原发性颅内Rosai-Dorfman病

目的 探讨原发性颅内Rosai-Dorfman病的临床病理特征。方法 对1例术前经影像学诊断为原发性颅内脑膜肿瘤患者，复习病史和影像学资料，手术标本常规病理制片，组织学检查和免疫组织化学标记S-100蛋白、CD68、GFAP、CKpan、EMA、vimentin、CD20、CD79α、CD3和CD43，并复习文献。结果 患者为老年女性，MRI显示病变位于左侧颅顶部脑膜并累及脑实质，组织学显示多量淡染的组织细胞、浆细胞和淋巴细胞组成的背景伴纤维化，同时组织细胞内有多量吞噬的淋巴细胞，免疫标记显示组织细胞表达S-100蛋白和CD68。结论 原发于颅内Rosai-Dorfman病是一种极其少见组织细胞异常增生性病变，病理诊断时需与颅内非特异性炎性病变和浆细胞肉芽肿等鉴别，该病变组织细胞S-100蛋白和CD68表达阳性是诊断本病的可靠依据。     

淋巴结外Rosai-Dorfman病7例临床病理分析

目的探讨淋巴结外Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理特征、诊断及鉴别诊断。方法对7例结外RDD患者进行HE染色和免疫组化检查,并复习相关文献。结果 7例结外RDD患者中男性4例,女性3例,年龄21～57岁(平均41岁),4例位于中枢神经系统,胫骨、甲状软骨和皮下组织各1例,均为结外单发病变。组织学改变:病变组织在低倍镜下呈大小不一的不规则结节样结构,结节内"明暗"相间。高倍镜下"暗区"为浸润的淋巴细胞、浆细胞等;"明区"是散在、成簇或片状分布的组织细胞。后者体积大,胞质丰富,泡状核,可见小核仁。部分组织细胞胞质内见吞噬完整的淋巴细胞和浆细胞等("伸入"现象)。免疫表型:组织细胞S-100蛋白和CD68均阳性,CD1a阴性。结论结外RDD少见,因组织细胞吞噬现象不明显且临床及影像学特征缺乏特异性,易被误诊。结节状分布的结构特点以及低倍镜下明暗相间的组织学特征是诊断RDD的重要线索。免疫组化标记有助于明确诊断。     

Extranodal Rosai-Dorfman disease: a clinicopathologic analysis of 7 cases

目的 探讨淋巴结外Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理特征、诊断及鉴别诊断.方法 对7例结外RDD患者进行HE染色和免疫组化检查,并复习相关文献.结果 7例结外RDD患者中男性4例,女性3例,年龄21～57岁(平均41岁),4例位于中枢神经系统,胫骨、甲状软骨和皮下组织各1例,均为结外单发病变.组织学改变:病变组织在低倍镜下呈大小不一的不规则结节样结构,结节内"明暗"相间.高倍镜下"暗区"为浸润的淋巴细胞、浆细胞等;"明区"是散在、成簇或片状分布的组织细胞.后者体积大,胞质丰富,泡状核,可见小核仁.部分组织细胞胞质内见吞噬完整的淋巴细胞和浆细胞等("伸入"现象).免疫表型:组织细胞S-100蛋白和CD68均阳性,CD1a阴性.结论 结外RDD少见,因组织细胞吞噬现象不明显且临床及影像学特征缺乏特异性,易被误诊.结节状分布的结构特点以及低倍镜下明暗相间的组织学特征是诊断RDD的重要线索.免疫组化标记有助于明确诊断.     

原发颅内Rosai-Dorfman病临床病理特点及文献复习

目的 探讨原发颅内Rosai-Dorfman病(RDD)的临床病理特征、诊断、鉴别诊断及治疗.方法 复习1例原发颅内RDD的临床病史、影像学资料、大体标本、HE染色及免疫组化标记,并回顾分析国内已报道的原发颅内RDD 19例.结果 中枢神经系统RDD好发于中年男性.光镜下病变呈"明暗"相间的组织学特征伴局部纤维化,在浆细胞和淋巴细胞组成的弥漫浸润背景中见散在分布吞噬完整淋巴细胞的组织细胞.免疫标记显示组织细胞表达S-100蛋白和CD68.结论 原发颅内RDD是一种少见的组织细胞异常增生性病变,因病变部位多样化、组织形态学特征不明显,临床易误诊或漏诊.诊断上应与富于淋巴细胞浆细胞性脑膜瘤、Langerhans组织细胞增生症、慢性炎症性病变及淋巴细胞性垂体炎等鉴别.对于单发病例,手术切除病变既是明确诊断的手段又是治疗方案.     

