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.     

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。     

结外Rosai-Dorfman病临床病理特征分析

目的探讨结外Rosai-Dorfman病(Rosai-Dorfman disease, RDD)的临床病理学特征、诊断及鉴别诊断、治疗及预后。方法回顾性分析南京医科大学第一附属医院2014～2019年收治的16例结外RDD的临床和病理资料,并复习相关文献。结果 16例结外RDD中,男性10例,女性6例,年龄12～69岁,平均年龄46.6岁。发病部位:鼻腔鼻窦4例、乳腺2例、腰部及前臂皮肤2例、骨2例,腮腺、肩部皮下、颞部软组织、眼球巩膜、颊黏膜、额部脑膜各1例。镜检:可见大组织细胞、淋巴细胞和浆细胞弥漫片状分布,低倍镜下呈典型的明暗相间结构,大组织细胞内可见伸入现象,部分病例间质内可见显著的纤维结缔组织反应及席纹状排列结构。免疫表型:组织细胞中S-100、CD68和CD163均阳性,CKpan、CK8/18、CD1a、Langerin、CD30和ALK均阴性,Ki-67增殖指数为1%～10%;背景淋巴浆细胞表达各自相应标志物:CD3、CD20、CD45、CD38和CD138均阳性。8例患者获得随访资料,随访6～58个月,肿块切除后均未复发。结论结外RDD相对罕见,临床表现不具特异性,部分病例具有非典型组织学形态,易误诊。熟悉并掌握其较为广谱的临床病理学谱系并结合S-100蛋白染色可将其与其它类似病变相鉴别。     

中枢神经系统Rosai-Dorfman病4例临床病理分析

目的探讨中枢神经系统Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理特点、免疫表型、诊断及鉴别诊断、治疗及预后。方法回顾性分析2011年~2018年南京医科大学附属脑科医院诊治的4例中枢神经系统RDD的临床病理资料并复习相关文献,其中2例曾误诊为富于淋巴浆细胞型脑膜瘤。结果4例RDD中男性2例,女性2例,平均年龄48.75岁。镜下见病变组织细胞混合淋巴细胞、浆细胞成分呈结节状浸润,伴有纤维化或胶原化背景。组织细胞中可见典型的“伸入运动”,即胞质内可见吞噬的淋巴细胞、浆细胞及红细胞。免疫表型:组织细胞S-100、CD68、vimentin阳性,CD1a、BRAF V600E阴性,IgG4/IgG比值均<40%。结论中枢神经系统RDD是一种罕见的良性组织细胞增生性疾病,临床及影像常误诊为脑膜瘤。因此要提高对此类病变的认识,做出正确诊断,防止误诊。     

肺Rosai-Dorfman病1例

Rosai-Dorfman病是一种少见的良性组织细胞增生性疾病, 多发生于淋巴结, 原发于肺孤立性Rosai-Dorfman病十分罕见, 本文报道1例32岁男性, 体检发现右肺下叶结节行右中下肺叶切除术, 右下叶支气管根部见肿块, 大小4.0 cm×3.5 cm×2.5 cm, 灰白灰黄色, 质硬, 界尚清。低倍镜下见肺组织结构破坏, 淡染区和深染区明暗相间分布。高倍镜下见淡染区主要为体积增大的组织细胞呈簇状分布, 胞质淡染嗜酸性或空泡状, 胞质内可见吞噬一至数枚形态完整的淋巴细胞。深染区主要是成熟的浆细胞和淋巴细胞。免疫组织化学组织细胞S-100蛋白、CD68及CD163阳性。分子检测KRAS基因G12D突变。术后随访21个月无复发。肺Rosai-Dorfman病术前常被误诊为肺癌, 病理诊断需要与多个疾病鉴别, 免疫组织化学S-100蛋白对正确诊断有帮助。     

耳鼻咽喉头颈部结外Rosai-Dorfman病临床病理特征

目的探讨耳鼻咽喉头颈部结外Rosai-Dorfman病的临床病理学特征、诊断及鉴别诊断。方法收集北京同仁医院5例耳鼻咽喉头颈部结外Rosai-Dorfman病例,并行常规HE、组织化学和免疫组化染色。结果患者年龄37～72岁,平均49岁。5例中原发于喉2例,原发于鼻腔2例,原发于鼻翼皮肤1例。组织病理学特征:①低倍镜下为上呼吸道黏膜下或皮肤真皮内肿瘤细胞弥漫浸润,呈不同程度淡染区和深染区相间交错;②高倍镜下窦组织细胞增生,伴有不同程度其它慢性炎症细胞浸润,可见"伸入现象",病变特征不如结内病变明显;③免疫组化染色结果显示窦组织细胞S-100和CD68阳性,CD1a、CD20、CD45RO阴性。结论耳鼻咽喉头颈部发生的结外Rosai-Dorfman病是一种少见的组织细胞增生性疾病,有特定的组织病理学特征,在诊断上需要和该部位的其他肿瘤和炎性病变鉴别。     

