Immunohistochemical and genomic analysis of tumors

对CD171和PD-L1的大型研究已经完成。后一项研究支持将PD-L1作为病理学实验室的临床标记物。PD-L1在正常情况下仅在胎盘滋养层细胞中表达，在神经中弱表达，可能由雪旺细胞表达。PD-L1在滋养细胞肿瘤中持续表达，包括绒毛膜癌、胎盘部位滋养细胞肿瘤和混合生殖细胞肿瘤的滋养细胞成分。在霍奇金淋巴瘤、间变性大细胞淋巴瘤和鳞癌中也经常表达。在胃肠道癌中，错配修复缺陷和EBER阳性的肿瘤中表达更为普遍。CD171的研究表明，CD171与雪旺氏肿瘤有亲和力，并且在GIST中罕见表达，这与以前的研究不同。由于CD171在GIST中的表达非常罕见，因此未发现CD171可作为GIST的有用预后标记物，这与先前的研究结果不同。此外，还完成了对Sox10和短毛乌贼的大规模研究。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一些方案。我们还证实，核β-连环蛋白的表达是结节内栅栏状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的诊断特征，这两种肿瘤也都有相应的CTNNB1突变。我们还分析了儿童和腹膜后GIST，目前研究突变和融合是GIST的肿瘤进展因素。我们与NIH研究员Karel Pacak在副神经节瘤的生物学、病理学和免疫治疗方面进行了合作。我们最近与儿科肿瘤科、遗传学分会的成员和其他人合作，完成了对患有非典型神经纤维瘤的神经纤维瘤病1患者的基因组分析。神经纤维瘤病1是一种遗传性疾病，会增加儿童患癌症的可能性，特别是周围神经鞘瘤。我们继续研究融合性肉瘤。甲基化分类器在肿瘤分类和软组织肿瘤临床诊断中的应用是一项新兴的活动。

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. Application of methylation classifier in tumor classification and clinical diagnosis of soft tissue tumors is a new and growing activity.