-up was 35.4 months (range: 6-120 months). There was no difference in outcomes (pain or nail deformity) between the two incisions. One patient (1.8%) has persistent pain that was due to a missed satellite lesion in the same digit. This was excised later with resolution of symptoms. There were no recurrences and all patients were cured after excision of tumour. Conclusions: Diagnosis of glomus tumour is usually clinical, and most are located at junction of sterile and germinal matrix. Tumour can be excised either by longitudinal or transverse nail bed incisions without any change of treatment outcome. Level of Evidence: Level IV (Therapeutic).
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  • 文章类型: Journal Article
    背景:血管球瘤是一种少见的软组织肿瘤,通常发生在四肢远端,特别是手指的指甲下区域。由于它的稀有性,关于血管球瘤的文献很少。因此,本文旨在根据我们机构的经验报道一系列案例。
    方法:在新加坡的一家高等教育机构中进行了一项回顾性横断面研究。从2019年1月至2022年10月在组织学上确诊为血管球瘤的所有患者都被纳入研究。患者的人口统计学和临床信息(表现出体征和症状,肿瘤参数和复发的存在)从现有的医疗记录中检索。
    结果:2019年1月至2022年10月共诊断出血管球瘤31例,并报告了相关的人口统计学和临床表现。大部分血管球瘤发生在手指(61.3%)。几乎所有病例都有疼痛(96.8%),而肿块可见不到一半(48.4%)。在正确诊断和治疗患者之前,平均经过了44.0个月。尽管有3例涉及边缘,但没有复发的病例。
    结论:如果临床医生没有怀疑的指标,血管球瘤很容易被遗漏,导致治疗延迟。一旦确诊,血管球瘤可以完全切除治疗,效果良好。
    BACKGROUND: Glomus tumour is an uncommon soft tissue tumour which commonly occurs in the distal extremities, particularly the subungual region of the finger. Due to its rarity, there is a paucity of literature concerning glomus tumour. Therefore, this paper aims to report a case series based on our institution\'s experience.
    METHODS: A retrospective cross sectional study was performed in a single tertiary institution in Singapore. All patients diagnosed with glomus tumour confirmed on histology from January 2019 to October 2022 were included in the study. Patient demographics and clinical information (presenting signs and symptoms, tumour parameters and presence of recurrence) were retrieved from existing medical records.
    RESULTS: A total of 31 cases of glomus tumour were diagnosed from January 2019 to October 2022, and the relevant demographics and clinical presentation were reported. Majority of glomus tumours occurred in the finger (61.3%). Pain was present in almost all the cases (96.8%), while a lump was visible in less than half (48.4%). An average of 44.0 months elapsed before patients were properly diagnosed and treated. There were no cases of recurrence despite involved margins in three cases.
    CONCLUSIONS: Glomus tumour can be easily missed if clinicians do not have an index of suspicion for it, resulting in delayed treatment. Once diagnosed, glomus tumour can be treated with complete excision with good outcomes.
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  • 文章类型: Journal Article
    颞骨副神经节瘤是罕见的肿瘤,表现可变,可能是遗传性的。确定侵袭性肿瘤行为的临床和遗传因素很重要。
    为了确定南佛罗里达州多种族人群中潜在的基因突变和基因型/表型相关性,这些人群患有散发性颞骨副神经节瘤。
    在一组鼓室球(GT)和颈静脉球(GJ)病例中,我们评估了致病性单核苷酸变异的频率,插入,删除,以及与副神经节瘤(SDHB,SDHC,SDHD,SDHA,SDHAF2,RET,NF1,VHL,TMEM127和MAX)。
    12例GT病例均无突变。在13例GJ病例中,我们确定了四个突变携带者(31%);两个在SDHC中,一个在SDHB,和一个SDHD。所有致病突变的患者都是西班牙裔,年龄较小(平均27.5岁对52.11岁),与突变阴性GJ病例相比,疾病更晚期。结论和意义:在31%的散发性GJ中发现了SDH基因的突变。SDH相关的GJ具有晚期疾病和50%的转移风险。我们的数据支持在所有GJ肿瘤人群中进行遗传筛查的新建议,因为遗传状态为管理提供了信息。
    UNASSIGNED: Temporal bone paragangliomas are rare tumours with variable presentation that can be hereditary. Identification of clinical and genetic factors of aggressive tumour behaviour is important.
    UNASSIGNED: To determine the underlying genetic mutations and genotype/phenotype correlations in a multi-ethnic population of South Florida with sporadic temporal bone paragangliomas.
    UNASSIGNED: In a cohort of glomus tympanicum (GT) and glomus jugulare (GJ) cases, we assessed the frequency of pathogenic single nucleotide variants, insertions, deletions, and duplications in coding exons of genes that have been associated with paragangliomas (SDHB, SDHC, SDHD, SDHA, SDHAF2, RET, NF1, VHL, TMEM127, and MAX).
