肺淋巴管平滑肌瘤病临床病理学观察

目的 探讨肺淋巴管平滑肌瘤病（pulmonary lymphangioleiomyomatosis,PLAM）的临床病理及影像学特点,提高对该病的认识。方法 对7例PLAM患者的临床特点、肺功能改变、影像学及病理学检查进行回顾性分析,并采用免疫组化方法检测podoplanin、α—SMA、HMB-45、ER、PR、PCNA的表达状况。其中1例患者死后行尸体解剖,对其全身各脏器进行病理组织切片观察。结果 PLAM几乎均发生于育龄期妇女,主要临床症状为进行性呼吸困难、反复气胸及乳糜胸。肺部高分辨率CT（HRCT）显示典型的弥漫性薄壁囊状阴影。病理检查显示未成熟平滑肌细胞在细支气管壁、肺泡壁、淋巴管壁和血管壁周围增生,形成结节状。1例尸解病例除肺部病变外,PLAM病变尚累及肾脏、淋巴结、肠道、胆囊、子宫及软组织等部位,病变的发生与血管及淋巴管密切相关。免疫组化染色显示7例增生PLAM细胞内α-SMA、HMB-45及podoplanin均呈强阳性表达,4例ER及PR均阳性,2例仅ER阳性,1例ER及PR均阴性。结论 PLAM常累及全身多个系统,但肺是主要累及的器官。目前研究推测其为良性转移性疾病,尚无有效治疗方法。育龄期妇女如出现进行性呼吸困难、气胸、乳糜胸及HRCT表现为弥漫小囊状改变时,应考虑到PLAM可能,确诊需行肺活检病理学检查。     

肺淋巴管肌瘤病的临床病理分析

目的 探讨肺淋巴管肌瘤病（pulmonary lymphangioleiomyomatosis,PLAM)的发病特点、临床病理特征及预后.方法 对7例PLAM进行临床资料分析、组织形态观察及免疫组化研究,并复习相关文献.结果 7例均为女性,临床表现为进行性呼吸困难、自发性气胸,X线及CT示双肺弥漫性、多发性小囊肿,镜下见异常平滑肌样细胞围绕支气管、血管和淋巴管分布,并向周围延伸;HMB-45、SMA、ER和PR可均阳性.结论 PLAM是一种罕见的肺疾病,以平滑肌细胞样的异常增生及浸润为特点,根据临床和组织形态特点,结合免疫表型可确诊,HMB-45对该病具有诊断意义.     

肺淋巴管平滑肌瘤病临床病理特征观察及文献复习

目的探讨肺淋巴管平滑肌瘤病(pulmonary lymphangioleiomyomatosis，PLAM)组织学、免疫组化及预后特点。方法对2例PLAM经支气管肺活检组织，进行组织学观察及免疫组化检测，并复习文献进行研究。结果2例PLAM均为育龄期女性。本病具有一定的形态学和免疫组化特征，肺淋巴管、血管和小气道周围异常平滑肌细胞弥漫性增生，分两种类型：囊肿为主型和平滑肌为主型。2例组织形态学相似，异常平滑肌细胞呈梭形，多边形及上皮样，核大，不规则多形性，可见核仁和核内包涵体，未见核分裂象。免疫组化梭形、多边形及上皮样细胞表达HMB45、SMA、actin和ER、PR阳性。结论PLAM是罕见的肺慢性进行性恶化的肿瘤性疾病。PLAM病理组织学评分(LAM histologic score．LHS)是评价PLAM预后的指标。依据临床和组织学特点，结合免疫组化染色可以作出明确诊断。     

肺淋巴管平滑肌瘤病临床病理学观察

目的 探讨肺淋巴管平滑肌瘤病临床、病理特征。方法 对5例肺淋巴管平滑肌瘤病临床资料进行收集分析,HE切片观察,采用免疫组织化学(SP法)检测平滑肌肌动蛋白(SMA)、HMB45、基质金属蛋白酶(MMP)2、孕激素受体(PR)、雌激素受体(ER),并进行文献复习。结果 肺淋巴管平滑肌瘤病是原因不明的肺部疾病,只发生在女性,特别是绝经前妇女。临床表现为呼吸困难,咯血,气胸和乳糜胸等。病理学检查显示不同成熟度平滑肌细胞在细支气管壁、肺泡壁、淋巴管壁和血管壁周围增生,肺实质呈囊性变。增生的平滑肌细胞免疫组织化学5例SMA、HMB45、MMP2均阳性;1例的ER和PR均阳性,1例仅ER阳性,1例仅PR阳性,1例的ER和PR均阴性。结论 育龄期妇女如反复出现自发性气胸、咯血、活动后呼吸困难应考虑肺淋巴管平滑肌瘤病的可能,病理检查可确定肺淋巴管平滑肌瘤病的诊断。     

