Imaging manifestations of von Hippel-Lindau disease： a report of 3 cases

Von HippeI-Lindau ( VHL ) disease is an autosomal-dominant hereditary familial neoplasm syndrome characterized by development of a variety of benign and malignant tumors in multiple organ systems, such as the brain, kidney,pancreas, adrenal gland, and epididymis, with a prevalence of one in 39000 -53000.     

Neurologic manifestations of von Hippel-Lindau disease

John A. Butman, MD, PhD; W. Marston Linehan, MD; Russell R. Lonser, MD

JAMA. 2008;300(11):1334-1342.

von Hippel-Lindau disease (VHL) is an autosomal-dominant neoplasia syndrome that is the result of a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. Patients with VHL are predisposed to develop lesions of the central nervous system and viscera. Central nervous system lesions include hemangioblastomas (the most common tumor in VHL) and endolymphatic sac tumors (ELSTs). Visceral manifestations include renal carcinomas and cysts, pancreatic neuroendocrine tumors and cysts, pheochromocytomas, and cystadenomas of the reproductive adnexal organs. Despite their benign pathology, hemangioblastomas and ELSTs are a frequent cause of morbidity and mortality in patients with VHL. Recent molecular biologic investigations into these VHL-associated central nervous system lesions provide new insight into their origin and development. Emerging data from serial imaging and clinical surveillance protocols provide insight into the natural history of these lesions. Because of the dissimilar pathobiology and clinical course between hemangioblastomas and ELSTs, the optimal management strategies for these neurologic manifestations of VHL are very different.

     

von Hippel-Lindau病三例并文献复习

目的:初步探讨VHL病的发病机制、诊断以及治疗。方法:回顾分析既往收治的3例VHL病人并结合文献复习。结果:3例患者中1例有家族史,另2例为多发病变,均未能全切。第1例患者鞍上无症状病变动态观察,第2例患者颈椎HB过小,动态观察,第3例患者一处病变位于颈椎腹侧,无法切除,其余病变全部切除。结论:本病诊断主要依靠MRI,治疗主要依靠手术,因累及脏器多,很难全部切除,易复发,愈后较差。     

VHL综合征一例报告?

1 临床资料 患者,男,37岁,因"双侧肾上腺肿瘤、小脑肿瘤术后复查发现双肾肿瘤"于2006年6月7日入院.患者1984年因出现阵发性头痛、心悸、出汗、血压升高(最高220/120 mmHg,1 mmHg=0.133 kPa),入当地医院诊断为"双侧肾上腺嗜铬细胞瘤"行"双侧嗜铬细胞瘤切除术",术后病理证实诊断,术后症状缓解,血压降至正常.     

腹茧症6例影像学表现

目的：提高对腹茧症影像学表现的认识。方珐：对6例经手术病理证实为腹茧症的影像学资料进行回顾性分析。站果：有4例X线腹部平片显示不全性小肠梗阻。钡餐检查示小肠聚集重叠于脐周(3例)或偏向左中腹部(1例)，呈盘曲状，钡剂通过缓慢。4例CT检查显示小肠扩张、积液，被一层膜状结构包裹，其中3例肠管间可见膜状间隔。2例B超检查显示小肠聚集，外见一层弱回声组织。站论：腹茧症影像学表现具有一定的特征，密切结合临床，大多数病例能得到正确的诊断。     

VHL病伴发双侧肾癌3例报告并文献复习

目的 初步探讨以冯·希佩尔·林道(Von Hippel-Lindau,VHL)病并发双侧肾癌的发病特点、诊断及治疗.方法 回顾分析2007年2月-2011年6月解放军第309医院收治的3例VHL病并发双侧肾癌的患者,并结合文献复习.结果 3例中1例有家族史,先后行右侧保留肾单位手术,左侧腹腔镜下肾癌根治性切除,病理提示为透明细胞癌,术后规律血液透析,等待肾移植;另2例为多发病变,双侧肾癌伴双侧多发肾囊肿,2例均选择双侧保留肾单位手术和肾囊肿去盖术,术后病理提示为透明细胞癌,肾功能正常.结论 VHL病肾癌有独特的临床特征,不同于散发性肾癌,诊断主要依靠MRI和CT;治疗主要依靠手术,术后易复发,因累及多脏器,需要多学科给予综合治疗.     

VHL综合征临床特点及影像学表现--附3例报告并文献复习

目的探讨VHL(Von Hippel-Lindau，VHL)综合征的临床和影像学特征。方法回顾性分析3例经术后病理证实的Von Hlppel-Lindau综合征的临床和影像学资料。结果3例均为男性，均合并小脑血管母细胞瘤和肾透明细胞癌、肾囊肿。1例合并胰腺囊肿和腹壁血管瘤，1例合并肾上腺腺瘤和睾丸囊肿，1例有家族史。小脑血管母细胞瘤发病时间25-35岁，肾脏透明细胞癌发病时间35～50岁。结论Von Hippel-Lindau综合征病变可累及多个器官，临床表现多样，对合并中枢神经系统血管瘤和肾胰囊肿或透明细胞癌的可疑该病患者，应对该患者及其家族成员进行长期随访追踪并定期全面地影像学体检，以尽早发现，尽旱治疗。     