淋巴结外Rosai-Dorfman病

目的探讨淋巴结外Rosai-Dorfman病的病理学特征、诊断及鉴别诊断。方法对2例结外Rosai-Dorfman病行HE和免疫组织化学(EnVision^TM)染色观察。结果光镜下见病灶内深浅不一结节状区域,浅染区体积较大的组织细胞,呈多边形或椭圆形,其直径为淋巴细胞的10—30倍左右,胞质丰富,淡嗜酸性,核膜光滑,有小的嗜碱性核仁,部分组织细胞之胞质内见较多淋巴细胞、浆细胞等,组织细胞表达S-100蛋白。结论结外Rosai-Dorfman是一种少见的组织细胞增生性病变,有一定的病理学特征。应与幼年性黄色肉芽肿、纤维组织细胞瘤、Langerhans组织细胞增生症、网状组织细胞瘤以及慢性炎症性病变等鉴别。     

骨内原发Rosai-Dorfman病14例临床病理学分析

目的探讨骨内原发Rosai-Dorfman病(Rosai-Dorfman disease, RDD)的临床病理学特征、免疫表型、分子表型特征及鉴别诊断思路。方法回顾性分析2009年1月至2019年1月就诊于北京积水潭医院的14例骨内原发RDD确诊病例, 采用免疫组织化学EnVision法检测S-100蛋白、cyclin D1、CD1a、CD207等蛋白表达情况;采用蝎形探针扩增突变系统(ARMS)荧光定量PCR检测BRAF V600E和KRAS基因突变情况。结果 14例RDD中女性6例, 男性8例, 年龄2～64岁, 平均年龄31.4岁。14例均为不伴淋巴结病变的骨内原发病灶, 1例为伴椎体和鼻腔累及的多发病变。骨内RDD影像学全部为溶骨性, 常伴有硬化缘。光镜下病变破坏骨小梁, 可见明暗相间结构, 组织细胞增生伴伸入现象, 部分病例背景纤维化显著, 淋巴细胞或浆细胞弥漫浸润, 多发病变的病灶中浆细胞显著增多, 并可见血管炎。其中罕见1例为RDD和Langerhans组织细胞增生症(Langerhans cell histiocytosis, LCH)同时存在, 可见Langerhan...     

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。     

累及骨和软骨Rosai–Dorfman病2例报告并文献复习

目的:探讨2例累及骨和软骨的结外罗道(Rosai–Dorfman)病的临床病理特征、诊断及鉴别诊断。方法:复习分别位于右胫骨近端及甲状软骨的2例Rosai–Dorfman病患者的临床和影像学资料,行组织学观察及免疫组织化学分析,并复习相关文献。结果:39岁女性,右胫骨占位及38岁男性,甲状软骨肿物。影像学示前者右胫骨上段溶骨性骨质破坏;CT示后者甲状软骨前实性占位,与甲状软骨界限不清。光镜下前者病变在破碎骨小梁间生长,后者病变包绕并侵犯甲状软骨,并在软骨化骨骨小梁间侵袭性生长。低倍镜下组织细胞显著增生,与浸润的淋巴细胞、浆细胞形成明暗相间的结构,部分组织细胞体积较大,呈多边形或椭圆形;胞浆淡嗜酸性或空亮,泡状核,可见小核仁;部分胞浆内见吞噬完整的淋巴细胞和(或)浆细胞、中性粒细胞等。免疫组织化学标记组织细胞表达S–100蛋白和CD68,不表达CD1a。结论:累及骨和软骨的Rosai–Dorfman病罕见,临床及影像学检查均容易误诊。组织学形态及免疫组织化学检查是确诊的唯一依据。     

Rosai-Dorfman disease of the breast: a mimic of breast malignancy

Rosai-Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy (SHML) is primarily a nodal-based, idiopathic, benign proliferative disorder of histiocytes with 43% of these cases also involving extranodal sites. The breast is an unusual site of occurrence of RDD. We report two cases of this exceptional event. The first represents an intramammary nodal Rosai-Dorfman disease, while the second is an extranodal disease with sole involvement of the breast. In both, the possibility of malignancy was raised. Histological examination of the two breast lesions revealed sheets of characteristic large histiocytes displaying emperipolesis, a microscopic hallmark of this disease. Immunohistochemical and ultrastructural studies were also performed; the former showed cytoplasmic staining of histiocytes for S-100 protein, while histiocytes that engulfed lymphocytes and plasma cells were identified on electron microscopy.     