多发皮肤Rosai-Dorfman病临床病理分析

Rosai-Dorfman病（RDD）又称巨大淋巴结病性窦组织细胞增生症（sinus histiocytosis with massive lymphadenopathy,SHML）,是一种病因不明的特发性组织细胞增生性疾病.1969年Rosai与Dorfman首次详细报道了这种疾病.RDD是以S-100蛋白阳性的组织细胞浸润并吞噬淋巴细胞、浆细胞为主要特点的淋巴结良性病变.此后又发现该病可以累及淋巴结以外的各种不同部位,甚至可以单独发生于淋巴结外并不伴有淋巴结肿大.皮肤是淋巴结外最常见的受累部位,国内报道也可见于鼻窦、脑膜 、肾脏等.单纯发生于淋巴结外的RDD很少见.在此就临床外检中遇到的1例皮肤RDD,探讨其临床特点、病理学特征、诊断、鉴别诊断,并对RDD研究的最新进展进行文献复习及讨论.[第一段]     

结外型Rosai-Dorfman病7例临床病理分析

目的 探讨Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理学特征、诊断及鉴别诊断。方法 回顾性分析7例RDD临床病理学特征及免疫表型、诊断及鉴别诊断等,并复习相关文献。结果 RDD主要发病部位在颌面部、乳腺及皮下组织。镜下有大量淋巴细胞、浆细胞和组织细胞浸润;部分病例存在典型组织细胞吞噬现象,病变常有纤维组织、纤维母细胞和泡沫样组织细胞增生;病变可呈明暗区交替;还可见淋巴细胞和浆细胞围绕血管成靶环样。免疫表型:组织细胞中S-100、CD68均阳性,CD1a、IgG均阴性。7例患者中仅有2例复发。结论 结外型RDD见多量组织细胞增生和慢性炎细胞浸润,组织学缺乏典型伸入运动特征,易与郎格汉斯组织细胞增生症、结核和IgG4相关疾病混淆,需结合临床病史及免疫表型排除其他疾病后确诊。     

组织细胞样乳腺癌临床病理学特征研究及文献复习

目的：观察组织细胞样乳腺癌的临床病理、免疫组织化学特点及鉴别诊断,并复习相关文献。方法：收集北大人民医院病理科2007~2014年及航空总医院病理科,建科以来的组织细胞样乳腺癌3例,分析其临床病理学及免疫组织化学特征,并采用FISH检测HER2基因的扩增水平。结果：镜下肿瘤细胞呈小巢或条索状生长。肿瘤细胞呈多边形,圆形,胞浆丰富,嗜酸,呈颗粒状、泡沫状,组织细胞样,细胞核呈圆形及卵圆形,染色质细腻,核仁不清楚,核轻度异型性,核分裂像不明显。免疫组织化学结果显示：所有3例样本CK(+)、CK7(+)、S100(–)、E-cadherin(–)、GCDFP 15(+)、CD68(–)。其中1例进行了HER2 FISH检测,结果为阴性。结论：组织细胞样乳腺癌是一种少见的特殊类型乳腺癌,在日常的诊断工作中,需结合免疫组织化学检查,以便排除其它肿瘤的可能性和明确诊断。     

骰骨原发性Rosai-Dorfman病1例并文献复习

目的探讨Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理学特征、免疫表型、分子表型、鉴别诊断及预后。方法回顾性分析1例原发于骰骨RDD的临床病理学特征,并复习相关文献。结果患者女性,49岁,因左足疼痛5个月余,加重1个月入院。影像学检查示骰骨溶骨性破坏,局部皮质变薄。临床特点和影像学表现缺乏特异性,病理检查可明确诊断。病灶穿刺活检病理检查,结果显示,骨小梁之间可见多量组织细胞混合不同数量的淋巴细胞和浆细胞,组织细胞胞质嗜酸性,胞质内吞噬数量不等、形态完整的淋巴细胞、浆细胞和中性粒细胞;免疫表型:CD163、S-100、溶菌酶(Lysozyme)、α1-抗胰凝乳蛋白酶(α1-antichymotrypsin,AACT)均阳性,CD1a及Langerin均阴性,结合临床及免疫表型,考虑为RDD。后患者再次入院行病灶刮除植骨,术中冷冻及其剩余组织均支持RDD诊断。患者术后3个月复查未见病变复发。结论 RDD是一种自限性疾病,临床表现复杂多样,发生于骨的RDD以溶骨性破坏为主,临床及影像学表现无特异性,易误诊为慢性非特异性炎症性病变、结核、肿瘤等,病理诊断是目前唯一能够确诊RDD的方法,结合临床病理特征及免疫表型有助于诊断;骨RDD以手术切除为主,应适当扩大手术范围,彻底清除病变组织以预防复发。     

