soft tissue tumour

软组织肿瘤
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    文章类型: Case Reports
    平滑肌瘤和神经鞘瘤都是罕见的良性软组织肿瘤。平滑肌瘤更常见于下肢,而不是上肢,而神经鞘瘤是罕见的周围神经鞘瘤,可以发生在不同的解剖区域。然而,它们很少发生在隐神经。该病例研究介绍了一名41岁的女性患者,其孤立性肿块病变位于下肢前内侧软组织深处。体检显示,弹性硬,流动和非招标群众。磁共振成像(MRI)在对比增强的T1加权切片上显示椭圆形皮下肿块。最初的MRI图像显示神经鞘瘤,但在完全摘除后,该肿瘤后来被证实为平滑肌瘤。进行了免疫组织化学研究以进行鉴别诊断。下肢孤立性肿块性病变可被误认为是各种类型的肿瘤,并被误诊,需要进行组织病理学检查和良好的影像学检查以进行鉴别诊断。完整的手术切除通常是平滑肌瘤的安全有效的治疗方法。
    Leiomyomas and schwannomas are both types of rare benign soft tissue tumours. Leiomyomas are more commonly found in the lower limbs than in the upper extremities, while schwannomas are rare peripheral nerve sheath tumours that can occur in different anatomical regions. However, they rarely occur in the saphenous nerve. This case study presents a 41-year-old female patient with a solitary mass lesion located deep in the soft tissue of the anteromedial lower extremity. The physical examination revealed a palpable, elastic-hard, mobile and non-tender mass. Magnetic resonance imaging (MRI) showed an oval-shaped subcutaneous mass on contrast-enhanced T1-weighted sections. The initial MRI images suggested a schwannoma, but the tumour was later confirmed to be a leiomyoma after total enucleation. An immunohistochemical study was performed for differential diagnosis. Solitary mass lesions in the lower extremities can be mistaken for various types of tumours and misdiagnosed and require histopathological examination and good radiological imaging for differential diagnosis. Complete surgical excision is usually a safe and effective treatment for leiomyomas.
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  • 文章类型: Journal Article
    总的来说,对38例接受手术切除治疗的囊性腕背肿瘤患者进行了2年的前瞻性随访。在初次手术后和复发时对组织进行组织学检查。发现两种不同的组织类型:神经节囊肿和滑膜囊肿。
    In total, 38 patients with cystic dorsal wrist tumours managed with surgical excision were prospectively followed up for 2 years. Tissue was examined histologically after primary surgery and at recurrence. Two distinct tissue types were found: ganglion cyst and synovial cyst.
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  • 文章类型: Case Reports
    近关节粘液瘤(JAM)是一种罕见的软组织肿瘤,主要由粘液组织组成,通常在大关节周围发现。我们报告了一名73岁的女性,她有5年的右手腕大脑皮层软组织肿块病史,她向我们部门介绍。神经节囊肿的初步诊断是使用磁共振成像(MRI)和抽吸肿块的胶状内容物进行的。演讲两年后,由于腕管综合征的症状恶化,通过放射状入路进行了肿瘤切除和腕管松解术。肿瘤侵入腕管.组织病理学检查发现JAM。在1年的随访中,腕管综合征的症状已经消退,MRI证实无复发。证据等级:V级(治疗)。
    Juxta-articular myxoma (JAM) is a rare soft tissue tumour predominantly composed of mucinous tissue and usually found around large joints. We report a 73-year-old woman with a 5-year history of a soft tissue mass in the thenar eminence of the right wrist who presented to our department. An initial diagnosis of a ganglion cyst was made using magnetic resonance imaging (MRI) and the jellied content of the mass by aspiration. Two years after presentation, surgical treatment with tumour resection and carpal tunnel release via the radial approach was performed because the symptoms of carpal tunnel syndrome worsened, and the tumour invaded the carpal tunnel. Histopathological examination revealed a JAM. At the 1-year follow-up, the symptoms of carpal tunnel syndrome had resolved, and no recurrence was confirmed by MRI. Level of Evidence: Level V (Therapeutic).
