摘要
希佩尔-林道综合征(von Hippel-Lindau syndrome,VHL)是一种涉及全身多个部位罕见家族性常染色体显性遗传性疾病.其主要症状为血管母细胞瘤及内脏肿瘤.因其早期无症状并涉及全身多个系统,容易造成漏诊、误诊.现结合文献,报告我院近期收治的1例仅以胰腺、肾囊肿为表现的希佩尔-林道综合征.
出处
《中华肝胆外科杂志》
CAS
CSCD
北大核心
2014年第12期865-865,876,共2页
Chinese Journal of Hepatobiliary Surgery
参考文献8
-
1Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease :a clinical and scientific review[ J]. Eur J Hum Genet, 2011,19 (6) :617-623.
-
2Nordstrom-O'Brien M, Van Der Luijt RB, Van Rooijen E, et al. Genetic analysis of von Hippel-Lindau disease[ J]. Hum Mutat, 2010,31 (5) :521-537.
-
3Lonser RR, Glenn GM, Walther M, et al. yon Hippel-Lindau dis- ease[ J]. Lancet, 2003,361 (9374) :2059-2067.
-
4Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel- Lindau disease tumor suppressor gene [ J ]. Science, 1993,260 (5112) :1317-1320.
-
5Hes F, Zewald R, Peeters T, et al. Genotype-phenotype correla- tions in families with deletions in the yon Hippel-Lindau (VHL) gene [ J ]. Hum Genet, 2000,106 (4) :425-431.
-
6Shuin T, Yamazaki I, Tamura K, et al. Recent advances in ideas on the molecular pathology and clinical aspects of yon Hippel-Lin- dau disease[ J]. Int J Clin Oncol, 2004,9(4) :283-287.
-
7邹忠东,张再重,姚和祥,王烈.胰腺囊性肿瘤126例外科诊治分析[J].中华肝胆外科杂志,2013,19(12):891-894. 被引量:8
-
8夏雨人,李强,周远达,陈潞.胰腺神经内分泌肿瘤88例临床分析[J].中华肝胆外科杂志,2013,19(10):730-733. 被引量:12
二级参考文献39
-
1YaoJC, Hassan M, Phan A, et al. One hundred years after" carcinoid": epidemiology of and prognostic factors for neuroen?docrine tumors in 35,825 cases in the United States[J].J Clin Oncol, 2008,26: 3063-3072.
-
2Edge SB, Byrd DR, Edge SB, et al. Exocrine and endocrine pancreas. In: AJCC Cancer Staging Manual. 7th ed[J]. Phila- delphia: Springer, 2010:241-249.
-
3Halfdanarson TR, Rabe KG, RubinJ, et al. Pancreatic neu?roendocrine tumors (PNETs) : incidence, prognosis and recent trend toward improved survival[J]' Ann Oncol , 2008,19: 1727-1733.
-
4White TJ, EdneyJA, ThompsonJS, et al. Is there a prognos?tic difference between functional and nonfunctional islet cell tumors?[J]. AmJ Surg, 1994,168:627-630.
-
5SarmientoJM, Farnell MB, Que FG, et al. Pancreaticoduode?nectomy for islet cell tumors of the head of the pancreas: long?term survival analysis[J]. WorldJ Surg, 2002,26:1267-1271.
-
6Phan GQ, Yeo CJ, Hruban RH, et al. Surgical experience with pancreatic and peripancreatic neuroendocrine tumors: re?view of 125 patients[J]'J Gastrointest Surg, 1998, 2: 473-482.
-
7Williams ED, Siebenmann, RE, Sobin LH, et al. International histological classification of tumours: Histological typing of en?docrine tumours[M]. Geneva: WHO press, 1980: 19-22.
-
8Hamilton SR, Aaltonen LA. World Health Organization clas?sification of turnours. Pathology and genetics of tumours of the digestive system[MJ. Lyon: LARC Press, 2000: 53-54.
-
9Bosman FT, Carneiro F, Hruban RH, et al. Pathology and genetics of tumours of the digestive system[M]. Lyon: IARC press, 2010: 13-14.
-
10Ellison TA, Wolfgang CL, Shi C, et al. A Single institutions 26-year experience with nonfunctional pancreatic neuroendo?crine tumors: a validation of current staging systems and a new prognostic nomogram[J]' Ann Surg, 2013, 249: 721-723.
共引文献18
-
1李泽朝,罗诗樵.胰腺神经内分泌癌肝转移治疗现状[J].中华肝胆外科杂志,2014,20(3):232-235. 被引量:3
-
2刘永军,傅德良,吴钢,翁皖,陈原华.手术治疗胰腺神经内分泌肿瘤59例预后分析[J].中国实用外科杂志,2014,34(6):541-544. 被引量:1
-
3褚辉波.胰腺囊性肿瘤的手术治疗时机、方式以及术后并发症的处理探讨[J].当代医学,2014,20(19):65-66. 被引量:3
-
4刘新农,李扬,王磊,胡三元,张光永,李峰.胰腺神经内分泌肿瘤先后发生肝转移和骨转移一例[J].中华肝胆外科杂志,2014,20(7):531-531.
