卡尼综合征:一种易患多种肿瘤的家族性小透镜体病。

Constantine A Stratakis
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引用次数: 0

摘要

卡尼综合征是一种家族性慢体病综合征;这些疾病涵盖了广泛的表型谱,从良性遗传易感性到与全身性疾病无关的皮肤斑点到与几种综合征相关的皮肤斑点。卡尼复合物是由PRKAR1A突变和环amp依赖性蛋白激酶(PKA)信号通路的扰动引起的。除了皮肤表现外,与卡尼复合物相关的主要肿瘤是内分泌:1)原发性色素结节性肾上腺皮质病,双侧肾上腺增生导致库欣综合征;2)垂体生长激素分泌腺瘤或垂体促生长增生导致肢端肥大症;3)甲状腺和性腺肿瘤,包括甲状腺癌的易感性。其他与卡尼复合体相关的肿瘤包括:1)心脏、乳房和其他部位的黏液瘤;2)沙瘤性黑色素神经鞘瘤,可变为恶性;4)易患多种癌症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Carney complex: A familial lentiginosis predisposing to a variety of tumors.

Carney complex is a familial lentiginosis syndrome; these disorders cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous spots not associated with systemic disease to associations with several syndromes. Carney complex is caused by PRKAR1A mutations and perturbations of the cyclic AMP-dependent protein kinase (PKA) signaling pathway. In addition to the cutaneous findings, the main tumors associated with Carney complex are endocrine: 1) primary pigmented nodular adrenocortical disease, a bilateral adrenal hyperplasia leading to Cushing syndrome; 2) growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia leading to acromegaly; 3) thyroid and gonadal tumors, including a predisposition to thyroid cancer. Other tumors associated with Carney complex include: 1) myxomas of the heart, breast and other sites; 2) psamommatous melanotic schwannomas which can become malignant; 4) a predisposition to a variety of cancers.

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