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  • 文章类型: Journal Article
    在黑色素瘤(PRAME)中优先表达抗原,癌症/睾丸抗原家族的成员,是皮肤癌诊断和治疗领域的核心。作为核受体和转录调节因子,PRAME在抑制视黄酸信号中起关键作用,这对细胞分化和增殖至关重要。其在各种恶性肿瘤中的异常过表达,特别是皮肤黑色素瘤,与更具侵袭性的肿瘤表型有关,将PRAME定位为诊断和预后标志物。在黑色素瘤中,PRAME通常高度表达,与其在良性痣中的弱表达或缺失相反,从而提高鉴别诊断的准确性。PRAME的诊断价值扩展到各种病变。它在葡萄膜黑色素瘤中显著表达,与转移风险增加有关。在肢端黑色素瘤中,尤其是那些组织病理学模糊的人,PRAME有助于提高诊断准确性。然而,其在皮囊样和指甲黑素细胞病变中的表达不一致,需要全面的方法进行准确评估。在软组织肉瘤中,PRAME可能特别有助于区分黑色素瘤和透明细胞肉瘤,一个重要的区别,由于它们相似的组织学外观,但不同的治疗方法和预后,或检测去分化和未分化的黑素瘤。在非黑色素瘤皮肤癌如基底细胞癌,鳞状细胞癌,和默克尔细胞癌,PRAME的可变表达可导致诊断复杂性。尽管面临这些挑战,PRAME作为黑色素瘤治疗靶点的潜力是显著的.新兴的免疫疗法,包括针对PRAME的T细胞疗法和疫苗,正在研究利用其癌症特异性表达。对PRAME在皮肤癌中的分子作用和作用机制的持续研究继续为诊断和治疗开辟新的途径。有可能改变黑色素瘤和相关皮肤癌的管理。
    Preferentially Expressed Antigen in Melanoma (PRAME), a member of the cancer/testis antigen family, is central to the field of skin cancer diagnostics and therapeutics. As a nuclear receptor and transcriptional regulator, PRAME plays a critical role in inhibiting retinoic acid signalling, which is essential for cell differentiation and proliferation. Its aberrant overexpression in various malignancies, particularly cutaneous melanoma, is associated with more aggressive tumour phenotypes, positioning PRAME as both a diagnostic and prognostic marker. In melanoma, PRAME is typically highly expressed, in contrast to its weak or absent expression in benign nevi, thereby improving the accuracy of differential diagnoses. The diagnostic value of PRAME extends to various lesions. It is significantly expressed in uveal melanoma, correlating to an increased risk of metastasis. In acral melanomas, especially those with histopathological ambiguity, PRAME helps to improve diagnostic accuracy. However, its expression in spitzoid and ungual melanocytic lesions is inconsistent and requires a comprehensive approach for an accurate assessment. In soft tissue sarcomas, PRAME may be particularly helpful in differentiating melanoma from clear cell sarcoma, an important distinction due to their similar histological appearance but different treatment approaches and prognosis, or in detecting dedifferentiated and undifferentiated melanomas. In non-melanoma skin cancers such as basal cell carcinoma, squamous cell carcinoma, and Merkel cell carcinoma, the variable expression of PRAME can lead to diagnostic complexity. Despite these challenges, the potential of PRAME as a therapeutic target in melanoma is significant. Emerging immunotherapies, including T-cell-based therapies and vaccines targeting PRAME, are being investigated to exploit its cancer-specific expression. Ongoing research into the molecular role and mechanism of action of PRAME in skin cancer continues to open new avenues in both diagnostics and therapeutics, with the potential to transform the management of melanoma and related skin cancers.
