与卡尼综合征及种系PRKAR1A突变相关的人类肿瘤：一种蛋白激酶A疾病！
Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!
作者信息
Stergiopoulos Sotirios G, Stratakis Constantine A
机构信息
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, NIH, Building 10, Room 10N262, 10 Center Dr. MSC1862, Bethesda, MD 20892, USA.
出版信息
FEBS Lett. 2003 Jul 3;546(1):59-64. doi: 10.1016/s0014-5793(03)00452-6.
Carney complex (CNC) is a multiple neoplasia syndrome that consists of endocrine (thyroid, pituitary, adrenocortical and gonadal), non-endocrine (myxomas, nevi and other cutaneous pigmented lesions), and neural (schwannomas) tumors. Primary pigmented nodular adrenocortical disease (PPNAD) is the most common endocrine manifestation of CNC and the only inherited form of Cushing syndrome known to date. In the search of genes responsible for CNC, two chromosomal loci were identified; one (17q22-24) harbored the gene encoding the type I-alpha regulatory subunit (RIalpha) of protein kinase A (PKA), PRKAR1A, a critical component of the cAMP signaling pathway. Here we review CNC and the implications of this discovery for the cAMP and/or PKA's involvement in human tumorigenesis.
卡尼综合征（CNC）是一种多发性肿瘤综合征，由内分泌（甲状腺、垂体、肾上腺皮质和性腺）、非内分泌（黏液瘤、痣和其他皮肤色素沉着病变）和神经（神经鞘瘤）肿瘤组成。原发性色素沉着性结节性肾上腺皮质病（PPNAD）是CNC最常见的内分泌表现，也是迄今为止已知的唯一一种遗传性库欣综合征形式。在寻找与CNC相关的基因时，确定了两个染色体位点；其中一个（17q22 - 24）包含编码蛋白激酶A（PKA）的I-α调节亚基（RIα）的基因PRKAR1A，它是cAMP信号通路的关键组成部分。在此，我们综述CNC以及这一发现对cAMP和/或PKA参与人类肿瘤发生的影响。
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