Immunohistochemical and genomic analysis of tumors

针对CD171和PD-L1的大型研究已经完成。后一项研究支持了PD-L1在病理实验室作为临床标志物的发展。PD-L1通常仅在胎盘滋养细胞中表达，在神经中表达较弱，可能通过雪旺细胞表达。PD-L1在滋养层肿瘤中一致表达，包括绒毛膜癌、胎盘部位滋养层肿瘤和混合生殖细胞肿瘤的滋养层元件。在霍奇金淋巴瘤、间变性大细胞淋巴瘤和鳞状细胞癌中也有频繁表达。在胃肠道癌中，表达在错配修复缺陷和eber阳性的肿瘤中更为普遍。研究表明CD171与神经鞘瘤有亲和力，且在GIST中很少表达，这与以往的研究不同。由于其在GIST中的表达非常罕见，CD171未被发现是有用的GIST预后标志物，这与先前的研究结果不同。对Sox10和brachyury的大型研究也已完成。这些标记物通过提供更精确的肿瘤分类来支持临床诊断和许多方案。我们还证实核β -连环蛋白表达是结内栅栏性肌纤维母细胞瘤和鼻窦血管外皮细胞瘤/血管外皮细胞瘤的典型和潜在诊断特征，这两种肿瘤都有相应的CTNNB1突变。我们还分析了儿童和腹膜后胃肠道间质瘤，目前正在研究突变和融合作为胃肠道间质瘤的肿瘤进展因素。我们与NIH研究员Karel Pacak合作研究副神经节瘤的生物学、病理学和免疫治疗。我们最近与儿科肿瘤科、遗传学科和其他成员合作，完成了非典型神经纤维瘤1患者的基因组分析。神经纤维瘤病是一种遗传性疾病，会增加儿童患癌症的可能性，特别是周围神经鞘肿瘤。我们继续研究融合肉瘤。最近一项关于鼻黑色素瘤的基因组研究发现了SPREAD1突变。甲基化分类器在软组织肿瘤分类和临床诊断中的应用是一项新兴的研究活动。

Large studies were completed on CD171 and PD-L1. The latter study supported development as PD-L1 as a clinical marker in the Laboratory of Pathology. PD-L1 is normally expressed only in placental trophoblasts and weakly in nerves, probably by Schwann cells. PD-L1 is consistently expressed in trophoblastic neoplasms, including choriocarcinoma, placental site trophoblastic tumor, and trophoblastic elements of mixed germ cell tumors. Frequent expression was also confirmed in Hodgkin lymphoma, anaplastic large cell lymphoma, and squamous cell carcinomas. In gastrointestinal carcinomas, expression was more prevalent in tumors with mismatch repair-deficiency and EBER-positivity. Study of CD171 demonstrated affinity for schwannian tumors and rare expression in GIST, which differed from a previous study. Due to its very rare expression in GIST, CD171 was not found to be useful prognostic marker for GIST, which differed from the results of a previous study. Large studies of Sox10 and brachyury were also completed. These markers support clinical diagnosis and a number of protocols by offering more precise tumor classification. We also established that nuclear beta-catenin expression is a typical and potentially diagnostic feature for intranodal palisaded myofibroblastoma and sinonasal hemangiopericytoma/glomangiopericytoma, both of which also have corresponding CTNNB1 mutations. We also analyzed pediatric and retroperitoneal GISTs and currently study mutations and fusion as tumor progression factors in GIST. We collaborate with NIH investigator Karel Pacak on biology, pathology, and immunotherapy of paragangliomas. We recently collaborated with members of the Pediatric Oncology Branch, Genetics Branch, and others to complete a genomic analysis of neurofibromatosis 1 patients with atypical neurofibromas. Neurofibromatosis 1 is a genetic disease that increases the likelihood of childhood cancer, specifically peripheral nerve sheath tumors. We have continued study of fusion sarcomas. A recent genomic study on nasal melanoma revealed SPREAD1 mutation. Application of methylation classifier in tumor classification and clinical diagnosis of soft tissue tumors is a new and growing activity.