长骨炎症性肌纤维母细胞性肿瘤的临床病理观察

目的探讨骨内炎症性肌纤维母细胞性肿瘤(inflammatory myofibroblastic tumor,IMT)的临床病理特征、免疫表型、诊断及鉴别诊断。方法采用HE、免疫组化En Vision两步法染色对4例骨内IMT的临床病理学特征进行分析并复习相关文献。结果 4例IMT中女性1例,男性3例,发生于胫骨、股骨各2例,其中3例同时累及骨及软组织。组织学上由肌纤维母细胞样梭形细胞增生伴浆细胞、淋巴细胞、嗜酸性粒细胞等炎细胞浸润。免疫表型:vimentin、SMA、actin、H-caldesmon、CD34均呈阳性,部分细胞表达CD68。结论 IMT是具有局部侵袭性的交界性肿瘤,临床较罕见,应与一些良性及恶性的软组织肿瘤及肿瘤样病变鉴别。     

伴骨及软骨化生的肺髓脂肪瘤1例

目的:探讨肺髓脂肪瘤的临床病理特点、诊断、鉴别诊断及肿瘤发生的来源。方法:复习1例肺髓脂肪瘤的临床资料,行组织学和免疫组织化学观察。结果:63岁患者CT强化扫描示左肺主支气管内一类圆形不均匀密度肿物,边缘光整。大体检查:肿瘤2 cm×1 cm×0.5 cm大小,切面灰白或灰黄色,质地不均,部分区域质硬如骨样组织。光镜显示:低倍镜见骨小梁组织环形围绕脂肪和造血样组织,局灶可见软骨组织。高倍镜见粒、红、巨核细胞系,三系细胞形态无异常。免疫组织化学染色显示:髓细胞髓过氧化物酶(+),巨核细胞CD61(+)。结论:肺髓脂肪瘤非常罕见,确诊依赖病理学检查,形态学典型,认识该疾病有助于避免临床影像学的误诊。     

Extranodal Rosai–Dorfman disease involving the heart: report of two cases

Sinus histiocytosis with massive lymphadenopathy (Rosai–Dorfman disease) is a rare disease that typically occurs in lymph nodes. While many body sites have been reported to be involved in extranodal manifestations of the disease, the cardiovascular system has been largely absent in this literature. We report two cases of Rosai–Dorfman disease that involves the heart. Case 1 was a 40-year-old man with chronic myelomonocytic leukemia who was incidentally noted to have Rosai–Dorfman disease on autopsy after succumbing to respiratory failure in the setting of adult respiratory distress syndrome. Case 2 was a 57-year-old woman known to have Rosai–Dorfman disease involving mediastinal lymph nodes and found to have a right atrial mass on workup for atypical chest pain. Both cases showed a similar histologic picture of large, multinucleated histiocytes with immunoreactivity to S100, emperipolesis, and marked plamacytosis. This study expands our knowledge of organs involved in extranodal Rosai–Dorfman disease.     

Extranodale Rosai-Dorfman-Erkrankung (Sinushistiozytose mit massiver Lymphadenopathie)

Sinus histiocytosis with massive lymphadenopathy (SHML) was described in 1969 by Rosai and Dorfman as an benign disorder of the lymph nodes. Involvement of extranodal sites by SHML may occur as part of a generalized disease involving lymph nodes as well as independently of the lymph node status. The clinical course is mostly benign and indolent, but in rare cases the SHML can cause death. We report 5 cases of extranodal Rosai Dorfman disease (ENSHML). The lesions were localized in the soft tissue of the extremities, the head and the skeleton. Histopathological examination revealed a lymphoplasmacellular infiltration and numerous histiocytes with an eosinophilic cytoplasma and vesicular nuclei with basophilic nucleoli. The histiocytes showed emperipolesis with multiple lymphocytes within the cytoplasm and occasionally phagocytosis of other inflammatory cells. The histiocytes were immunohistochemically positive for S 100 protein and macrophage-specific antibodies, but in paraffin material negative for CD1a. We briefly discuss aspects of differential diagnosis of this lesion, too.     