淋巴管肌瘤病10例临床病理分析

目的探讨淋巴管肌瘤病(lymphangiomyomatosis,LAM)临床、病理特征。方法收集10例LAM临床资料进行分析,复习HE切片,采用免疫组化EnVision法检测α-SMA、HMB-45、D2-40、PR、ER,并进行文献复习。结果女性9例,年龄17～53岁,平均39岁,男性1例,年龄19岁,6例影像考虑为肺LAM,胸部CT平扫+高分辨显示:双侧肺野内可见弥漫型分布大小不一小囊样透过度增高影,9例有乳糜胸水或腹水。1例纵隔肿物,4例腹膜后肿物,上腹部CT平扫+增强+三维重建显示:腹膜后可见多个囊状低密度影。4例左锁骨上淋巴结肿大,1例肠系膜淋巴结肿大,1例腹主动脉旁淋巴结肿大,1例腹股沟淋巴结肿大。病理学检查显示淋巴管周围不同成熟度平滑肌细胞和上皮样细胞增生。免疫组织化学显示10例LAM增生的细胞均表达α-SMA和D2-40,其中8例HMB-45阳性,5例PR阳性,3例ER阳性。结论组织学形态结合临床、影像及免疫组化染色(D2-40、HMB-45、SMA)可确定LAM的诊断。     

淋巴管平滑肌瘤病2例临床病理学分析

目的探讨淋巴管平滑肌瘤病(lymphangioleiomyoma-tosis,LAM)临床、影像、病理特征及预后特点。方法对发生于纵隔及合并肺癌的2例LAM的临床资料、组织学及免疫表型进行分析,并复习相关文献。结果 LAM发病原因尚不明确,好发于育龄期女性。病变的发生与淋巴管和血管密切相关,不同发病部位临床症状各不相同。显微镜下示淋巴管、血管壁周围可见不同成熟度的平滑肌细胞弥漫性异常增生,肿瘤细胞可呈梭形或上皮样。免疫表型:梭形肿瘤细胞desmin和SMA阳性,HMB-45和MELAN-A阴性。结论LAM是一种罕见的慢性、进行性恶化的肿瘤性疾病,常累及全身多个系统,肺是主要累及的器官。依据临床症状、影像学和组织学特点再结合免疫表型可明确诊断。     

肝脏血管平滑肌脂肪瘤9例临床病理分析

目的探讨肝脏血管平滑肌脂肪瘤(hepatic angiomyolipoma,HAML)的临床病理特点、诊断及鉴别诊断。方法对9例HAML进行临床病理学观察与免疫组化标记及复习有关文献。结果 9例HAML年龄28～56岁,平均44.2岁,均无结节硬化症。术前影像诊断多数为肝癌。眼观:肿瘤直径1.2～14 cm。肝左叶4例、肝尾状叶3例和肝右叶2例。肿瘤境界清楚,无包膜,质地脆、易碎,可见出血、坏死。镜检:瘤组织由上皮样细胞、平滑肌样细胞、脂肪组织和厚壁血管组成。上皮样细胞体积大或巨大,呈多边形,胞质丰富,嗜酸性或空泡状,核仁明显,可见核内包涵体,偶见多核巨细胞。平滑肌样细胞呈梭形,9例中有4例几乎缺如脂肪组织。瘤细胞弥漫性或巢团状排列。瘤组织出血、坏死明显,呈浸润性边缘。免疫组化标记:瘤细胞HMB-45及Melan-A阳性,SMA和vimentin散在阳性,CK、EMA、AFP均阴性。结论 HAML是一种罕见的间叶组织源性肿瘤,多见于女性,组织学上以单一方向分化的大上皮样细胞为主,瘤细胞较为特异的表达HMB-45及Melan-A。免疫组化标记可与其它肝脏肿瘤鉴别。     

