Fiani Danny-Joe, Émile Jean-François, Istier Luc, Boutin Anne-Blandine, Tychyj Christelle, Benzerdjeb Nazim, Donzel Marie, Balme Brigitte, Traverse-Glehen Alexandra, Fontaine Juliette
Service d'anatomie et cytologie pathologiques, institut de pathologie multisite, groupement hospitalier Sud, hospices civils de Lyon, Pierre-Bénite, France.
Service d'anatomie et cytologie pathologiques, hôpital Ambroise-Paré, AP-HP, Boulogne-Billancourt, France.
Ann Pathol. 2022 Nov;42(6):475-480. doi: 10.1016/j.annpat.2022.03.002. Epub 2022 Aug 26.
Rosai-Dorfman-Destombes disease is a rare non-Langerhansian cell histiocytosis characterized by the accumulation of large activated histiocytes in the affected tissues with images of emperipolesis. The diagnosis is not really problematic in the classical forms, with a lymph node presentation, whose histology is very suggestive. However, it can be much more difficult in the extra-nodal forms, which are misleading in both their clinical and histological presentation. We report here a case illustrating this diagnostic difficulty. Firstly, clinically, the disease was revealed by an unusual laryngeal location, responsible for acute obstructive respiratory distress and requiring urgent surgical management. Secondly, histologically, the diagnosis was not evoked in the first instance by analysis of the laryngeal lesion. Indeed, there was a not specific appearing polymorphic infiltrate, associating small lymphocytes, plasma cells and numerous histiocytes, without evidence for a lymphoma after immunohistochemistry and lymphocyte clonality analysis. However, after re-examination of the slides, the histiocytes sometimes appeared large or xanthomised and have a PS100+, CD1a-, langerhine- phenotype, with rare images of emperipolesis. These aspects finally suggested the diagnosis of Rosai-Dorfman-Destombes disease, then confirmed by a cervical lymph node biopsy showing characteristic histological features. Simultaneously, NGS analysis of the laryngeal lesion showed a mutation in the MAP2K1 gene, in accordance with the diagnosis. The patient was treated with revlimid and dexamethasone for 6 months, with complete remission, and is currently undergoing maintenance treatment with revlimid.
罗萨伊-多夫曼-德斯顿贝斯病是一种罕见的非朗格汉斯细胞组织细胞增多症，其特征是在受影响的组织中大量活化组织细胞积聚，并伴有血细胞吞噬现象。经典形式（表现为淋巴结受累）的诊断并不困难，其组织学表现极具提示性。然而，结外型的诊断可能困难得多，其临床和组织学表现均具有误导性。我们在此报告一例说明这种诊断困难的病例。首先，在临床上，该病因不寻常的喉部病变而被发现，导致急性阻塞性呼吸窘迫，需要紧急手术处理。其次，在组织学上，最初对喉部病变的分析未得出该诊断。确实，存在一种表现不特异的多形性浸润，伴有小淋巴细胞、浆细胞和大量组织细胞，免疫组化和淋巴细胞克隆性分析后未发现淋巴瘤证据。然而，在重新检查切片后，组织细胞有时显得较大或呈黄色瘤样，具有PS100+、CD1a-、朗格宁-表型，伴有罕见的血细胞吞噬现象。这些表现最终提示罗萨伊-多夫曼-德斯顿贝斯病的诊断，随后经颈部淋巴结活检显示特征性组织学特征得以证实。同时，对喉部病变的二代测序分析显示MAP2K1基因存在突变，与诊断相符。该患者接受来那度胺和地塞米松治疗6个月，完全缓解，目前正在接受来那度胺维持治疗。
