CD117

CD117
  • 文章类型: Journal Article
    c-KIT是唾液腺肿瘤的重要诊断标志物,在大多数腺样囊性癌中表达。组织学上相似的唾液腺肿瘤,c-KIT的免疫组织化学表达可变,这构成了挑战,并使诊断可靠性变得矛盾。PubMed在MEDLINE中进行了电子搜索,谷歌学者,Scopus,行程,科克伦图书馆,和EMBASE至2023年12月31日,无期限限制。包括研究唾液腺肿瘤中CD117或c-KIT的文章以供审查。灵敏度,特异性,得出c-KIT免疫组织化学表达的阳性和阴性预测值,并使用Sierra软件的OpenMeta分析软件进行荟萃分析。使用QUADAS-2工具分析了选定研究中的偏倚风险,并使用RevMan5.4输出结果。审查了43篇文章,分析2285例唾液腺病例。腺样囊性癌的总表达率为84.9%。在上皮上皮癌中发现了相似的表达(79.1%),淋巴上皮癌(75%),肌上皮癌(60.8%),单形性腺瘤(94.1%),多形性腺瘤(74.7%)。敏感性,特异性,c-KIT/CD117对腺样囊性癌合并其他涎腺肿瘤的阳性和阴性预测值为84.99%,69.09%,84.79%,和69.41%,分别。目前的证据表明c-KIT,尽管它很敏感,没有特异性,因此不能作为区分腺样囊性癌与其他唾液腺肿瘤的有用诊断标记。对表现出相当表达的其他唾液腺肿瘤的进一步研究对于验证c-KIT的诊断准确性是必要的。
    c-KIT is an important diagnostic marker in salivary gland tumours and is expressed in most adenoid cystic carcinomas. Histologically similar salivary gland tumours with variable immunohistochemical expression for c-KIT pose a challenge and make diagnostic reliability ambivalent. An electronic search was performed in MEDLINE by PubMed, Google Scholar, Scopus, Trip, Cochrane Library, and EMBASE up to 31 December 2023, without period restriction. The articles that investigated CD117 or c-KIT in salivary gland tumours were included for review. Sensitivity, specificity, and positive and negative predictive values of c-KIT immunohistochemical expressions were derived and subjected to meta-analysis using Open Meta analyst for Sierra software. The risk of bias in selected studies was analysed using the QUADAS-2 tool, and RevMan 5.4 was used to output the result. Forty-three articles were reviewed, and 2285 salivary gland cases were analysed. Adenoid cystic carcinoma had an overall expression of 84.9%. A similar expression was found in epimyoepithelial carcinoma (79.1%), lymphoepithelial carcinoma (75%), myoepithelial carcinoma (60.8%), monomorphic adenoma (94.1%), and pleomorphic adenoma (74.7%). The sensitivity, specificity, and positive and negative predictive values of c-KIT/CD117 for adenoid cystic carcinoma with other salivary gland tumours were 84.99%, 69.09%, 84.79%, and 69.41%, respectively. Current evidence shows that c-KIT, despite its sensitivity, is not specific and therefore cannot be a useful diagnostic marker for distinguishing adenoid cystic carcinoma from other salivary gland tumours. Further research on other salivary gland tumours that exhibit comparable expression is necessary to validate the diagnostic accuracy of c-KIT.
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  • 文章类型: Case Reports
    我们确定了一名年轻女性患者因怀疑肾脏恶性肿瘤而入院。影像学评估和讨论后进行部分肾切除术。术后活检病理提示多发低度嗜酸性肾肿瘤(LOT)伴血管平滑肌脂肪瘤生长。在查看了数据之后,我们发现LOT主要是孤立的,发生在中老年患者中。这种情况是独一无二的,我们分享它以提高对这种疾病的理解。
    We identified a young female patient admitted for suspected renal malignancy. Partial nephrectomy was performed after imaging evaluation and discussion. Postoperative biopsy pathology reported multiple low-grade eosinophilic renal tumors (LOTs) with angiomyolipoma growth. After reviewing the data, we found that LOT was mostly solitary and occurred in middle-aged and elderly patients. This case is unique and we share it to improve the understanding of this disease.