Extranodal Rosai-Dorfman disease involving appendix and mesenteric nodes with a protracted course: report of a rare case lacking relationship to IgG4-related disease and review of the literature

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare disease of unknown etiology that typically presents as nodal disease in young children. However, it also can present in various extranodal sites and can be difficult to recognize if not considered in the differential diagnosis. Here, we report a case of appendix involvement by extranodal RDD, which occurred in a 69-year-old woman with a long duration of 12 years for intermittent right lower quadrant pain. The patient underwent a right hemicolectomy for a clinical diagnosis of appendiceal cancer. A mixed inflammatory infiltration of mature lymphocytes, plasma cells and histiocytes exhibiting emperipolesis were indentified. Other areas had storiform fibrosis and sclerosis admixed with numerous plasma cells. These histologic features combination with immunoreactivity for CD68 and S100 protein were indicative of a diagnosis of extranodal RDD. We discuss the clinical, pathologic findings as well as differential diagnoses and consideration of a possible relationship of this entity to IgG4-related lesion.     

Rosai-Dorfman病的临床病理、免疫表型和病原学观察

目的观察Rosai—Doffman病的临床病理特征,探讨多种抗原标记的免疫表型及HHV8-DNA、HPV—DNA和EBER的表达及其与病因的关系,并比较国内外Rosm—Doffman病的发病特征。方法对16例Rosm-Doffman病进行临床病理回顾性研究;9例行免疫表型检测,包括CD163、CD68（PG—M1）、CD21、CD1a、CD20、CIMSRO、CD8、CIM、S100、M—CSF和HHV8;用原位杂交技术进行EBV—mRNA和HPV—DNA检测。结果（1）男女之比为4．33：1。只有淋巴结病变的占62．5％（10／16）,颈淋巴结多见,50％的病例有多部位淋巴结累及;结外病变占37．5％（6／16）。结外病变者的局部复发率较高。（2）淋巴结病变以明显扩张的淋巴窦内有不等量体积大、多角形、胞质内含有淋巴细胞和浆细胞的组织细胞为特征;结外病变均有不同程度纤维组织增生和以浆细胞为主的混合炎细胞浸润,胞质内含有淋巴细胞和浆细胞的大多角形组织细胞数量多寡不一,呈簇状或散在分布,且随病程进展,纤维组织的量渐多,特征性组织细胞数量渐少。（3）病变组织中大多角形组织细胞均表达S—100蛋白,以及CD68PG—M1、CD163和M—CSF,均不表达CD1a和CD21;组织细胞吞入的有T和B细胞,以T细胞为多,且CIM和CD8表型细胞均有。9例均为HHV8和EBEV阴性。（4）国内报道共62例,其中仅淋巴结病变34例,仅结外病变18例,淋巴结和结外同时存在病变10例。比较国内外文献,国外患者年龄较国内的年轻10岁以上,且女性比例较高。结论Rosai—Dofman病在国内较少。结外Rosai—Dorfman病的诊断有一定难度。HHV8-DNA、HPV—DNA和EBER的表达与病因关联不明确。国内外患者的发病年龄和性别构成不同。     

Rosai-Dorfman disease of the pericardium: a case report and review of literature

Rosai-Dorfman disease (RDD) is an uncommon histiocytic disease of unknown etiology. It typically presents as massive lymphadenopathy with a predilection for the cervical lymph nodes of children and young adults. However, extranodal involvement is not uncommon and may cause confusion with other neoplasms or reactive disease. We describe here a unique case of extranodal RDD manifesting as a pericardial mass in a 69-year-old man. The lesion was detected by computed tomography during a periodic examination of the chest. Subsequently positron emission tomography scan showed mild increase of flurodeoxyglucose uptake. Clinically, it was supposed to be a mesothelioma. Histological examination showed the typical features of RDD confirmed by the staining of S100 protein, which highlighted the emperipolesis of the characteristic histiocytes. To the best of our knowledge, pericardial RDD represents an extremely rare condition and should be included in the differential diagnosis of pericardial neoplasms.     