不同表现的脑膜转移瘤3例报道并文献复习

目的分析脑膜转移瘤的不同表现,包括临床表现、影像学、脑脊液检查等,以提高对该疾病的认识。方法收集2011年9月—2018年7月中日友好医院中西医结合肿瘤内科诊治的脑膜转移瘤患者3例,均经影像学或脑脊液检查确诊,对其临床资料进行综合分析。结果 3例患者中,增强MR检查有明显强化2例,脑脊液检查阳性1例。有明显的相关临床表现2例。结论增强MR及脑脊液检查均具有一定的局限性,且临床无特异性表现,因此诊断时需综合临床及各项检查结果。     

Genetic study of a large Chinese kindred with von Hippel-Lindau disease

Background Von HippeI-Lindau (VHL) disease is a heraditary cancer syndrome caused by germline mutations of the VHL tumor on the suppressor gene. This study was to show the clinical characteristics of a large Chinese kindred with yon HippeI-Lindau disease and to evaluate the role of the genetic test of VHL disease in the diagnosis of VHL disease and clinical screening of members of the VHL disease family.Methods DNA extracted from peripheral blood was amplified by PCR to three exons of the VHL gene in 27 members of a large kindred with VHL disease. PCR products were directly sequenced. The involvements of multi-organs in the kindred with VHL disease were confirmed by history taking and radiography.Results Of 47 members in the four generations of the kindred, 18 members were diagnosed as having VHL desease. Clinical manifestations of 18 patients included: central nervous system (CNS)hemangioblastoma (5), renal cell carcinoma and CNS hemangioblastoma (3), renal cell carcinoma and retinal angioma (3), renal cell carcinoma and multiple pancreatic cysts (1), renal cell carcinoma and retinal angioma and multiple pancreatic cysts (2), renal cell carcinoma and CNS hemangioblastomas and multiple pancreatic cysts (1), and multiple pancreatic cysts and multiple renal cysts (1), multiple pancreatic cysts (2). The common lesions of the 18 patients were renal cell carcinoma (55.6%), CNS hemangioblastoma (50.0%), retinal angioma (27.8%), and multiple pancreatic cysts (38.9%). Among the 27 members who volunteered for genetic analysis, 15 members including 9 affected family patients and 2 asymptomatic patients and 4 carriers, who are still alive, presented a codon 78 from Asn to Ser change at nucleotide 446 (A→G) in exon 1. Four members were carriers with the same VHL gene mutation. Two asymptomatic patients were initially diagnosed by genetic testing and subsequently confirmed radiologically and surgically. Members without gene mutation had no clinical evidence of VHL disease.Conclusions The large Chinese kindred with VHL disease was classified as type I . The main characteristics in the kindred were higher incidence of renal cell carcinoma and lower incidence of retinal angioma. Genetic test plays an important role in early detecting asymptomatic patients and the carriers in clinical screening of members of the families with VHL disease. It is also important to prevent the transmission of VHL disease to their offsprings in the kindred.     

骨斑点症12例的影像学表现

[背景]观察骨斑点症的影像学表现.[病例报告]选择12例骨斑点症患者的临床及影像学资料进行回顾性分析.12例患者双上肢、下肢及躯干骨表现为弥漫性和对称性分布的斑点状及斑片状X线、CT检查高密度、MRI检查短T2长T1信号影,边界清楚.[讨论]骨斑点症的影像学表现特点明显,可根据X线及CT,MRI检查表现进行影像学诊断.     

多发性骨髓瘤临床分析（附65例）

目的　探讨多发性骨髓瘤的临床特征。方法　复习６５ 例多发性骨髓瘤患者初诊时的临床资料。结果与结论　患者绝大多数为中老年人，但较国外患者年轻；蛋白尿、贫血、骨痛为主要临床表现；骨质病变程度与骨髓中的瘤细胞数无显著相关；对于骨髓中瘤细胞数较高者， Ｖ Ａ Ｄ 方案疗效较好；阿可达可能对骨质破坏有阻抑作用。     

肝脏移植术后移植物抗宿主病三例报告

目的 探讨与总结肝脏移植术后移植物抗宿主病(GVHD)的诊断及治疗经验。方法 跟踪并分析3例原位肝脏移植患者急性GVHD的临床经过和实验室检查结果。临床表现、皮肤活检、外周血HLA及聚合酶链反应扩增短串联重复序列(PCR—STR)检查作为其诊断依据。并对免疫抑制剂进行调整。结果 3例在术后3～8周内均出现不明原因的发热、皮疹、腹泻、中性粒细胞减少或全血细胞减少,期间肝功能均正常或接近正常,巨细胞病毒(CMV)早期抗原(pp65)、EB病毒抗体(IgM)均阴性。术后受体外周血淋巴细胞可检测到供体HLA抗原,1例女性受体外周血PCR—STR检测到供体Y染色体嵌合。3例患者最终均死于感染、消化道出血、多器官功能衰竭等并发症。结论 肝移植术后GVHD的发生并非罕见,早期易被误诊,治疗效果令人失望。     

血管内平滑肌瘤病5例影像学表现

目的 总结血管内平滑肌瘤病的影像学特点及临床治疗经验.方法 回顾性分析我院2014年1月至2019年12月确诊的5例血管内平滑肌瘤病患者的临床表现、影像学资料、手术治疗情况及术后病理和免疫组织化学染色等资料,总结血管内平滑肌瘤病的影像学特点及临床治疗经验.结果 5例患者均为女性,年龄为46～60岁(平均51.8岁),均...