    UNASSIGNED: None of the 12 GT cases had mutations. Among 13 GJ cases, we identified four mutation carriers (31%); two in SDHC, one in SDHB, and one in SDHD. All patients with pathogenic mutations were of Hispanic ethnicity, presented at a younger age (mean 27.5 versus 52.11 years), and with more advanced disease when compared to mutation-negative GJ cases.Conclusions and Significance: Mutations in the SDH genes are found in 31% of sporadic GJ. SDH-associated GJ had advanced disease and a 50% risk of metastasis. Our data supports emerging recommendations for genetic screening in all populations with GJ tumours as the genetic status informs management.
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  • 文章类型: Journal Article
    目的:血管球瘤是血管周围平滑肌分化的肿瘤,根据先前的病例报告,这种情况很少发生在食道中,并且可能在该部位表现出侵略性。这项研究描述了1984年至2022年在2个大型学术机构诊断的3个食管血管球瘤的临床病理特征。
    结果:发现3例食管血管球瘤。患者包括2名女性和1名男性,年龄范围为19-65岁。所有3个肿瘤都表现为恶性,转移到不同部位(淋巴结,肺,心包,胸膜,隔膜,头皮)。一个病人出现了主动脉食管瘘,导致致命的出血.肿瘤大小为4.5至8.1cm。组织学上,所有肿瘤都有多结节,血管周围生长模式.肿瘤显示不同程度的细胞学异型性和纺锤体,有丝分裂活性升高(每10个高倍视野2-12个有丝分裂数字),2例可见坏死。通过免疫组织化学,所有肿瘤均表达平滑肌肌动蛋白,并有NOTCH基因改变(MIR143::NOTCH2融合2例;NOTCH3重排和NOTCH1点突变1例)。在1个病例中还鉴定了外显子10中的ATRX剪接突变。
    结论:食管血管球瘤在该部位罕见,但可以通过其特征性的血管周围生长模式来识别,圆形中心核,和支持性辅助研究。考虑到这个地方的攻击性行为倾向,我们建议由多学科肉瘤团队进行治疗,以获得最佳结果.
    OBJECTIVE: Glomus tumours are neoplasms with perivascular smooth muscle differentiation, which rarely occur in the oesophagus and may behave aggressively in this site based upon prior case reports. This study describes the clinicopathologic features of three oesophageal glomus tumours diagnosed at two large academic institutions between 1984 and 2022.
    RESULTS: Three cases of oesophageal glomus tumours were identified. Patients included two females and one male, with an age range of 19-65 years. All three tumours behaved in a malignant fashion, with metastases to various sites (lymph nodes, lung, pericardium, pleura, diaphragm, scalp). One patient developed an aorto-oesophageal fistula, resulting in a fatal haemorrhage. Tumours ranged in size from 4.5 to 8.1 cm. Histologically, all tumours had a multinodular, perivascular growth pattern. The neoplasms showed varying degrees of cytologic atypia and spindling, elevated mitotic activity (2-12 mitotic figures per 10 high-power fields), and necrosis was seen in in two cases. All tumours expressed smooth muscle actin by immunohistochemistry, and harboured NOTCH gene alterations (MIR143::NOTCH2 fusion in two cases; NOTCH3 rearrangement and NOTCH1 point mutation in one case). An ATRX splicing mutation in exon 10 was also identified in one case.
    CONCLUSIONS: Oesophageal glomus tumours pose diagnostic challenges, given their rarity at this site, but can be recognised by their characteristic perivascular growth pattern, round central nuclei, and supportive ancillary studies. Given the propensity for aggressive behaviour in this location, we recommend management by a multidisciplinary sarcoma team for optimal outcome.
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  • 文章类型: Journal Article
    未经证实:血管球瘤是由血管球体引起的良性肿瘤,包含动静脉吻合和温度调节的专门的神经肌动脉结构网络。常被误诊为甲沟炎,关节炎,创伤性后遗症,和许多其他条件,包括精神病误诊。典型的阵发性疼痛三合会,点压痛,和不容忍寒冷的特点。手术切除是首选的治疗方法,通过横突或横向进近。
    UNASSIGNED:我们对过去4年在我们部门操作的病例进行了回顾性研究。根据任一临床参数对患者进行评估(Love测试,Hildreth测试,和冷不敏感)或放射学参数(X射线和磁共振成像)。参数,如年龄,性别,肿瘤侧,提出投诉,症状持续时间,诊断模式,随访持续时间,复发,并对术后指甲畸形进行分析。视觉模拟量表(VAS)评分是主要的统计参数,术后VAS评分的变化采用配对t检验分析.
