The mutational landscapes of adrenal cortex aldosterone-producing adenoma (APA) diversified between

来源 :华夏医学论坛·泌尿生殖2015暨亚太性医学年会2015 | 被引量 : 0次 | 上传用户:qwertyuiop325
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
  Objective: The genetic determinants of aldosterone producing adrenal adenoma(APA),one of the most common causes of secondary hypertension,had been studied intensively in European patients but its mutational landscapes in Asian populations remained unclear.We aim to further understand the genetic determinants of APA in East Asian patients.Methods: We perform Whole-exome sequencing and comprehensive data analyses in tumors and matched normal tissues from 22 Chinese APA patients.Results: Notably,we identified KCNJ5 as an ultra-high frequency mutation gene(72.7%)in our cohort compared with previous studies,which highlights the importance of KCNJ5 mutations in the diagnosis and targeted therapy for East Asian APA patients.We also identified somatic mutations in another potassium channel gene and other four cancer relative genes in our APA cohort.Conclusions: These findings extend our knowledge about the genetic mechanism of APA development and would contribute to the diagnosis and targeted therapy for East Asian APA patients.
其他文献
Objective: Laparoscopic nephropexy has been reported as a minimally invasive approach for symptomatic nephroptosis.We performed five cases of laparoscopic nephropexy using a self-made polytetrafluoroe
Objective: Specialized stromal tumors of the prostate include stromal sarcoma and stromal tumors of uncertain malignant potential(STUMP).They are relatively rare and the clinical and prognostic featur
Objective: To assess the efficacy and safety of local anaesthetics for premature ejaculation(PE),a systematic review of the literature was performed using the Cochrane Library,PubMed and EMBASE.Method
Objective: The transformation of penile tunica albuginea fibroblasts(TAFs)into myofibroblasts plays an important role in the pathological progress of Peyronies disease(PD).However,no treatment is curr
Objective: To clarify the antioxidation role in diabetic ED treatment by a long-term administration of PDESI.Methods: Three groups of Sprague-Dawley rats were utilized: group N,normal control;group D,
Objective: The association between eNOS polymorphism and erectile dysfunction risk remains conflicting.We conducted a meta-analysis to examine the eNOS T894G,4VNTR,C-786T polymorphism in relation to t
Objective: The fibrosis and apoptosis of corpus cavernosum(CC)tissue are the major histomorphological changes associated with diabetes-induced erectile dysfunction(ED).Our previous studies have demons
Objective: The high incidence of erectile dysfunction(ED)in diabetes highlights the need for good treatment strategies.Recent evidence indicates that silent information regulator 2 related enzymes 1(S
Objective: Testicular germ cell tumor(TGCT)is the most common malignancy among young men.We conduct this study in order to further understand the genetic determinants of TGCT.Methods: A total of 18 TG
Objective: Centromere protein H(CENPH)is one of the essential components of the human active kinetochore which close links with carcinogenesis.Its biological and clinical value of prognostic predictio