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Malignant pheochromocytoma in neurofibromatosis; mutation screening of RET proto-oncogene, VHL and SDH gene

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World Journal of Medical Genetics 2013年第1期3卷 1-4页

作者： Shirin Hasani-Ranjbar Mahsa M Amoli Maasumeh Noorani Mohsen Ghadami Obesity and Eating Habits Research Center Endocrinology and Metabolism Cellular and Molecular Sciences Institute Shariati Hospital Tehran University of Medical Sciences Endocrinology and Metabolism Research Center Shariati Hospital Tehran University of Medical Sciences

AIM: To investigate pathogenic mutations related to malignant pheochromocytoma in neurofibromatosis(NF).METHODS: We present a patient with NF and metastatic pheochromocytoma in whom genetic screening for presence of pathogenic mutations in RET protooncogene, von Hippel-Lindau(VHL) and succinate dehydrogenase complex subunits B(SDHB) genes were investigated. RET proto-oncogene mutation screening for exons 10, 11, 13, 14, 15, 16 were examined by polymerase chain reaction(PCR) and direct DNA sequencing in patient. Mutation screening for exons 1, 2, 3 of VHL gene was carried out. Both forward and reverse strandswere subjected to direct sequencing after PCR amplification. The entire coding sequence of SDHB gene was screened for the presence of pathogenic mutations by ***: A 45-year-old man presented with abdominal pain and hypertension over the previous year. The patient was a known case of neurofibromatosis type 1(NF1) who presented at the age of 15 years with hyperpigmented and hypopigmented lesions. After complete evaluation for hypertension, biochemical tests and imagings indicated a malignant pheochromocytoma of 120 mm × 70 mm in size. The patient underwent left adrenalectomy, nephrectomy and splenectomy. After surgery the symptoms improved and blood pressure was controlled. After 5 years he was admitted again for evaluation of hypertensive crisis. Biochemical tests were again consistent with pheochromocytoma and disease relapse. Imaging studies and liver biopsy confirmed metastatic pheochromocytoma to the liver and para-aortic area. 131 Iodine-metaiodobenzylguanidine therapy was carried out. Genetic screening of VHL(exons 1, 2, 3), RET proto-oncogene(exons 10, 11, 13, 14, 15, 16) and SDH complex subunits revealed no pathogenic mutation. CONCLUSION: We conclude that mutations in the NF1 gene are responsible for the patient's clinical findings. However, would be helpful to further examine somatic mutations for a more precise study of genotypephenot

关键词： Neurofibromatosis familial pheochromocytoma Malignant pheochromocytoma Metastatic pheochromocytoma RET proto-oncogene von Hippel-Lindau Succinate dehydrogenase complex subunits

Adenocarcinoma arising at ileostomy sites:Two cases and a review of the literature

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World Journal of Gastrointestinal Surgery 2015年第6期7卷 94-97页

作者： Lauren Procaccino Sameer Rehman Alexander Abdurakhmanov Peter McWhorter Nicholas La Gamma Madhu C Bhaskaran James Maurer Gregory M Grimaldi Horacio Rilo Jeffrey Nicastro Gene Coppa Ernesto P Molmenti John Procaccino Department of Surgery North Shore University Hospital

Total colectomy with ileostomy placement is a treatment for patients with inflammatory bowel disease or familial adenomatous polyposis(FAP). A rare and late complication of this treatment is carcinoma arising at the ileostomy site. We describe two such cases: a 78-year-old male 30 years after subtotal colectomy and ileostomy for FAP, and an 85-year-old male 50 years after colectomy and ileostomy for ulcerative colitis. The long latency period between creation of the ileostomies and development of carcinoma suggests a chronic metaplasia due to an irritating/inflammatory causative factor. Surgical excision of the mass and relocation of the stoma is the mainstay of therapy, with possible benefits from adjuvant chemotherapy. Newly developed lesions at stoma sites should be biopsied to rule out the possibility of this rare ileostomy complication.

关键词： Ileostomy Carcinoma Adenocarcinoma familial adenomatous polyposis Inflammatory boweldisease Complication of ileostomy

Knowledge explosion for monogenic skin diseases

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World Journal of Dermatology 2015年第1期4卷 44-49页

作者： Nikoletta Nagy Katalin Farkas Lajos Kemény Márta Széll Dermatological Research Group of the Hungarian Academy of Sciences University of Szeged Department of Dermatology and Allergology University of Szeged Department of Medical Genetics University of Szeged Dermatological Research Group of the Hungarian Academy of Sciences University of Szeged

During the past few decades, the investigative technologies of molecular biology- especially sequencing-underwent huge advances, leading to the sequencing of the entire human genome, as well as the identification of several candidate genes and the causative geneticvariations that are responsible for monogenic skin diseases. These advances provided a solid basis for subsequent studies elucidating mechanisms of monogenic skin diseases and improving our understanding of common skin diseases. Furthermore, these discoveries also contributed to the development of novel therapeutic modalities for monogenic skin diseases. In this review, we have used the disease spectrum caused by mutations in the CYLD gene- Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma type 1- as a model for demonstrating the knowledge explosion for this group of diseases.

