Sox10

SOX10
  • 文章类型: Journal Article
    具有肾小管乳头状特征的乳腺癌是一种新描述的实体,与不良预后相关,文献中仅报道了14种肿瘤。我们报告了另外2种肿瘤,并鉴定了肿瘤的新免疫组织化学和分子特征。第一个肿瘤来自一名72岁的非转移性乳腺癌女性,第二个来自一名接受新辅助治疗的32岁的转移性乳腺癌女性。两种肿瘤均具有高级核特征,具有独特的形态,其特征是在>90%的浸润性癌中浸润性开放腺体,管状乳头状和微乳头状突起。除了通常的攻击行为预测因素,两种肿瘤均显示p16和SOX10的高表达,这在以前没有描述过。靶向肿瘤测序显示TP53在两种肿瘤中的致病变异,与以前的报告一致。先前的研究表明,p16和SOX10表达与高级别特征和较差的预后之间存在相关性;通常见于三阴性癌,如在我们的两种肿瘤中所证明的。然而,并非所有报道的具有肾小管乳头状特征的乳腺癌肿瘤都表现为三阴性,因为有少数报道的肿瘤具有雌激素受体和/或人表皮生长因子2的表达。由于其独特的形态和分子特征,具有肾小管乳头状特征的乳腺癌可能代表了一种新的乳腺癌组织学亚型。
    Breast carcinoma with tubulopapillary features is a newly described entity associated with poor prognosis with only 14 tumors reported in the literature. We report 2 additional tumors and identify novel immunohistochemical and molecular features of the tumor. The first tumor was from a 72-year-old woman with nonmetastatic breast carcinoma and the second was from a 32-year-old woman with metastatic breast carcinoma who received neoadjuvant therapy. Both tumors had high-grade nuclear features with a distinctive morphology characterized by infiltrating open glands with intratubular papillary and micropapillary projections in >90% of the invasive carcinoma. In addition to the usual predictors of aggressive behavior, both tumors showed a high expression of p16 and SOX10, which has not been previously described. Targeted tumor sequencing revealed pathogenic variants of TP53 in both tumors, in agreement with previous reports. Prior studies have shown a correlation between p16 and SOX10 expression with high-grade features and worse prognosis; typically seen in triple-negative carcinomas as demonstrated in both of our tumors. However, not all reported tumors of breast carcinoma with tubulopapillary features have demonstrated a triple-negative profile as there are a few reports of tumors with estrogen receptor and/or human epidermal growth factor 2 expression. Due to their distinct morphologic and molecular characteristics, breast carcinoma with tubulopapillary features may represent a new breast cancer histologic subtype.
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  • 文章类型: Review
    目的:颗粒细胞瘤(GCT)通常出现在皮下组织和头颈部,在胃肠道中并不常见。在儿科人群中使用食道GCT的经验有限,文献中只有7例报道,3伴嗜酸性粒细胞性食管炎(EoE)。
    方法:检索了11例食管GCT患儿的病例资料。H&E和免疫组织化学切片进行了临床回顾,内窥镜,和所有患者的随访数据。
    结果:总计,包括7名男性和4名女性患者,年龄从3到14岁不等。食管胃十二指肠镜检查(EGD)的适应症包括EoE(n=3),克罗恩病的随访,和其他非特定投诉。内窥镜检查,所有患者都有单一的粘膜下,伸入管腔的坚固物质,粘膜正常。在所有情况下,都通过内窥镜将多个碎片中的结节切除。组织学上,肿瘤显示细胞的片状和小梁含有温和的细胞核,不显眼的核仁,和丰富的粉红色颗粒细胞质,无非典型特征。所有肿瘤对S100、CD68和SOX10均具有免疫反应性。随访显示所有患者均无病(中位数,2年)。
    结论:我们报告了与EoE有巧合关联的最大系列小儿食管GCT。这些EGD发现是有特点的,活检切除是诊断和治疗。
    Granular cell tumor (GCT) commonly presents in the subcutaneous tissue and head and neck region, and it is uncommon in the gastrointestinal tract. Experience with esophageal GCTs in the pediatric population is limited, with only 7 cases reported in the literature, 3 with eosinophilic esophagitis (EoE).
    Case information from 11 pediatric patients with GCTs of the esophagus was retrieved. H&E and immunohistochemical slides were reviewed with clinical, endoscopic, and follow-up data from all patients.
    In total, 7 male and 4 female patients were included, with ages ranging from 3 to 14 years. Indications for esophagogastroduodenoscopy (EGD) included EoE (n = 3), follow-up for Crohn disease, and other nonspecific complaints. Endoscopically, all patients had a single submucosal, firm mass protruding into the lumen, with normal overlying mucosa. The nodules were removed endoscopically in multiple fragments in all cases. Histologically, the tumors showed sheets and trabeculae of cells containing bland nuclei, inconspicuous nucleoli, and abundant pink granular cytoplasm without atypical features. All tumors were immunoreactive for S100, CD68, and SOX10. Follow-up showed that all patients were disease-free (median, 2 years).
    We report the largest series of pediatric esophageal GCTs with coincidental association with EoE. These EGD findings are characteristic, and removal by biopsy is both diagnostic and therapeutic.
