家族性嗜铬细胞瘤和副神经节瘤。
Familial pheochromocytomas and paragangliomas.
机构信息
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Mol Cell Endocrinol. 2014 Apr 5;386(1-2):92-100. doi: 10.1016/j.mce.2013.07.032. Epub 2013 Aug 7.
Pheochromocytomas and paragangliomas are neural crest cell tumors of the adrenal medulla and parasympathetic/sympathetic ganglia, respectively, that are often associated with catecholamine production. Genetic research over the years has led to our current understanding of the association 13 susceptibility genes with the development of these tumors. Most of the susceptibility genes are now associated with specific clinical presentations, biochemical makeup, tumor location, and associated neoplasms. Recent scientific advances have highlighted the role of somatic mutations in the development of pheochromocytoma/paraganglioma as well as the usefulness of immunohistochemistry in triaging genetic testing. We can now approach genetic testing in pheochromocytoma/paraganglioma patients in a very organized scientific way allowing for the reduction of both the financial and emotional burden on the patient. The discovery of genetic predispositions to the development of pheochromocytoma/paraganglioma not only facilitates better understanding of these tumors but will also lead to improved diagnosis and treatment of this disease.
嗜铬细胞瘤和副神经节瘤分别是肾上腺髓质和副交感/交感神经节的神经嵴细胞肿瘤，它们通常与儿茶酚胺的产生有关。多年来的遗传研究使我们目前了解到，这些肿瘤的发生与 13 个易感性基因有关。大多数易感性基因现在与特定的临床表现、生化构成、肿瘤位置和相关肿瘤有关。最近的科学进展强调了体细胞突变在嗜铬细胞瘤/副神经节瘤发展中的作用，以及免疫组织化学在遗传检测中的分类作用。我们现在可以非常有组织地科学地对嗜铬细胞瘤/副神经节瘤患者进行基因检测，从而减少患者在经济和情感上的负担。发现嗜铬细胞瘤/副神经节瘤发生的遗传倾向，不仅有助于更好地理解这些肿瘤，还将导致对这种疾病的诊断和治疗的改善。
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