关键词： familial trichoepitheliomatosis familial cylindromatosis Brooke-Spiegler syndrome Monogenic skin diseases

Protein,carbohydrate and lipid metabolism

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外科研究与新技术 1993年第1期 15-15页

930043 Analysis of familial aggregation ofserum *** Jianhua(王建华),et *** Med Coll,Tianjin,*** J Car-diol 1992;20(4):234-236.

关键词： Tianjin metabolism lipids familial carbohydrate aggregation 建华 likely maternal relatives

结直肠次全切回肠与中下段直肠吻合治疗家族性腺瘤性息肉病12例

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中国现代普通外科进展 2016年第8期19卷 648-648页

作者：王亚儒李超敏陕西省宝鸡市中心医院肛肠外科陕西宝鸡721008 陕西省宝鸡市中心医院骨病关节科陕西宝鸡721008

家族性腺瘤性息肉病（familial adenomatous polyposis,FAP）是是一种常染色体显性遗传病,未治疗患者30-40岁时恶变率几乎为100%。我科2005年2月-2014年2月对12例FAP患者行结直肠次全切回肠与中下段直肠吻合治疗,报道如下。1资料和方法... 详细信息

家族性腺瘤性息肉病（familial adenomatous polyposis,FAP）是是一种常染色体显性遗传病,未治疗患者30-40岁时恶变率几乎为100%。我科2005年2月-2014年2月对12例FAP患者行结直肠次全切回肠与中下段直肠吻合治疗,报道如下。1资料和方法1.1一般资料12例患者中男7例、女5例;年龄24-55岁,平均32.2岁;病史4月-23年,平均17年;分布在4个家族。

关键词： adenomatous polyposis familial 肠吻合恶变率息肉癌变下段弧形切割吻合器吻合口漏黏液血便

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爱睡懒觉不是你的错

北方人 2012年第4期 53-53页

作者：胡雯雯

为什么有些人怎么都睡不够,而有些人只要躺上四五个小时就生龙活虎呢?我们习惯把第一种人跟"懒"挂上勾,但科学家们发现,这可能全怪他们的基因。2011年底。

关键词：德国研究睡眠时间人体生物钟基因突变睡眠模式精神医学睡眠问题神经学家 familial

2013 EAS家族性高胆固醇血症诊治共识简介

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中国医学前沿杂志（电子版） 2013年第10期5卷 44-47页

作者：李为民刘怡希哈尔滨医科大学附属第一医院心内科哈尔滨150001

家族性高胆固醇血症（familial hypercholestero-laemia，FH）是以血浆低密度脂蛋白胆固醇（LDL-C）升高、外周组织黄色瘤、动脉粥样硬化及早发冠心病为特征的常染色体显性单基因遗传病。但是，目前该病相应的诊断、管理指南不足，世界... 详细信息

家族性高胆固醇血症（familial hypercholestero-laemia，FH）是以血浆低密度脂蛋白胆固醇（LDL-C）升高、外周组织黄色瘤、动脉粥样硬化及早发冠心病为特征的常染色体显性单基因遗传病。但是，目前该病相应的诊断、管理指南不足，世界范围内缺乏对该病的规范管理。为精确评估FH诊断及患病率，同时为患者提供规范的诊疗方案，欧洲动脉粥样硬化学会（European Atherosclerosis Society， EAS）首次发表了FH诊治共识[1]。

关键词： EAS 早发冠心病诊疗方案外周组织首次发表黄色瘤 familial 胆汁酸结合树脂显性单基因高胆固醇血症

ampullary 腺瘤的诊断和管理: 内视镜检查法的膨胀角色

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World Journal of Gastrointestinal Endoscopy 2011年第12期3卷 241-247页

作者： Payam Chini Peter V Draganov Division of Gastroenterology Hepatology and NutritionUniversity of FloridaGainesvilleFL 32610United States

Ampullary adenoma is a pre-cancerous lesion arising from the duodenal papilla that is often *** is important to distinguish whether the adenoma is sporadic or arises in the setting of familial adenomatous polyposis as this has important implications with respect to management and *** modalities are available for staging of these lesions to help guide the most appropriate *** that are used most commonly include computed tomography,endoscopic ultrasound,and endoscopic retrograde *** recent years,endoscopy has become the primary modality for therapeutic management of the majority of ampullary *** remains the standard curative procedure for confirmed or suspected *** review will provide the framework for the diagnosis and management of ampullary adenomas from the perspective of the practicing gastroenterologist.

关键词： Ampullary adenoma Ampullectomy Duodenal papilla familial adenomatous polyposis Papillectomy