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  • 文章类型: Journal Article
    孤立性纤维性肿瘤(SFT)是一种具有可变行为的间充质肿瘤,很少涉及泌尿生殖道(GU)。大多数报告的病例对应于孤立的病例报告。STAT6免疫组织化学是较新和可靠的诊断标记。在两个大专院校的病理学数据库中搜索了涉及GU道的SFT。STAT6强弥漫性核染色证实了所有四例病例的诊断,NGS证实NAB2::STAT6融合1例。2例经穿刺活检确诊,一个涉及前列腺,另一个涉及精囊。一例对应于与前列腺和膀胱密不可分并浸润的盆腔肿块。其余代表精索极为罕见。在涉及GU器官的梭形细胞病变的鉴别诊断中,应考虑SFT的参与。STAT6强弥漫性核染色是重要的辅助工具,特别是在活检中。
    Solitary fibrous tumour (SFT) is a mesenchymal neoplasm with variable behaviour, very rarely involving the genitourinary (GU) tract. Most reported cases correspond to isolated case reports. STAT6 immunohistochemistry is a more recent and reliable diagnostic marker. The pathology database of two tertiary institutes was searched for SFTs involving the GU tract. STAT6 strong diffuse nuclear staining confirmed the diagnosis in all four cases, and the NAB2::STAT6 fusion was demonstrated by NGS in one case. Two cases were diagnosed in needle biopsy, one involving the prostate and the other involving the seminal vesicle. One case corresponded to a pelvic mass inseparable from and infiltrating the prostate and bladder. The remainder represented an exceedingly rare involvement of the spermatic cord. Involvement by a SFT should be considered in the differential diagnosis of spindle cell lesions involving GU organs. STAT6 strong diffuse nuclear staining is an important ancillary tool, particularly in a biopsy.
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  • 文章类型: Case Reports
    我们介绍了一例患者,该患者根据术前诊断外翻畸形和伴发滑囊炎进行了改良的围巾截骨术和肿瘤切除术。随后的组织病理学检查显示肿瘤是血管平滑肌瘤。虽然第一meta趾(MTP)关节周围的肿瘤通常与痛风结节有关,感染,或肿胀的滑囊(滑囊炎)患者的外翻畸形,在该区域很少发生软组织肿瘤。此外,血管平滑肌瘤是一种更罕见的软组织肿瘤,在切除前很少被怀疑。据我们所知,没有在第一个MTP关节中出现血管平滑肌瘤的报道.然而,在存在软组织肿块的情况下,重要的是要考虑非典型肿瘤的可能性,即使是有外翻畸形的病人,并在手术前至少进行成像测试,例如超声和磁共振成像(MRI)。这个前景应该永远铭记在心。
    We present a case of a patient who underwent a modified scarf osteotomy and tumour excision based on a preoperative diagnosis of hallux valgus deformity and accompanying bursitis. Subsequent histopathological examination revealed that the tumour was an angioleiomyoma. While tumours around the first metatarsophalangeal (MTP) joint are typically associated with gouty nodules, infections, or swollen bursa (bursitis) in patients with hallux valgus deformity, the occurrence of soft tissue tumours in this area is rare. Moreover, angioleiomyoma is an even rarer form of soft tissue tumour and is seldom suspected prior to resection. To our knowledge, there have been no reports of angioleiomyoma arising in the first MTP joint. However, it is important to consider the possibility of an atypical tumour in cases where soft tissue masses are present, even in patients with hallux valgus deformity, and to perform at least imaging tests such as ultrasound and magnetic resonance imaging before surgery. This prospect should always be kept in mind.