    UNASSIGNED:术前平均VAS为7.75±0.5;在总共4例患者中,手术后,VAS降低至平均值1±1.5。术后VAS评分变化的配对t检验显示VAS评分差异有统计学意义(P=0.002838)。平均年龄为39.25岁。男女比例为1:3,平均随访时间为16个月(范围2-48个月)。症状的平均持续时间为5.75年(范围2-10年)。右手边有两个病例,2例位于左侧;拇指最常见,发生率为50%(n=2)。
    UNASSIGNED:Glomus肿瘤经常被误诊,在手术干预之前会采用不同的治疗方案进行干预。通过完整的手术切除,复发是零,但术后指甲生长需要近10个月。
    未经批准:四级。
    UNASSIGNED: Glomus tumours are benign neoplasms arising from the glomus body, a network of specialized neuromyoarterial structures containing arteriovenous anastomosis and regulating temperature. It is often misdiagnosed as paronychia, arthritis, traumatic sequelae, and many other conditions including psychiatric misdiagnosis. A typical triad of paroxysmal pain, point tenderness, and cold intolerance characterize it. Surgical excision is the treatment of choice, either by transungual or lateral approaches.
    UNASSIGNED: We carried out a retrospective study of cases operated in our department in the last 4 years. Patients are evaluated based on either clinical parameters (Love test, Hildreth test, and cold insensitivity) or radiological parameters (X-ray and magnetic resonance imaging). Parameters such as age, gender, tumour side, presenting complaints, duration of symptoms, diagnostic modality, follow-up duration, recurrence, and postoperative nail deformity were analysed. Visual analogue scale (VAS) score was the primary statistical parameter, and the change in VAS score following surgery was analysed with paired t test.
    UNASSIGNED: Mean preoperative VAS was 7.75 ± 0.5; in a total of four patients, and following surgery, VAS was reduced to a mean of 1 ± 1.5. Paired t test on the change of VAS score following surgery showed a significant difference in the VAS score (P = 0.002838). The average age was 39.25. The male-to-female ratio was 1:3, and the mean follow-up was 16 months (range 2-48 months). The mean duration of symptoms was 5.75 years (range 2-10 years). Two cases were in the right-hand side, and two cases were on the left-hand side; the thumb was most commonly involved with 50% (n = 2) incidence.
    UNASSIGNED: Glomus tumours are often misdiagnosed and are intervened with different treatment options before being surgically intervened. With complete surgical excision, recurrence is nil but postoperative nail growth requires nearly 10 months.
    UNASSIGNED: Level IV.
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  • 文章类型: Journal Article
    血管球瘤是一种罕见的良性间质瘤,通常位于真皮和皮下组织,最常见于四肢。胃肠道系统中的血管球瘤很少见,其症状无特异性。由于缺乏影像学和血液分析的特异性发现,胃血管球瘤的诊断具有挑战性。所以通常基于组织学和免疫化学。我们描述了一名22岁男子因苍白和贫血入院的情况,诊断路径,治疗和随访。本病例表明,在胃病变的鉴别诊断中应考虑这种罕见的实体。
    结论:血管球瘤是一种罕见的良性间叶性肿瘤,最常见于四肢。胃血管球瘤(GGT)很少见,其症状无特异性。GGT的诊断依赖于组织学和免疫组织化学,因为成像缺乏准确性。治疗通常是手术,但由于其恶性潜力,应考虑随访。
    Glomus tumour is a rare benign mesenchymal neoplasm usually located in the dermis and subcutis, and most commonly found in the extremities. Glomus tumour in the gastrointestinal system is rare and its symptoms unspecific. The diagnosis of gastric glomus tumour is challenging due to the lack of specific findings on imaging and blood analysis, and so is usually based on histology and immunochemistry. We describe the case of a 22-year-old man admitted for pallor and anaemia, the diagnostic path, treatment and follow-up. The present case suggests that this rare entity should be considered in the differential diagnosis of gastric lesions.
    CONCLUSIONS: Glomus tumour is a rare benign mesenchymal neoplasm most commonly found in the extremities.Gastric glomus tumour (GGT) is rare and its symptoms unspecific.The diagnosis of GGT relies on histology and immunohistochemistry as imaging lacks accuracy.Treatment is usually surgical but follow-up should be considered due to its malignant potential.