肺淋巴管瘤病11例临床病理分析

目的探讨肺内淋巴管瘤病的临床病理特征、诊断及鉴别诊断。方法对11例肺内淋巴管瘤病的临床病理资料、HE染色和免疫表型进行分析,并复习相关文献。结果11例患者中男性5例,女性6例,年龄41~79岁,平均58.6岁,中位年龄59岁。病变均发生于外周肺并与胸膜相关,表现为胸膜下结节,肿瘤直径0.7~4.2 cm,平均1.4 cm。镜下见肿瘤细胞呈迷路样、吻合状,衬覆扁平内皮细胞的淋巴管裂隙自胸膜向肺实质内蔓延、侵袭,呈多灶性生长,肿瘤大小超过影像学所见;裂隙周围间隔内散在或多或少的发育不完全的管壁平滑肌束、胶原及淋巴细胞;同时可见细支气管肺泡增生、微结节性平滑肌增生、肉芽肿及神经内分泌细胞增生等继发病变;增生肺泡腔内常见含铁血黄素巨噬细胞。免疫表型:淋巴管内皮D2-40及CD31均阳性,TTF-1阴性;平滑肌desmin阳性,HMB-45及Melan-A均阴性。结论肺内淋巴管瘤病是以淋巴管增生弥漫浸润肺实质为特征的少见病变,需与淋巴管肌瘤病、肺水肿及相关继发病变鉴别;以外周肺结节为表现的局限性淋巴管瘤病手术治疗效果较好。     

肾脏上皮样型血管平滑肌脂肪瘤临床病理分析

目的 探讨肾脏上皮样型血管平滑肌脂肪瘤(EAML)的临床病理特点及诊断与鉴别诊断.方法 通过对3例EAML临床病理学观察与免疫组化标记及复习有关文献,讨论其组织学特征及临床生物学行为.结果 3例年龄分别为28、40和32岁,均有腰痛病史,其中1例伴有肉眼血尿,均无结节硬化症.眼观:肿瘤位于肾脏,直径大小分别为6 cm、8 cm和3 cm.3例境界清楚,例2伴囊性变.肿瘤无包膜,2例出血、坏死明显,质脆或韧.镜检:瘤细胞体积大或巨大,呈多边形,胞质丰富,嗜酸性或空泡状,核仁明显,可见核内包涵体,多核巨细胞散在其中.瘤细胞弥漫性或巢团状排列.2例瘤组织出血、坏死明显,呈浸润性边缘.3例未见典型AML图像.免疫组化染色显示瘤细胞HMB-45阳性,SMA和vimentin散在性阳性,CK、EMA和CD10均阴性.结论 EAML是一种单一方向分化的,含有大上皮样细胞的肿瘤,瘤细胞较为特异的表达HMB-45.辅以免疫组化可以与其它肾脏肿瘤相鉴别.     

原发性小肠淋巴管扩张症2例并文献复习

目的探讨小肠淋巴管扩张症的临床表现,诊断、治疗及预后等。方法2例患儿除一般的血清学、尿液、超声心动图、腹部B超和腹部CT等检查外,均接受胃镜和（或）小肠镜检查并取黏膜行病理活检。结果例1,5岁发病,以反复水肿起病,小肠镜检查发现空肠、回肠弥漫性白色粟米样改变,病理提示肠黏膜固有膜内及黏膜肌层内可见到较多扩张淋巴管,淋巴管内皮细胞增生不明显。例2,5月龄发病,以水肿、腹泻起病,胃镜检查发现十二指肠黏膜弥漫性白色粟米样改变,正常绒毛结构消失,病理提示个别绒毛黏膜内可见轻度扩张淋巴管。2例患儿均除外引起小肠淋巴管扩张的继发性因素,结合起病年龄小,考虑原发性小肠淋巴管扩张症,其中例1诊断为小肠弥漫性淋巴管扩张。这2例患儿通过中链三酰甘油乳剂治疗后,随访症状明显缓解。结论小肠淋巴管扩张症在儿童中可能并不少见。对于反复低蛋白血症、反复水肿或慢性腹泻的患儿要警惕原发性小肠淋巴管扩张症,应尽早行内镜及病理活检,并通过特殊的饮食控制疾病。     

Lymphangioleiomyomatosis associated with pulmonary metastasis from an occult papillary carcinoma of the thyroid: report of a case occurring in a patient without tuberous sclerosis

We report on 50-year-old woman without tuberous sclerosis, presenting with recurrent spontaneous pneumothorax. A CT-scan of the chest showed multiple, bilateral, thin-walled cysts, consistent with pulmonary lymphangioleiomyomatosis. A videothoracoscopic lung biopsy confirmed the diagnosis of lymphangioleiomyomatosis, but revealed also a micrometastasis from an occult papillary carcinoma of the thyroid gland. The main histologic differential diagnosis and the possible correlation between lymphangioleiomyomatosis and thyroid diseases are briefly discussed.     