Isolated intracranial Rosai Dorfman disease masquerading as meningioma: a case report

Isolated intracranial Rosai Dorfman disease (sinus histiocytosis with massive lymphadenopathy) is rare. We present a 26-year-old male who presented with left focal motor seizures becoming secondarily generalized of one-year duration. Clinically and radiologically patient was diagnosed to have a right parietal convexity meningioma. However on histopathological examination a final diagnosis of intracranial Rosai Dorfman disease was rendered.     

Intraosseous Rosai‐Dorfman disease diagnosed by touch imprint cytology evaluation: A case series

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.     

Sinus histiocytosis with massive lymphadenopathy--a review of seven cases

Sinus histiocytosis with massive lymphadenopathy (SHML) also called as Rosai Dorfman disease is a rare histiocytic proliferative disorder of unknown etiology. Histological features currently define it. Persistent painless lymphadenopathy due to expansion of sinuses infiltrated with benign histiocytes and plasma cells and emperipolesis are the characteristic features of SHML. Our study includes seven cases (5 nodal and 2 extranodal) of SHML over a 5-year period whose slides and blocks were reviewed. IHC was performed on the main lesion, from a panel of S100, CD68, LCA, CD20, CD3, CD30, CD43, bcl2, cytokeratin and epithelial membrane antigen. In our series we have work up available in 7 cases out of which a detailed follow-up is available in 5 patients. Out of these 5 patients, 4 have a stable disease, while one developed histiocytic sarcoma after a gap of four years.     

Erdheim‐Chester disease with prominent pericardial effusion

Erdheim‐Chester disease (ECD) is a rare, non‐Langerhans form of histiocytosis of unknown origin with distinct clinicopathologic and radiographic features. Reports detailing the cytology of ECD are rare. We describe a case of ECD with pericardial effusion. Cytologic examination revealed a hypercellular specimen composed of clusters and singly dispersed foamy macrophages with round nuclei and inconspicuous nucleoli, admixed with lymphocytes, eosinophils, and Touton‐type multinucleated giant cells. Immunostains for CD68 were strongly positive in the foamy macrophages while S100 and CD1a were negative. The presence of foamy histiocytes, multinucleated giant cells, lymphocytes and eosinophils are also features of other systemic histiocytic disorders, including Langerhans cell histiocytosis (LCH), Rosai‐Dorfman disease (RDD) and sarcoidosis. To the best of out knowledge, this is the first report describing the cytological features of ECD in a pericardial effusion. Diagn. Cytopathol. 2014;42:530–534. © 2013 Wiley Periodicals, Inc.     

Nodal Langerhans cell histiocytosis with prominent eosinophilic emperipolesis

Multinucleated giant cells of osteoclastic type are known to occur in nodal and extranodal lesions of Langerhans cell histiocytosis (LCH). These giant cells are thought to be derived from phagocytic histiocytes, which correlate with the degree of necrosis in LCH lesions. Emperipolesis commonly seen in Rosai–Dorfman disease is a distinct phenomenon characterized by intact phagocytosed cells in an intracytoplasmic vacuole protected from proteolytic digestion. We present a case of emperipolesis of inflammatory cells especially of eosinophils by multinucleated giant cells of Langhans type in a lymph node involved by LCH—a finding that has not been described previously in the literature. Diagn. Cytopathol. 2015;43:1000–1002. © 2015 Wiley Periodicals, Inc.     

Case report of Rosai–Dorfman disease

This case report discusses the presentation of Rosai–Dorfman disease in a 4 year old female patient, who presented with bilateral level V lymphadenopathy of the cervical neck. The histopathology demonstrated numerous histiocytes, with characteristic emperipolesis. No granulomas or necrosis were identified. Micro-organisms were not identified on special stains, nor on culture. The patient was under observation and spontaneous remission occurred after six months.