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  • 文章类型: Case Reports
    该病例报告详细介绍了一名76岁女性患者的空肠穿孔胃肠道间质瘤(GIST)的罕见情况。患者出现急性腹痛和腹胀,排便习惯没有任何改变或恶心和呕吐发作。初始诊断,包括腹部平片和超声检查,没有定论;然而,计算机断层扫描(CT)扫描显示气腹和不规则的液体收集提示小肠穿孔。手术干预发现了一个35毫米的空肠GIST,穿孔10毫米。组织病理学检查证实混合细胞型GIST具有高恶性潜能,免疫组织化学标记CD117,DOG1和波形蛋白进一步证实。分子分析阐明了关键癌基因的作用,主要是KIT和PDGFRA突变,强调分子诊断在GIST管理中的重要性。尽管演讲的严重性,患者术后恢复良好,强调及时手术和多学科方法在管理复杂GIST病例中的有效性。
    This case report details a rare instance of a perforated jejunal gastrointestinal stromal tumor (GIST) in a 76-year-old female patient. The patient presented with acute abdominal pain and distension without any changes in bowel habits or episodes of nausea and vomiting. Initial diagnostics, including abdominal plain radiography and ultrasonography, were inconclusive; however, a computed tomography (CT) scan revealed pneumoperitoneum and an irregular fluid collection suggestive of small intestine perforations. Surgical intervention uncovered a 35 mm jejunal GIST with a 10 mm perforation. Histopathological examination confirmed a mixed cell type GIST with high malignancy potential, further substantiated by immunohistochemistry markers CD117, DOG1, and vimentin. Molecular analysis illuminated the role of key oncogenes, primarily KIT and PDGFRA mutations, emphasizing the importance of molecular diagnostics in GIST management. Despite the severity of the presentation, the patient\'s postoperative recovery was favorable, highlighting the effectiveness of prompt surgical and multidisciplinary approaches in managing complex GIST cases.
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  • 文章类型: Journal Article
    骨髓增生异常综合征(MDS)的诊断很复杂。骨髓单核细胞区室的流式细胞术分析可能是有帮助的,但它是高度主观的,非专门组的可重复性尚不清楚。通过流式细胞术对红系谱系的分析正在出现,因为它可能更具可重复性和更容易进行。同时保持高诊断性能。
    我们回顾了这方面的证据,包括1)使用公认的标志物-CD71和CD36-和其他不太公认的标志物和参数;2)使用红细胞谱系流式细胞术评分;3)其他方面,包括计算工具的出现和流式细胞术在诊断之外的作用.最后,我们讨论目前证据的局限性,包括1)样品处理方案和试剂对结果的影响,2)缺乏标准的门控策略,3)现有出版物中的概念化和设计问题。
    最后,我们通过流式细胞术对红细胞谱系分析提供了当前使用的建议-以及我们个人对价值的看法。
    The diagnosis of myelodysplastic syndrome (MDS) is complex. Flow cytometric analysis of the myelomonocytic compartment can be helpful, but it is highly subjective and reproducibility by non-specialized groups is unclear. Analysis of the erythroid lineage by flow cytometry is emerging as potentially more reproducible and easier to conduct, while keeping a high diagnostic performance.
    We review the evidence in this area, including 1) the use of well-established markers - CD71 and CD36 - and other less well-established markers and parameters; 2) the use of flow cytometric scores for the erythroid lineage; and 3) additional aspects, including the emergence of computational tools and the roles of flow cytometry beyond diagnosis. Finally, we discuss the limitations with the current evidence, including 1) the impact of the sample processing protocol and reagents on the results, 2) the lack of a standard gating strategy, and 3) conceptualization and design issues in the available publications.
    We end by offering our recommendations for the current use - and our personal take on the value - of the analysis of erythroid lineage by flow cytometry.
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  • 文章类型: Review
    乳头状神经胶质神经肿瘤是罕见的肿瘤,仅占所有颅内肿瘤的0.02%。它们通常是低级别的,通常发生在第三脑室附近的颞叶。我们报告了一种极为罕见的具有高增殖指数的脑室内肿瘤。在我们的病例中发现的CD117表达是我们所知的在这些肿瘤中描述的第一项研究。这一发现的临床和诊断意义有待进一步研究。
    Papillary glioneuronal tumors are rare neoplasm, accounting only <0.02% of all intracranial tumors. They are generally low grade usually occur in the temporal lobe near the third ventricle. We report an extremely rare case of intraventricular tumor with a high proliferation index. CD 117 expression found in our case is the first study to the best of our knowledge to be described in these tumors. The clinical and diagnostic significance of this finding is subject to further studies.
