Synchronous Pulmonary Langerhans Cell Histiocytosis and Multiple Cutaneous Reticulohistiocytomas With a Common BRAF-V600E/D Mutation Driver.

IF 1.1 4区 医学 Q4 DERMATOLOGY American Journal of Dermatopathology Pub Date : 2024-11-05 DOI:10.1097/DAD.0000000000002871
Ourania Parra, Natalia Georgantzoglou, Donald Green, Jessica G Wilson, Konstantinos Linos
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Abstract

Abstract: Histiocytoses constitute a group of heterogeneous disorders characterized by involvement of variable organs by neoplastic macrophage or dendritic cells. They may affect both adults and children with a predilection to the skin, bone, lungs, lymph nodes, and CNS. The coexistence of different types of histiocytoses in the same patient is an extremely rare phenomenon. We describe a very rare case of co-occurring pulmonary Langerhans cell histiocytosis with multiple cutaneous reticulohistiocytomas with a common BRAF-V600E mutation as the driver genetic event in both the lung and skin lesions. The presence of a common BRAF-V600E mutation provides evidence of their clonal relation and contributes to our understanding in the pathogenesis of multiple, co-occurring histiocytic proliferations.

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具有共同 BRAF-V600E/D 基因突变驱动因子的同步肺朗格汉斯细胞组织细胞增生症和多发性皮肤网状组织细胞瘤
摘要:组织细胞增生症是一组以肿瘤性巨噬细胞或树突状细胞累及不同器官为特征的异质性疾病。成人和儿童均可患病,好发于皮肤、骨骼、肺、淋巴结和中枢神经系统。同一患者同时患有不同类型的组织细胞增生症是极为罕见的现象。我们描述了一例非常罕见的肺朗格汉斯细胞组织细胞增生症与多发性皮肤网状组织细胞瘤并存的病例,肺部和皮肤病变的驱动基因都是共同的 BRAF-V600E 突变。共同的BRAF-V600E突变为它们之间的克隆关系提供了证据,有助于我们了解多发性、同时发生的组织细胞增生的发病机制。
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来源期刊
CiteScore
1.80
自引率
9.10%
发文量
453
审稿时长
3 months
期刊介绍: The American Journal of Dermatopathology offers outstanding coverage of the latest diagnostic approaches and laboratory techniques, as well as insights into contemporary social, legal, and ethical concerns. Each issue features review articles on clinical, technical, and basic science advances and illuminating, detailed case reports. With the The American Journal of Dermatopathology you''ll be able to: -Incorporate step-by-step coverage of new or difficult-to-diagnose conditions from their earliest histopathologic signs to confirmatory immunohistochemical and molecular studies. -Apply the latest basic science findings and clinical approaches to your work right away. -Tap into the skills and expertise of your peers and colleagues the world over peer-reviewed original articles, "Extraordinary cases reports", coverage of practical guidelines, and graphic presentations. -Expand your horizons through the Journal''s idea-generating forum for debating controversial issues and learning from preeminent researchers and clinicians
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