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  • 文章类型: Journal Article
    粘液纤维肉瘤(MFS)是一种软组织肉瘤,通常发生在成年后期。它主要位于四肢的皮下软组织中,其特征在于原始部位的高复发率。头部和颈部的MFS很少见,而它在上颌骨的发生极为罕见。我们报告了一名29岁男性上颌骨MFS的非典型病例。切除肿瘤的边缘足够,随后进行术后辅助放疗。到目前为止,该患者已经被随访了2年,并且一直没有疾病。稀有,病理学的侵略性,肿瘤的范围和靠近该部位的复杂神经血管结构通常会导致不良后果。我们将讨论一例罕见的病例,该病例是一名年轻的患者,该患者有辐射暴露史,这对诊断提出了挑战。我们的病例可能会为管理上颌窦粘液纤维肉瘤提供更多的诊断和治疗经验。
    Myxofibrosarcoma (MFS) is a soft tissue sarcoma that commonly occurs in late adult life. It is mainly located in the subcutaneous soft tissues of extremities characterized by a high recurrence rate at the original site. MFS of the head and neck is rare, while it occurrence in the maxilla is extremely rare. We report an atypical case of MFS of the maxilla in a 29-year-old male. The tumour was resected with adequate margin and following which post-operative adjuvant radiotherapy was given. This patient has been followed for 2 years to date and has remained disease free. The rarity, the aggressive nature of the pathology, the extent of the tumour and the complex neurovascular structures in close proximity to the site often lead to adverse outcomes. We will be discussing a rare case of a rapidly growing high grade maxillary sinus MFS in a young patient with a history of radiation exposure which posed as a diagnostic challenge. Our case may provide additional diagnostic and treatment experience with regards to managing maxillary sinus myxofibrosarcoma.
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  • 文章类型: Journal Article
    背景:非典型梭形细胞/多形性脂肪瘤(ASPLT)是一种少见的良性脂肪瘤,新近被WHO最新的软组织肿瘤分类所接受。
    方法:在我们的细胞病理学文件中搜索了具有组织病理学验证的ASPLT和梭形细胞/多形性脂肪瘤(SCPL)的例子。使用标准技术进行常规FNA活检涂片。
    结果:11例患者,其中ASPLT3例,SCPL8例[M:F=4.5:1;年龄范围:39至97岁,平均年龄=60岁]符合纳入标准。FNA活检部位包括四肢(5,45%),树干(3,27%),和头/颈部(3,27%)。所有抽吸物来自原发性肿瘤。ASPLT病例的FNA诊断为梭形细胞(SC)脂肪瘤,纤维化低级别SC肿瘤,和粘液样脂肪瘤。8例SCPL诊断为梭形细胞肿瘤(3例),梭形细胞脂肪瘤(SCL)(1),PL(1),可疑SCL(1),良性脂肪组织(1),和良性梭形细胞和结缔组织(1)。2例ASPLT病例的辅助测试显示,1例CD34阳性和MDM2免疫染色阴性,另一例MDM2和DDIT3的FISH结果阴性。
    结论:ASPLT是一种新型脂肪瘤,主要模拟SCPL和非典型脂肪瘤/高分化脂肪肉瘤。细致的细胞形态学观察,临床信息,和辅助测试可以允许其特定的识别使用FNA活检。
    Atypical spindle cell/pleomorphic lipomatous tumour (ASPLT) is an infrequently appreciated benign lipomatous neoplasm newly accepted into the most recent WHO classification of soft tissue tumours.
    Our cytopathology files were searched for examples of ASPLT and spindle cell/pleomorphic lipoma (SCPL) having histopathological verification. Conventional fine needle aspiration (FNA) biopsy smears were performed using standard techniques.
    Eleven patients including three cases of ASPLT and eight of SCPL (M:F = 4.5:1; age range: 39-97 years, mean age = 60 years) met the inclusion criteria. FNA biopsy sites included extremity (5, 45%), trunk (3, 27%), and head/neck (3, 27%). All aspirates were from primary neoplasms. FNA diagnoses of ASPLT cases were spindle cell lipomatous neoplasm, fibrotic low-grade SC neoplasm, and myxoid lipomatous neoplasm. Eight SCPL cases were diagnosed as spindle cell neoplasm (3), spindle cell lipoma (SCL) (1), pleomorphic lipoma (1), suspicious for SCL (1), benign adipose tissue (1), and benign spindle cells and connective tissue (1). Ancillary testing in two ASPLT cases showed positive CD34 and negative MDM2 immunostain in one, and negative FISH results for MDM2 and DDIT3 in another.
    ASPLT is a novel lipomatous neoplasm simulating primarily SCPL and atypical lipoma/well-differentiated liposarcoma. Diligent cytomorphological observation, clinical information, and ancillary testing may allow for its specific recognition using FNA biopsy.