-
5陈焕伟,王峰杰,邓斐文,卢瑞梁,赖均鹏,廖珊.保留中段的胰腺切除术二例报告并文献复习[J].中华肝胆外科杂志,2014,20(8):609-611. 被引量:1
-
6王克,单云峰.胰腺囊性肿瘤临床诊治特征分析:附112例报告[J].中国普通外科杂志,2015,24(3):398-401. 被引量:9
-
7辛宝宝,楼文晖,李剑昂,韩序,许雪峰.胰腺神经内分泌癌的临床病理特点和预后因素分析[J].中华普通外科杂志,2015,30(5):352-356. 被引量:8
-
8何文志,李兴德,赵瑾.胰腺神经内分泌肿瘤的研究进展[J].现代肿瘤医学,2015,23(12):1775-1778. 被引量:8
-
9李咏梅,牛敬宪.胰腺内分泌肿瘤40例的临床分析[J].中国卫生标准管理,2015,6(28):41-42.
-
10赵年.MSCT与MRI对胰腺囊性肿瘤钙化、囊性成分的观察价值[J].中国CT和MRI杂志,2016,14(4):90-93. 被引量:17
同被引文献13
-
1杜围,关志忱.VHL综合征基因研究进展[J].罕少疾病杂志,2005,12(1):28-30. 被引量:3
-
2龚侃,张宁,那彦群.第六届国际希佩尔林道病学术会议简报[J].中华外科杂志,2005,43(6):369-369. 被引量:1
-
3石素胜,冯晓莉,孙耘田,何祖根.附睾乳头状囊腺瘤及von Hippel-Lindau综合征临床病理分析[J].诊断病理学杂志,2005,12(3):171-173. 被引量:7
-
4宫大鑫,王侠,李泽良,姜元军,孙志熙,孔垂泽.遗传性肾癌11例临床分析[J].中华外科杂志,2006,44(14):963-965. 被引量:4
-
5寿建忠,马建辉.家族性肾透明细胞癌的遗传学研究现状[J].肿瘤研究与临床,2006,18(10):649-651. 被引量:2
-
6Jung Y S, Lee S J, Lee S H, et al. Loss of VHL pro- motes progerin expression, leading to impaired plg/ARF function and suppression of p53 activity [ J ]. Cell Cycle, 2013,12 ( 14 ) :2277-2290.
-
7Fisher R, Horswell S, Rowan A, et al. Development of synchronous VHL syndrome tumors reveals contingencies and constraints to tumor evolution [ J ]. Genome Biol, 2014,15(8) :433.
-
8苑著,张忠涛,李建设,屈翔,金岚,韩威,王宇.伴胰腺肿瘤VHL综合征一例[J].中华肝胆外科杂志,2009,15(6):419-419. 被引量:2
-
9赵长锁.1例VHL综合征的诊断特点及治疗方法[J].中国当代医药,2012,19(14):140-140. 被引量:1
-
10邓建华,李汉忠,严维刚,徐维锋.vonHippel—Lindau综合征2B型合并白细胞破碎性血管炎一例报告并文献复习[J].中华泌尿外科杂志,2012,33(7):485-488. 被引量:1
-
1张贵兰.VHL基因和HIF-1α表达与子宫颈癌相关性研究[J].山东医学高等专科学校学报,2014,36(4):279-281.
-
2赵长锁.1例VHL综合征的诊断特点及治疗方法[J].中国当代医药,2012,19(14):140-140. 被引量:1
-
3范伟.子宫颈癌中VHL基因和HIF-1α表达及意义[J].山东医学高等专科学校学报,2011,33(1):19-22.
-
4马伟杰,张君.肾癌相关抑癌基因[J].中国肿瘤生物治疗杂志,2014,21(3):337-341. 被引量:1
-
5王洪海,李连宏,毛俊,王波,马威,范盼红,侯震寰.乳腺癌中干细胞标志物ALDH1及VHL/HIF-1α的表达及意义[J].临床与实验病理学杂志,2013,29(6):598-602. 被引量:10
-
6顾安康,肖尹,纪华安.皮肤霍奇金淋巴瘤[J].临床皮肤科杂志,2012,41(8):478-480. 被引量:1
-
7赵志强,王养民,张斌,景德善,常德辉,鲁守琳,赵玉海.散发性嗜铬细胞瘤中希佩尔林道蛋白与缺氧诱导因子-α的相关性研究[J].现代肿瘤医学,2010,18(8):1581-1583.
-
8解俊杰,钱叶勇,石炳毅,范宇,柏宏伟,贾金凤.VHL病伴发双侧肾癌3例报告并文献复习[J].军医进修学院学报,2012,33(4):409-411. 被引量:2
-
9寸恩浩,杨军,于春江,李志强,梁继军.家族性同一部位血管母细胞瘤的诊断治疗(附两个家系报告)[J].中华神经外科杂志,2011,27(8):821-823. 被引量:5
-
10张磊,廖翠微,杨柳青,文利,张冬.MR检查对冯·希佩尔·林道综合征诊断的意义[J].解放军医学院学报,2016,37(8):853-857.