Carney complex (CNC).
Carney complex (CNC).
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DOI：
10.1186/1750-1172-1-21
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发表时间：
2006-06-06
影响因子：
3.7
通讯作者：
Bertherat, Jerome
中科院分区：
文献类型：
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作者：
Bertherat, Jerome
卡尼综合征 (CNC) 是一种显性遗传综合征，其特征是皮肤色素沉着、内分泌过度活跃和粘液瘤。皮肤色素异常包括雀斑和蓝痣。最常见的内分泌腺表现是肢端肥大症、甲状腺和睾丸肿瘤以及由原发性色素结节性肾上腺皮质疾病（PPNAD）引起的促肾上腺皮质激素（ACTH）非依赖性库欣综合征。 PPNAD 是库欣综合征的一种罕见原因，是由于原发性双侧肾上腺缺陷引起的，在一些没有其他 CNC 表现或家族史的患者中也可以观察到这种缺陷。粘液瘤可见于心脏、皮肤和乳房。心脏粘液瘤可发生在任何心腔，并且可能是多发性的。位于 17q22-24 的假定 CNC 基因之一 (PRKAR1A) 已被鉴定为编码蛋白激酶 A 的调节亚基 (R1A)。PRKAR1A 杂合失活突变最初在 45% 至 65% 的 CNC 索引病例中报道，并且可能存在于约 80% 主要表现为库欣综合征的 CNC 家族中。 PRKAR1A 是 cAMP 信号通路的关键组成部分，与内分泌肿瘤发生有关，并且至少可以部分发挥抑癌基因的作用。应建议对所有 CNC 索引病例进行遗传分析。患有 CNC 或具有 CNC 遗传倾向的患者应定期筛查疾病表现。所有患者应每年至少对 CNC 的所有表现进行一次临床检查，并且应从婴儿期开始。心脏粘液瘤需要手术切除。应讨论 CNC 其他表现的治疗，可能包括随访、手术或药物治疗，具体取决于肿瘤的位置、大小、肿瘤块或激素过多的临床体征的存在以及恶性肿瘤的怀疑。双侧肾上腺切除术是 PPNAD 引起的库欣综合征最常见的治疗方法。
The Carney complex (CNC) is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Skin pigmentation anomalies include lentigines and blue naevi. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). PPNAD, a rare cause of Cushing's syndrome, is due to primary bilateral adrenal defect that can be also observed in some patients without other CNC manifestations or familial history of the disease. Myxomas can be observed in the heart, skin and breast. Cardiac myxomas can develop in any cardiac chamber and may be multiple. One of the putative CNC genes located on 17q22-24, (PRKAR1A), has been identified to encode the regulatory subunit (R1A) of protein kinase A. Heterozygous inactivating mutations of PRKAR1A were reported initially in 45 to 65 % of CNC index cases, and may be present in about 80 % of the CNC families presenting mainly with Cushing's syndrome. PRKAR1A is a key component of the cAMP signaling pathway that has been implicated in endocrine tumorigenesis and could, at least partly, function as a tumor suppressor gene. Genetic analysis should be proposed to all CNC index cases. Patients with CNC or with a genetic predisposition to CNC should have regular screening for manifestations of the disease. Clinical work-up for all the manifestations of CNC should be performed at least once a year in all patients and should start in infancy. Cardiac myxomas require surgical removal. Treatment of the other manifestations of CNC should be discussed and may include follow-up, surgery, or medical treatment depending on the location of the tumor, its size, the existence of clinical signs of tumor mass or hormonal excess, and the suspicion of malignancy. Bilateral adrenalectomy is the most common treatment for Cushing's syndrome due to PPNAD.