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  • 文章类型: Case Reports
    胃肠道间质瘤的频谱包括平滑肌瘤,平滑肌肉瘤,胃肠道间质瘤(GIST)和神经鞘瘤。神经鞘瘤(也称为神经瘤,神经鞘瘤或Verocay的神经鞘瘤)是众所周知的缓慢生长,起源于雪旺氏细胞鞘内神经丛的良性肿瘤。它们可以出现在周围神经的任何地方,并且经常在头部和颈部周围报告,臂丛神经和沿胃肠道。通常,这些肿瘤被检测为孤立的;然而,它们可以发生在身体周围的多个部位。神经鞘瘤病(多发性神经鞘瘤)通常与2型神经纤维瘤病有关;发病机理是由神经纤维瘤病2肿瘤抑制基因的突变引起的,导致其功能丧失。孤立性胃神经鞘瘤是由胃壁神经丛引起的罕见病变。经常被偶然发现或可能出现非特异性腹痛或出血。本文报道了一名79岁的患者在出现腹痛后被诊断为胃神经鞘瘤的病例。胃神经鞘瘤在鉴别诊断为胃间质瘤的病变时,应考虑。跨越广谱。胃神经鞘瘤通常是良性的,比胃GIST少得多,切除后预后良好。
    The spectrum for gastrointestinal tract mesenchymal tumours includes leiomyomas, leiomyosarcomas, gastrointestinal stromal tumours (GISTs) and schwannomas. Schwannomas (also known as neuroma, neurilemmomas or neurinomas of Verocay) are well-known slow-growing, benign neoplasms that originate from nerve plexuses within a Schwann cell sheath. They can arise anywhere along the course of the peripheral nerve and are frequently reported around the head and neck, brachial plexus and along the gastrointestinal tract. Usually, these tumours are detected as solitary; however, they can occur at multiple sites around the body. Schwannomatosis (multiple schwannomas) is usually associated with neurofibromatosis type 2; the pathogenesis is triggered by mutations of the neurofibromatosis 2 tumour suppressor gene resulting in a loss of its function. Solitary gastric schwannomas are rare lesions that arise from the nerve plexus of the gastric wall. Frequently they are detected incidentally or may present with nonspecific abdominal pain or bleeding. This paper reports the case of a 79-year-old patient diagnosed with gastric schwannoma after presenting with abdominal pain. Gastric schwannomas should be taken into consideration while making a differential diagnosis of lesions that are gastric mesenchymal tumours, which span a broad spectrum. Gastric schwannomas are typically benign, considerably less common than gastric GISTs, and have an excellent prognosis following excision.
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  • 文章类型: Journal Article
    Ectopic thymic carcinomas are rarely diagnosed in the thyroid gland, let alone in extrathyroid tissues. In the currently available literature, only five cases of extrathyroidal malignancies with thymic differentiation have been reported as arising in the major salivary glands. A 69-year-old female presented with a slow-growing palpable mass in the left parotid gland. Fine needle aspiration biopsy suggested metastatic cancer, whereas core needle biopsy revealed high-grade squamous cell carcinoma. The patient underwent left radical parotidectomy with selective ipsilateral lymph node dissection and subsequent radiation therapy. The surgical specimen was taken for histopathological examination. Microscopically, the tumor resembled thymic carcinoma. It was composed of large nests of squamoid cells with smooth contours, focally with a syncytial growth pattern, and accompanied by abundant lymphocytes with reactive lymphoid follicles. This appearance resembled a micronodular thymic carcinoma with lymphoid hyperplasia. Moreover, the tumor displayed expression of squamous markers (p40 and p63) and markers of thymic carcinoma (CD5 and CD117). Therefore, the final diagnosis of intrasalivary thymic carcinoma was rendered. The molecular analysis including next-generation sequencing demonstrated no variants of the strong, potential, or unknown clinical significance. The patient remains disease-free at 1-year follow-up. In the current case, we comprehensively present a clinical, microscopic, molecular, and radiological picture of CD5-positive squamous cell carcinoma of the parotid. We postulate that similar cases should be designated as intrasalivary thymic carcinoma analogically to similar thyroid tumors. Our case and the limited literature data indicate they should be distinguished from conventional squamous cell carcinoma of major salivary glands due to their rather favorable prognosis.
