Hematopathology Diagnosis

Pittaluga博士和我在反应性和肿瘤性淋巴增生性疾病、免疫缺陷状态和各种血液恶性肿瘤的诊断和分类方面提供帮助。我们为NCI的医生以及其他机构（特别是NIAID、NHLBI、NHGRI和NIAMSD）研究血淋巴疾病患者的医生提供咨询和协作服务。我们定期出席由NCI临床分支和其他研究所（NIAID、NHLBI和NHGRI）主办的会议。我们每年会诊超过2000宗个案。我们尽量将会诊限制在困难或有挑战性的病例，不接受“常规第二意见”的病例。相当大比例（约20%）的病例是由其他学术机构提交的，原因是诊断不确定，或由于几个机构之间的意见分歧。我们经常是具有挑战性的诊断问题的最终仲裁者。此外，我们在临床实践的基础上进行了新的观察，并发表了一些出版物，这些出版物来自最初在咨询中审查的病例材料。我们的临床咨询实践也与其他NIH临床小组协同，加强NIH临床协议的转诊。我们的工作已经改善了几种罕见疾病的诊断和分类，包括多中心Castleman病，Erdheim-Chester病，自身免疫性淋巴细胞增生综合征，KSHV和ebv相关的增殖，以及罕见的组织细胞疾病，如Rosai-Dorfman病。Castleman病的研究涉及大型多中心合作，我们在研究的设计和实施中都发挥了重要作用。作为专家审查小组的成员，我审查了提交到登记处的所有病例，以验证诊断，并与生物学和转化研究相关联。另一个有争议和困难的领域是与各种形式的免疫缺陷相关的淋巴增生性疾病和淋巴瘤的诊断和分类，包括先天性、移植后、其他医源性原因、获得性继发于艾滋病毒，或与免疫衰老相关的高龄。我们在《血液》杂志上发表了一篇观点文章，讨论了与免疫缺陷相关的淋巴增生性疾病分类相关的关键问题。我也在一个专家评审小组任职，以验证伯基特淋巴瘤的诊断，并对该肿瘤进行全面的TCGA分析。我是《世界卫生组织皮肤肿瘤分类蓝皮书》的主要撰稿人，并在《血液》杂志上发表了一篇综述文章，总结了皮肤淋巴瘤分类的最新进展。一些发表在文献中的报告强调了与非典型树突状细胞增殖、血管内大b细胞淋巴瘤和滤泡性淋巴瘤的组织学进展相关的诊断问题。

Dr. Pittaluga and I provide assistance in the diagnosis and classification of reactive and neoplastic lymphoproliferative disorders, immunodeficiency states, and diverse hematological malignancies. We provide consultative and collaborative services to physicians in the NCI, as well as to physicians studying patients with hematolymphoid disorders in other institutes, in particular NIAID, NHLBI, NHGRI, and NIAMSD. We regularly present at conferences sponsored by clinical branches in the NCI and other Institutes (NIAID, NHLBI, and NHGRI.) We receive more than 2000 cases in consultation each year. We try to restrict consultations to difficult or challenging cases, and do not accept cases for "routine second opinions". A significant proportion (approximately 20%) of the cases are submitted by other academic institutions based on diagnostic uncertainty, or because of differences of opinion among several institutions. We are often the final arbiter on challenging diagnostic problems. Additionally, we have made novel observations based on our clinical practice, and a number of publications have emanated from case material originally reviewed in consultation. Our clinical consultation practice also synergizes with other NIH clinical groups, enhancing referral to NIH clinical protocols. Our work has led to improvement in the diagnosis and classification of several rare diseases including multicentric Castleman disease, Erdheim-Chester disease, autoimmune lymphoproliferative syndrome, KSHV- and EBV-associated proliferations, and rare histiocytic disorders, such as Rosai-Dorfman disease. The studies of Castleman disease involve large multi-center collaborative efforts, in which we play a major role, both in the design and conduct of the studies. As a member of an expert review panel, I review all cases submitted to a registry, to validate the diagnosis, and correlate with biological and translational studies. Another controversial and difficult area is the diagnosis and classification of lymphoproliferative disorders and lymphomas associated with diverse forms of immunodeficiency, including congenital, post-transplant, other iatrogenic causes, and acquired secondary to HIV, or advanced age with associated immune senescence. We published a Perspective article in Blood, discussing key issues related to the classification of lymphoproliferative disorders associated with immune deficiencies. I also serve on an expert review panel to validate the diagnosis of Burkitt lymphoma for a comprehensive TCGA analysis of this tumor. I was a key contributor to the WHO Bluebook on the classification of cutaneous neoplasms, and a review article summarizing updates to the classification of cutaneous lymphomas was published in Blood. Several reports published in the literature highlighted diagnostic problems related to atypical dendritic cell proliferations, intravascular large B-cell lymphoma, and histological progression of follicular lymphoma.