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  • 文章类型: Case Reports
    背景:源自雪旺氏细胞的食管神经鞘瘤是极为罕见的食管肿瘤。它们通常发生在食道上部和中部,但在食道下部较少见。在这里,我们报告一例罕见的下食管神经鞘瘤误诊为平滑肌瘤。我们还对下食管神经鞘瘤进行了简短的文献综述。
    方法:一名62岁男子出现严重吞咽困难,持续6个月。钡食管造影显示下食管在约5.5cm内被压缩。内窥镜检查显示食道中距离门牙32-38cm处存在较大的粘膜下隆起性病变。内窥镜超声检查结果显示4.5cm×5.0cm低回声病变。胸部计算机断层扫描显示肿块大小约为53mm×39mm×50mm。最初的测试显示了指示平滑肌瘤的特征。经过多学科的讨论,患者接受了电视胸腔镜食管部分切除术.涉及免疫组织化学检查的进一步研究证实了S100和Sox10阳性的梭形细胞,最终诊断为食管下段神经鞘瘤。随访期间无肿瘤复发或转移。
    结论:食管神经鞘瘤的最终诊断需要组织病理学和免疫组织化学检查。早期适当的手术有利于显著的预后。
    BACKGROUND: Esophageal schwannomas originating from Schwann cells are extremely rare esophageal tumors. They commonly occur in the upper and middle esophagus but less frequently in the lower esophagus. Herein, we report a rare case of a large lower esophageal schwannoma misdiagnosed as a leiomyoma. We also present a brief literature review on lower esophageal schwannomas.
    METHODS: A 62-year-old man presented with severe dysphagia lasting 6 mo. A barium esophagogram showed that the lower esophagus was compressed within approximately 5.5 cm. Endoscopy revealed the presence of a large submucosal protuberant lesion in the esophagus at a distance of 32-38 cm from the incisors. Endoscopic ultrasound findings demonstrated a 4.5 cm × 5.0 cm hypoechoic lesion. Chest computed tomography revealed a mass of size approximately 53 mm × 39 mm × 50 mm. Initial tests revealed features indicative of leiomyoma. After multidisciplinary discussions, the patient underwent a video-assisted thoracoscopic partial esophagectomy. Further investigation involving immunohistochemical examination confirming palisading spindle cells as positive for S100 and Sox10 led to the final diagnosis of a lower esophageal schwannoma. There was no tumor recurrence or metastasis during follow-up.
    CONCLUSIONS: The final diagnosis of esophageal schwannoma requires histopathological and immunohistochemical examination. The early appropriate surgery favors a remarkable prognosis.
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  • 文章类型: Case Reports
    We herein report a patient who was diagnosed as having olfactory groove schwannoma (OGS) which was negative for CD57 (Leu7) but positive for Schwann/2E and Sox10. A 13-year-old female with a chief complaint of headache was referred to our department due to a tumor lesion in the anterior skull base identified by magnetic resonance imaging (MRI). At the first visit, she did not exhibit altered consciousness, motor palsy, anosmia, seizures, or café au lait spots. On contrast-enhanced computed tomography (CT), a heterogeneously enhanced tumor, 50 × 45 × 50 mm in size, was observed at the anterior skull base. The left cribriform plate was thinner on bone window CT. The tumor exhibited strong, heterogeneous gadolinium enhancement on MRI as well. Slight tumor staining was observed by angiography of the left internal carotid artery but not the left external carotid artery. The patient was preoperatively diagnosed as having meningioma and underwent gross tumor resection via the basal interhemispheric approach. The tumor was strongly positive for S-100 protein and negative for epithelial membrane antigen and CD57 by immunostaining. The tumor was positive for both Schwann/2E and Sox10, which aided in the differential diagnosis between OGSs and olfactory ensheathing cell (OEC) tumors, and the definitive diagnosis was OGS. The assessment of immunoreactivities for Schwann/2E and Sox10 might be necessary to differentiate CD57-negative Schwannomas from OEC tumors.
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  • 文章类型: Journal Article
    自从20世纪80年代初发现S100蛋白作为一种可能用于诊断黑色素瘤的免疫组织化学标志物以来,还研究了大量其他可能用于辅助这些肿瘤鉴别诊断的黑素细胞相关标志物.存在很大的变化,然而,在这些标记中,不仅在黑色素瘤的某些亚型中表达,特别是促增生性黑色素瘤,而且在它们的特异性上,因为它们中的一些也可以在非黑素细胞肿瘤中表达,包括各种类型的软组织肿瘤和癌。本文回顾了目前可获得的有关某些标记物的实用价值的信息,这些标记物通常被推荐用于帮助诊断黑色素瘤,包括那些最近才可用的。
    Since the identification of S100 protein as an immunohistochemical marker that could be useful in the diagnosis of melanoma in the early 1980s, a large number of other melanocytic-associated markers that could potentially be used to assist in the differential diagnosis of these tumors have also been investigated. A great variation exists, however, among these markers, not only in their expression in some subtypes of melanoma, particularly desmoplastic melanoma, but also in their specificity because some of them can also be expressed in nonmelanocytic neoplasms, including various types of soft tissue tumors and carcinomas. This article reviews the information that is currently available on the practical value of some of the markers that have more often been recommended for assisting in the diagnosis of melanomas, including those that have only recently become available.
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