强直性脊柱炎并发肺大疱、气胸的胸部高分辨率CT特征及诊治体会

目的 探讨强制性脊柱炎(AS)并发肺大疱、气胸的胸部高分辨率CT(HRCT)特征,以提高临床对该症的诊治水平。方法 回顾性分析2008年7月—2015年7月福建省厦门市第三医院呼吸一科收住的8例AS并发肺大疱、气胸患者的临床资料,着重观察其胸部HRCT特征,同时对其误诊情况及治疗及预后情况进行分析。结果 胸部HRCT提示:8例均有双肺尖纤维化、双肺多发巨大型肺大疱,其中5例肺大疱破裂并发气胸;矢状位多平面3D重建显示,8例均有胸椎曲度变直、椎体增生呈竹节样改变。8例均合并肺部感染(合并感染时胸部HRCT显示两下肺斑片实变影),其中3例为重症感染;5例治愈,1例好转,2例死亡。结论 对于胸部HRCT表现为双肺巨大型肺大疱和/或气胸,同时又有中轴关节炎症等表现的中老年患者,要注意对AS的筛查。治疗主要是对症处理,单纯气胸经过胸腔闭式引流后多能治愈,预后主要取决于肺部感染及心肾等器官功能损害的严重程度。     

Mesenchymal cystic hamartoma of the lung

Mesenchymal hamartomatous nodules and cysts in the lungs caused hemoptysis, pneumothorax, hemothorax, pleuritic chest pain, dyspnea of slight or moderate degree, or a combination of these signs and symptoms in five patients. In four cases the disease was multifocal and bilateral. The nodules were composed of primitive mesenchymal cells subdivided into papillae by a plexus of small airways lined with respiratory epithelium. The nodules grew slowly in number and size over the years and apparently became cystic when they reached a diameter of about 1 cm. The cysts had a cambium layer of mesenchymal cells and were lined with normal or metaplastic respiratory epithelium. In general, the disease had an indolent course. The most serious complications were sudden hemorrhage into a cyst from large systemic arteries supplying the walls of the cysts, pneumothorax or hemothorax from rupture of a subpleural cyst, and malignant transformation in one case. This disease appears to represent a distinct clinicopathological entity, which I term mesenchymal cystic hamartoma of the lung.     

系统性硬化症肺部受累的胸部高分辨力CT表现特点分析

目的分析系统性硬化症（SSc）肺部受累时胸部高分辨力计算机体层摄影术（HRCT）表现,提高对SSc肺部损害的认识。方法选择2009年1月~2012年6月明确诊断的45例SSc患者,其中男性9例,女性36例;年龄为20~80岁,平均年龄58.50岁。回顾其胸部HRCT表现,并进行HRCT评分,对其胸部HRCT特点进行总结分析。结果胸部HRCT证实,存在间质性肺疾病患者为32例（71.1%）,其中34.4%患者（11/32）无呼吸系统症状。SSc肺部受累在HRCT图像上以磨玻璃影（81.3%）和网格影（56.3%）最为常见,分布以双下肺（71.9%）及胸膜下分布（81.3%）为主。对两侧的上中下肺野的HRCT评分进行t检验发现双侧病变差异无统计学意义（P〉0.05）,呈对称性分布。对上中下肺野的HRCT评分进行两两比较,下肺野受累最明显,中野次之,上野受累最少（P〈0.05）。在存在肺间质受累的患者中,弥漫型患者的HRCT评分（8.82±5.56）与局限型患者的评分（8.73±5.61）间差异无统计学意义（P〉0.05）。肺外胸部脏器受累包括肺动脉增宽、胸膜病变、心包积液、纵隔淋巴结肿大、食管扩张。肺动脉增宽33.3%（15/45）,弥漫型患者中肺动脉增宽的发生率与局限型患者的发生率差异无统计学意义;有雷诺现象者的肺动脉增宽的发生率高（15/34 vs 0/11;P=0.005）。结论胸部HRCT对SSs的肺、胸膜、食道、肺动脉的评估均有较高价值,其中肺间质受累是最为常见的,对称性分布、双下肺突出的间质性病变为其主要特点。     

CONFIRMATION OF THE DEVELOPMENT OF MULTIPLE RENAL CELL TUMORS IN ENDSTAGE/LONG-TERM HEMODIALYSIS KIDNEY REVEALED TYPICAL ACQUIRED CYSTIC TRANSFORMATION

Histopathological study of the endstage kidney in a 50-year-old male who died after intermittent maintainance hemodialysis for 10 years was reported. At autopsy, both kidneys were contracted and characterized by grossly visible discrete multiple cysts. Histopathological study of consecutive sections of both kidneys revealed that these cysts were distributed throughout a completely disorganized parenchyma and were composed of dysplastic epithelial cells of different types and of structures, some of which revealed neoplastic transformation.     

