Pendse Avani A, Wobker Sara E, Greene Kevin G, Smith Scott V, Esther Robert J, Dodd Leslie G
Department of Pathology, Duke University Medical Center, Durham, North Carolina.
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Diagn Cytopathol. 2018 Jan;46(1):83-87. doi: 10.1002/dc.23802. Epub 2017 Aug 23.
Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease (RDD) is a rare benign disorder that primarily affects the lymph nodes. Localized lymphadenopathy is the most common clinical manifestation of this disorder. However, RDD has been described in several extra-nodal sites including the head and neck region, soft tissue, skin, upper respiratory tract, gastro-intestinal tract and central nervous system (CNS). Involvement of the bone is considered very rare, occurring in less than 10% patients. RDD is one of the histiocytoses and the differential diagnosis includes entities such as Langerhans cell histiocytosis and Erdheim-Chester disease. In the rare intraosseous variant, the clinical and radiologic differential diagnosis is broader and includes neoplasms such as osteosarcoma and Ewing sarcoma. In this report, we describe three cases of extra-nodal, intraosseous RDD where touch imprint cytology played a crucial role in diagnosis. Two of the cases initially presented with involvement of the head and neck region and later developed intraosseous disease; while the third patient presented with primary bone involvement. The diagnosis was established by core biopsy with touch imprints of the bone lesions. The cytologic samples showed numerous histiocytes, often with neutrophils within their cytoplasm (emperipolesis) in addition to lymphocytes and plasma cells. The diagnosis of RDD was confirmed with appropriate immunohistochemical stains. Our account of these three cases of intraosseous Rosai-Dorfman disease highlights the role of cytology in the diagnosis of this rare entity.
伴有巨大淋巴结病的窦性组织细胞增多症，也称为罗萨伊-多夫曼病（RDD），是一种罕见的良性疾病，主要累及淋巴结。局限性淋巴结病是该疾病最常见的临床表现。然而，RDD已在包括头颈部区域、软组织、皮肤、上呼吸道、胃肠道和中枢神经系统（CNS）在内的多个结外部位被描述。骨骼受累被认为非常罕见，发生率不到10%的患者。RDD是组织细胞增多症之一，鉴别诊断包括朗格汉斯细胞组织细胞增多症和厄尔德海姆-切斯特病等疾病。在罕见的骨内型变体中，临床和放射学鉴别诊断范围更广，包括骨肉瘤和尤因肉瘤等肿瘤。在本报告中，我们描述了3例结外骨内RDD病例，其中触摸印片细胞学在诊断中起了关键作用。其中2例最初表现为头颈部受累，后来发展为骨内疾病；而第3例患者表现为原发性骨受累。通过对骨病变进行核心活检并进行触摸印片来确立诊断。细胞学样本显示有大量组织细胞，其细胞质内常有中性粒细胞（血细胞吞噬现象），此外还有淋巴细胞和浆细胞。通过适当的免疫组织化学染色证实了RDD的诊断。我们对这3例骨内罗萨伊-多夫曼病病例的描述突出了细胞学在诊断这种罕见疾病中的作用。