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  • 文章类型: Case Reports
    The patient was a 62-year-old man diagnosed as having prostatic extra-gastrointestinal stromal tumor (EGIST) who was treated with imatinib. No recurrence or metastasis was found after a 6-month follow-up. We identified 14 cases of prostatic primary EGIST in PubMed and summarized these cases with our case. The patients\' ages ranged from 31 to 78 years (average: 53.6 years), and most patients\' prostate-specific antigen (PSA) concentrations were within normal limits (92.9%, 13/14). All patients underwent imaging examinations; prostatic masses measured 6 to 14.2 cm (mean: 9.43 cm), and imaging excluded secondary prostatic masses from the intestinal tract. By immunohistochemical staining, the tumors were positive for cluster of differentiation (CD)117 (71.4%, 10/14), DOG1 (100%, 7/7), and CD34 (100%, 14/14), and negative for smooth muscle actin (SMA) (71.4%, 10/14), desmin (100%, 11/11), and S100 (100%, 12/12). Treatment depended on the results of the gene mutation detection as well as the risk estimation according to tumor size and microscopic mitotic rates (>5 per 50 high-power fields: 60%, 6/10). Among the 12 patients with reported outcomes, nine achieved good results (no recurrence or metastasis), one achieved reduced mass volume, one experienced recurrence, and one died.
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  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是胃肠道最常见的间质瘤。它们最常发生在胃中。直肠定位仍然很少见,仅占所有GIST病例的5%,占所有直肠肿瘤的0.1%。免疫组织化学染色(CD117,DOG1)和分子分析仍然是诊断的金标准;无论CD117表达如何,DOG1都代表非常敏感的标记。完全整块切除是唯一的治愈性治疗;然而,直肠GIST的外科治疗仍然具有挑战性,可能涉及广泛的手术,如腹部会阴切除术,发病率很高.新辅助伊马替尼治疗在直肠GIST中的作用是有争议的,主要用于局部晚期肿瘤或括约肌浸润,以增加完全切除和括约肌保留的机会。在这里,我们报告了3例直肠GIST接受新辅助伊马替尼治疗,并接受了完全切除(R0)的广泛手术,以及最近的文献综述,为了研究临床病理特征,外科挑战,直肠GIST的围手术期伊马替尼治疗结果。
    Gastrointestinal stromal tumors (GISTs) represent the most frequent mesenchymal tumors of the gastrointestinal tract. They occur most frequently in the stomach. Rectal localization remains rare and represents only 5% of all GIST cases and 0.1% of all rectal tumors. Immunohistochemical staining (CD117, DOG1) and molecular analysis remain the gold standard for diagnosis; DOG1 represents a very sensitive marker regardless of CD117 expression. Complete en-bloc resection constitutes the only curative treatment; however, surgical management of rectal GIST remains challenging and can involve extensive surgery such as abdominoperineal resection with significant morbidity. The role of neoadjuvant Imatinib therapy in rectal GISTs is controversial and mainly indicated in a locally advanced tumor or sphincter invasion to increase the chance of complete resection and sphincter preservation. Herein, we report three cases of a rectal GIST treated with neoadjuvant Imatinib therapy and who underwent extensive surgery with complete resection (R0), as well as a recent review of the literature, to study clinicopathological features, surgical challenges, and perioperative Imatinib therapy outcome of rectal GISTs.
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  • 文章类型: Case Reports
    背景:胃肠道间质瘤(GIST)是最常见的消化道间充质肿瘤。它们被认为源自Cajal的间质细胞或它们的前体。病例报告:一个10天大的男孩出现肠梗阻。他接受了手术,在乙状结肠发现了一个肿块,切除并进行结肠造口术。通过组织学和免疫组织化学研究证实了新生儿GIST的诊断。结论:这是第9例起源于肠道的新生儿GIST,首例报道起源于乙状结肠。结肠GIST可发生在新生儿年龄组。
    ABSTACTBackground: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasms of the digestive tract. They are believed to originate from the interstitial cells of Cajal or their precursors. Case Report: A 10-day-old boy presented with intestinal obstruction. He was operated upon and a mass was found at the sigmoid colon, which was resected and divided colostomy was performed. The diagnosis of neonatal GIST was confirmed by histologic and immunohistochemical studies. Conclusion: This is the ninth case of neonatal GIST that arose from the intestine and the first reported to arise from the sigmoid colon. Colonic GIST can occur in the neonatal age group.
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