ACQUIRED CYSTIC DISEASE OF THE KIDNEY AND RENAL CELL CARCINOMA ON LONG TERM HEMODIALYSIS

Four surgical cases of acquired cystic disease of the kidney in the third decade are reported, which include renal cell carcinoma in three patients and multiple adenomas and cystadenomas in all patients. The intervening parenchyma of these kidneys was disorganized as end stage kidney and numerous cysts were found in both kidneys. Some of the cysts were lined by hyperplastic epithelium consisting of clear and granular cells arranged in piled up and papillary fashion. These cysts were diagnosed as cystadenoma. Multiple solid adenomas of a 28-year-old male on hemodialysis for 6 years were of various size as if arranged in developing stage of the growth. Summing up all cases included in the literature, the mean duration of hemodialysis of the cases with renal tumor was 5.2 years, while 2.9 years without tumor. With increase of duration of hemodialysis, acquired cystic disease of the kidney is exposed to a high risk of developing malignancy.     

Lung cysts in Birt-Hogg-Dubé syndrome: Histopathological characteristics and aberrant sequence repeats

Birt-Hogg-Dubé (BHD) syndrome is a rare disorder inherited in an autosomal dominant manner. The affected patients are predisposed to cutaneous fibrofolliculomas, renal cell tumors and lung cysts with recurrent pneumothorax. Contrary to neoplastic events in the skin and the kidney, the lung cysts have frequently been confused with non-neoplastic changes such as blebs or bullae. Herein is reported a case of multiple lung cysts associated with BHD syndrome. Detailed histopathological characteristics of the lesion are also given. The lung cysts were closely associated with the peripheral interlobular septum, visceral pleura or septal-pleural junctional region. These cysts were partly abutting alveolar structures, and lined by a layer of alveolar epithelium. These unique microscopic features supported the notion that the BHD lung lesions are distinct from other types of bullous changes. Genomic DNA analysis indicated an aberrant sequence repeat that caused frameshift mutation. Immunohistochemistry showed the localization of folliculin, the BHD gene-encoding protein, in macrophages and epithelial cells in the patient's and normal control's lungs. Haploinsufficiency of folliculin may cause deranged alveolar development, leading to the aberrant cystic alveolar formation. The unique mutation patterns of abnormal sequence repeats in patients with BHD syndrome are also reviewed.     

Pulmonary air cysts in cystic fibrosis: relation of pathologic features to radiologic findings and history of pneumothorax

One lung obtained from each of 21 consecutive autopsies in adolescents and young adults with cystic fibrosis was studied prospectively by macroscopic morphometry and light microscopy to determine the prevalence, morphology, and radiographic appearance of subpleural air cysts, which potentially contribute to spontaneous pneumothorax. In 15 lungs, 41 cysts of three anatomic types were identified: bronchiectatic cysts (23), interstitial cysts (13), and emphysematous bullae (5). All cysts were significantly more numerous in the upper lobe. Bronchiectatic cysts had the largest mean diameter, occupied from less than 1 per cent to 47.7 per cent of upper lobe volume in nine patients, and produced large multiloculated hyperlucencies on chest radiographs in five cases. All six lungs with prior pneumothorax contained at least one cyst, but no significant difference was found in the type or proportion of lung volume occupied by cysts between lungs with and without pneumothorax. Patients with large cysts had significantly lower chest radiograph scores, but there was no correlation between the proportion of lung volume occupied by cysts and patient age or duration of either symptomatic lung disease or colonization by bacteria. On chest radiographs only bronchiectatic cysts with conglomerate diameters of greater than 3 cm were visible. Smaller lesions could not be separated from ring shadows produced by bronchiectasis.     

A case of invasive Langerhans cell histiocytosis localizing only in the lung and diagnosed as pneumothorax in an adolescent female

In infants, Langerhans cell histiocytosis (LCH) is associated with poor clinical outcomes as Langerhans cells invade and damage multiple organs, a presentation that is different from that in adults. Here, we present a case of a 15-year-old female who visited ourclinic complaining of right chest pain and dyspnea. She was diagnosed with right pneumothorax by chest X-ray. Chest computed tomography showed multiple cystic changes in the bilateral lung. Additionally, bullous lesions occupying the upper lobe and multiple white tiny nodules on the surface of the lung were observed by thoracoscopy. These nodules comprised proliferating atypical CD1a/S-100-positive cells invading the pulmonary parenchyma, leading to the diagnosis of LCH. Because of the extensive invasion into the pulmonary parenchyma, chemotherapy was administered. This case of LCH was unique in that the age of onset was atypical and the tumor cells occupied a single organ, despite their malignant behavior.