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  • 文章类型: Journal Article
    引言血管球瘤是在神经肌动脉血管球球体中具有错构瘤增殖的良性病变。血管球瘤很小,带红色,通常在指甲下面有疼痛的蓝色结节。目的本研究主要针对血管球瘤在T1、T2、短反转时间反转恢复(STIR)的磁共振成像(MRI)表现,和后钆图像。进一步研究临床和组织病理学发现以支持放射学诊断。材料与方法回顾性研究包括在乌代浦尔三级护理中心对24例手和腿血管球瘤的MRI影像学表现进行的详尽研究。该研究包括在组织病理学上证实有影像学发现的患者。使用3-TMR单元和高空间分辨率模块进行MRI研究。结果2015年1月至2020年11月6年间共诊断出血管球瘤24例。在24名患者中,14人是女性,10人是男性。最常见的参与地点是一只手,后面跟着一只脚。所有24例病例在T2加权图像上均显示等强度至高强度病变,在STIR图像上显示明显的高强度病变。进一步的组织病理学检查证实了诊断,显示以血管周围模式排列的单形肿瘤核巢。结论血管球瘤可表现为可变疼痛。诊断需要高度怀疑。对比MRI对血管球瘤的诊断具有重要意义。临床和组织病理学图片进一步证实了诊断。MRI成像进一步支持区分术后纤维化与残余或复发性肿瘤。
    Introduction Glomus tumors are benign lesions with hamartomatous proliferation in the neuromyoarterial glomus bodies. Glomus tumors are small, reddish, painful blue nodules usually underneath the fingernail. Objectives This study is mainly focusing on magnetic resonance imaging (MRI) findings of glomus tumors on T1, T2, short inversion time inversion recovery (STIR), and post-gadolinium images. Further study of clinical and histopathological findings to support the radiological diagnosis. Material & methods The retrospective study included an elaborate study of MRI imaging findings of 24 cases of glomus tumors of the hand and leg at a tertiary care center in Udaipur. Patients with imaging findings confirmed on histopathology were included in the study. MRI study was conducted using a 3-T MR unit and a high-spatial-resolution module. Results A total of 24 cases of glomus tumors were diagnosed during the six years between January 2015 and November 2020. Out of 24 patients, 14 were female and 10 were male. The most common site of involvement was a hand, followed by a foot. All 24 cases showed isointense to hyperintense lesions on T2-weighted images with a conspicuous hyperintense lesion on STIR images. Further histopathological examination confirmed the diagnosis showing nests of monomorphic tumor nuclei arranged in a perivascular pattern. Conclusion Glomus tumors can present with variable pain. A high index of suspicion is needed for diagnosis. Contrast MRI has a significant role in the diagnosis of glomus tumors. The clinical and histopathological picture further confirms the diagnosis. MRI imaging is further supportive to differentiate postoperative fibrosis from residual or recurrent tumors.
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  • 文章类型: Case Reports
    血管球瘤是良性间质瘤。在乳房中极为罕见。我们报告了一例54岁男性的乳头血管球瘤。据作者所知,这是第一例报告的乳头血管球瘤。我们描述了不同的症状,诊断和治疗的方法。
    A glomus tumour is a benign mesenchymal tumour. It is extremely rare in the breast. We report a case of glomus tumour of the nipple in a 54-year-old man. To the best of the authors\' knowledge, this is the first case report of a glomus tumour of the nipple. We describe the different presenting symptoms, method of diagnosis and treatment.
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  • 文章类型: Journal Article
    Vascular lesions of the hand are common and are distinct from vascular lesions elsewhere because of the terminal vascular network in this region, the frequent hand exposure to trauma and microtrauma, and the superficial location of the lesions. Vascular lesions in the hand may be secondary to local pathology, a proximal source of emboli, or systemic diseases with vascular compromise. In most cases, ischaemic conditions are investigated with Doppler ultrasonography. However, computed tomography angiography (CTA) or dynamic contrast-enhanced magnetic resonance angiography (MRA) is often necessary for treatment planning. MR imaging is frequently performed with MRA to distinguish between vascular malformations, vascular tumours, and perivascular tumours. Some vascular tumours preferentially affect the hand, such as pyogenic granulomas or spindle cell haemangiomas associated with Maffucci syndrome. Glomus tumours are the most frequent perivascular tumours of the hand. The purpose of this article is to describe the state-of-the-art acquisition protocols and illustrate the different patterns of vascular lesions and perivascular tumours of the hand.
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  • 文章类型: Journal Article
    UNASSIGNED: Glomus tumours are rare benign tumours formed by modified smooth muscle cells arising from the glomus body. Glomus tumours occurring in the iris have not been previously reported.
    UNASSIGNED: A 32-year-old woman presented with a 9-day history of blurred vision in her right eye. Ultrasound, computed tomography and magnetic resonance imaging confirmed the presence of a mass lesion within the iris. Surgery of the iris was performed and the tumour was removed. Histopathological analysis confirmed a glomus tumour. The patient remains clinically stable 5 months following surgery and has experienced no tumour recurrence.
    UNASSIGNED: The findings from this case suggest that the typical symptoms of a glomus tumour may be absent in some cases, and that imaging examinations can help in understanding the extent of the lesion and the involvement of adjacent structures. Moreover, pathology and immunohistochemistry are crucial to confirm the diagnosis.
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