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  • 文章类型: Journal Article
    骨瘤是良性的,生长缓慢,分化肿瘤,主要位于颌面部骨骼区域。涉及没有骨附着的软组织的骨瘤是非常罕见的事件。一名68岁的女性,患有合并症(II型糖尿病,原发性高血压,原位起搏器)在她的右手掌的大鱼际区域出现无痛的固体肿块,这出现在大约1年半前,并在过去几个月显示出逐步扩大。在区域麻醉下,进行了切除活检,病变的组织病理学评估证实了软组织骨瘤的诊断。术后随访顺利,无任何并发症。
    Osteomas are benign, slow-growing, differentiated tumours, which are primarily located in the region of maxillofacial skeleton. Osteoma involving the soft tissues with no bony attachments is a very rare event. A 68-year-old woman with comorbidities (diabetes mellitus type II, primary hypertension, pacemaker in situ) presented with a painless solid mass in the thenar region of her right palm, which appeared almost 1 and half years ago and showed a progressive enlargement in the last few months. Under regional anaesthesia, an excisional biopsy was performed and the histopathological evaluation of the lesion confirmed the diagnosis of soft tissue osteoma. The postoperative follow-up period was uneventful without any complication.
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  • 文章类型: Journal Article
    目的:从骨骼和软组织肿瘤中区分非肿瘤性肿瘤模拟病理是三级中心肉瘤多学科团队(MDT)服务的基本目标之一。在这项研究中,我们的目的是分析非肿瘤性病变的发生率,这些非肿瘤性病变被称为三级转诊服务,并分析包含这些肿瘤模拟病理的条件谱。
    方法:我们进行了一项回顾性观察研究,收集了去年我们的MDT转诊的疑似肉瘤病例的活检证实的非肿瘤性结局。我们确定了2020年1月1日至2020年12月31日期间向我们提供服务的所有转诊,并编制了其组织学诊断。
    结果:在一年内,共有976例新病例作为疑似肉瘤转诊到我们的MDT。在这些推荐中,8.6%(84/976)接受了活检证实的非肿瘤性病理学结果。这些非肿瘤性结局分为以下病理类型:32.1%血管,31.0%炎症,14.3%创伤,6.0%退行性,6.0%特发性,4.8%感染,3.6%代谢,1.2%自身免疫,和1.2%的遗传。
    结论:涉及三级中心肉瘤MDT的大部分病理本质上是非肿瘤性的。这些病变由一系列病理组成,血管和炎症是最常见的。我们的研究,这是同类中的第一个,为临床医生提供了对三级中心遇到的肿瘤模拟病理的见解。
    OBJECTIVE: Distinguishing non-neoplastic tumour-mimicking pathologies from bone and soft tissue tumours is one of the fundamental aims of a tertiary centre sarcoma multidisciplinary team (MDT) service. In this study, we aim to analyse the incidence of non-neoplastic lesions referred to a tertiary referral service as suspected sarcoma, and to analyse the spectrum of conditions comprising these tumour-mimicking pathologies.
    METHODS: We conducted a retrospective observational study compiling the biopsy-proven non-neoplastic outcomes of suspected sarcoma cases referred to our MDT in the last year. We identified all referrals made to our service between 1st January 2020 and 31st December 2020 and compiled their histological diagnoses.
    RESULTS: A total of 976 new cases were referred to our MDT as suspected sarcoma in one year. Of these referrals, 8.6% (84/976) received a biopsy-proven outcome of non-neoplastic pathology. These non-neoplastic outcomes were categorised into the following types of pathology: 32.1% vascular, 31.0% inflammatory, 14.3% traumatic, 6.0% degenerative, 6.0% idiopathic, 4.8% infective, 3.6% metabolic, 1.2% autoimmune, and 1.2% genetic.
    CONCLUSIONS: A significant proportion of pathologies referred to a tertiary centre sarcoma MDT are non-neoplastic in nature. These lesions are made up of a range of pathologies, with vascular and inflammatory conditions being the most common. Our study, the first of its kind, offers clinicians an insight into tumour-mimicking pathologies encountered by a tertiary centre.
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