Fine-needle aspiration cytology of Rosai-Dorfman disease of bone

Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) is a rare, benign self-limiting condition of unknown etiology. Less than a quarter of cases have only extranodal involvement and a few cases of skeletal involvement of Rosai-Dorfman disease without associated lymphadenopathy have been reported in the literature. We herein report cytohistologic findings in a case of sole skeletal Rosai-Dorfman disease in a 51-year-old woman who presented with an expansile, heterogeneous lesion at T11 with cord compression and edema. A CT-guided fine-needle aspiration of T-11 lesion was performed and the sample was processed by ThinPrep technique. The ThinPrep smear showed characteristic features of Rosai-Dorfman disease including hypercellularity with moderate number of histiocytes in a background of lymphocytes, plasma cells, and neutrophils. The histiocytes possessed abundant, pale and vacuolated cytoplasm, rounded nuclei with smooth nuclear membranes, fine chromatin, and distinct nucleoli. The histiocytes showed emperipolesis of lymphocytes and neutrophils. The diagnosis was confirmed by concurrent biopsy with immunhistochemical study. Our case highlighted the role of fine-needle aspiration with ThinPrep technique in the diagnosis of Rosai-Dorfman disease.     

上呼吸道结外Rosai-Dorfman病临床病理学观察

目的 探讨上呼吸道结外Rosai-Dorfman病的临床病理特征及鉴别诊断.方法 采用光镜及免疫组织化学LSAB法结合临床资料,对10例发生于上呼吸道的结外Rosai-Dorfman病进行临床病理学分析.结果 10例患者中,男性3例,女性7例,发病年龄20 ～61岁,平均38岁.肿瘤分别位于鼻腔鼻窦(7例)、鼻咽(2例)和硬腭气管(1例).患者多以鼻塞、鼻衄或鼻腔鼻咽新生物就诊.CT显示鼻腔鼻窦等相应部位占位性病变,无骨质破坏.组织学显示肿瘤由相互交错的淡染区与暗染区组成,淡染区见大圆形或多边形的组织细胞,部分组织细胞见吞噬现象;暗染区由聚集的淋巴细胞和浆细胞组成.免疫组织化学染色显示组织细胞弥漫强阳性表达S-100蛋白,部分表达CD68等.随访6例,经手术治疗均健在,无复发.结论 上呼吸道结外Rosai-Dorfman病较为少见,多发生于鼻腔鼻窦,形态学上易与鼻硬结病相混淆,常需免疫组织化学染色加以鉴别.     

Parvovirus B19 detected in Rosai-Dorfman disease in nodal and extranodal manifestations

Sinus histiocytosis with massive lymphadenopathy (SHML), also designated as Rosai-Dorfman disease (RDD), is a rare benign reactive lymphoproliferative disorder. It is defined by a characteristic histopathology with sinus histiocytosis and haemophagocytosis known as emperipolesis. In histiocytes S100 is strongly expressed, whereas CD1a staining typically is negative. The disease mainly manifests at a single lymph node; however, multilocular and extranodal affection can occur. Causative infectious agents, and virus infections in particular, have repeatedly been suspected, although until now the origin of the disease has been unclear. Four cases of RDD (two nodal sites and two extranodal upper respiratory tract sites) were analysed for parvovirus B19 (B19) infection by immunohistochemistry to detect B19 capsid proteins VP1/VP2. In all the four cases, huge numbers of B19-positive cells were partly detected. The positive cells were identified either as lymphocytes or, in one extranodal case, also as respiratory epithelial cells. This is the first report of B19 infection in RDD tissue, indicating that B19 may be associated with the pathogenesis of SHML.     

Cutaneous Rosai-Dorfman disease with increased number of eosinophils: coincidence or histologic variant?

Rosai-Dorfman disease (RDD) is characterized histologically by a dense histiocytic infiltrate with emperipolesis and associated lymphocytes, plasma cells, and neutrophils. Eosinophils are not commonly associated. We report a patient with initial thymus and pituitary gland involvement by RDD, who later developed papules on the groin and axilla. Skin biopsies showed admixed histiocytic infiltrates (lymphocytes, neutrophils, and plasma cells) without emperipolesis. A prominent eosinophilic infiltrate was also observed, a feature not, to our knowledge, previously reported. Immunohistochemistry revealed positivity for CD68 (most cells) and S100 protein (scattered cells) and was negative for anti-CD1a. The diagnosis of RDD was established in the clinical context after comparison with the thymic and pituitary lesions (similar histologic features, albeit with fewer eosinophils, and immunohistochemical profiles). We present the first case, to our knowledge, of multicentric RDD with cutaneous involvement and associated prominent eosinophilic infiltrate. Thus, RDD should be included in the differential diagnosis of mononuclear infiltrates containing eosinophils.