肺合并Erdheim-Chester病和Langerhans细胞组织细胞增多症:重叠综合征2例报告

IF 0.2
Yumay Pires, C. Jokerst, P. Panse, B. Kipp, H. Tazelaar
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引用次数: 0

摘要

埃尔德海姆-切斯特病(ECD)和朗格汉斯细胞组织细胞增多症(LCH)是两种罕见的疾病,通常通过临床、放射学和组织学标准来区分。然而,两种实体共存的情况很少见,报道的病例不到50例。虽然有LCH和ECD患者发生在同一器官的报道,但没有这两种疾病累及肺部的病例报道。我们报告两例发生在肺部的ECD-LCH“重叠综合征”。在这两例病例中,典型的免疫组织化学模式支持诊断,并且在这两例病例中,BRAF V600E突变均通过下一代测序鉴定并通过液滴数字聚合酶链反应证实。在两例病例中均未怀疑诊断。识别重叠组织细胞增多是很重要的。尽管LCH和ECD在治疗和预后方面可能有所不同,但在某些情况下,例如本文报道的两例患者,它们可能具有相同的激活突变,并且可能能够使用相同的靶向治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Combined Erdheim-Chester Disease and Langerhans Cell Histiocytosis in the Lung: A Report of 2 Patients With Overlap Syndrome
Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) are two rare diseases typically separated by clinical, radiologic, and histologic criteria. However, coexistence of both entities is rare, with fewer than 50 cases reported. Although there are reports of patients with LCH and ECD in the same organ, there have been no reported cases of the two diseases involving the lung. We report two cases of ECD-LCH “overlap syndrome” occurring in the lung. In both cases, the diagnoses were supported by typical immunohistochemical patterns, and in both cases, the BRAF V600E mutation was identified by next-generation sequencing and confirmed by droplet digital polymerase chain reaction. In neither case was either diagnosis suspected. The recognition of overlap histiocytoses is important. Although LCH and ECD may differ in treatment and prognosis, in some cases, such as the two patients reported here, they may have the same activating mutations and may be able to be treated with the same targeted therapy.
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期刊介绍: Each issue of Pathology Case Reviews examines one vital theme in the field with peer-reviewed, clinically oriented case reports that focus on diagnosis, specimen handling and reports generation. Each theme-oriented issue covers both histopathologic and cytopathologic cases, offering a comprehensive perspective that includes editorials and review articles of the newest developments in the field, differential diagnosis hints, applications of new technologies, reviews of current issues and techniques and an emphasis on new approaches.
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