Genetic aspects of pheochromocytoma.
Genetic aspects of pheochromocytoma.
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发表时间：
2012-11
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通讯作者：
K. Kolačkov;K. Tupikowski;G. Bednarek-Tupikowska
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作者：
K. Kolačkov;K. Tupikowski;G. Bednarek-Tupikowska
嗜铬细胞瘤起源于肾上腺髓质嗜铬细胞，合成和分泌儿茶酚胺，从而影响心血管系统和代谢过程。嗜铬细胞瘤是一种多发性癌遗传综合征：2型多发性内分泌瘤、von Hippel-Lindau病、1型神经纤维瘤和嗜铬细胞瘤/副神经节瘤综合征。嗜铬细胞瘤相对罕见，由于这些肿瘤的非特异性表现，以及可能长时间缺乏体征和症状，诊断可能会延误，进而可能导致死亡。嗜铬细胞瘤可零星发生。然而，由于这些癌症的遗传性形式经常发生，因此需要对有阳性家族史的家庭成员进行症状前基因测试，从而能够选择癌症风险较高的人。早期发现综合征和共存的肿瘤(可能是恶性的)可能会导致正确的诊断、定期的监测、预防性检查和实施适当的早期治疗。最近的研究表明，RET、VHL、NF1、SDHB和SDHD以及新发现的KIF1Bβ、TMEM127和MAX基因在这些肿瘤的发病机制中具有重要意义。基于对细胞通路的分析，微阵列基因表达研究揭示了两个不同的簇，表明了两种不同的肿瘤发生途径。基因-表型的相关性仍在研究中，未来的研究可以为我们提供关于这些基因功能的更清晰的信息，从临床角度来看，这可能被证明是至关重要的。
Pheochromocytomas are derived from chromaffin cells of the adrenal medulla which synthesize and secrete catecholamines, thus affecting the cardiovascular system and metabolic processes. Pheochromocytoma is a tumor of the following multicarcinoma hereditary syndromes: type 2 multiple endocrine neoplasia, von Hippel-Lindau disease, type 1 neurofibromatosis and the pheochromocytomas/paragangliomas syndrome. Pheochromocytomas are relatively rare, and because of non-specific manifestation of these tumors and the possible lack of signs and symptoms for extended periods of time, the diagnosis may be delayed, which may, in turn, lead to death. Pheochromocytomas may occur sporadically. However, due to the frequent incidence of hereditary forms of these cancers, the presymptomatic genetic testing of family members with a positive family history is indicated, thus allowing for selecting people with higher risk of cancer. Early detection of the syndrome and the coexisting tumors (which may be malignant) may lead to a correct diagnosis, regular surveillance, preventive examinations and implementation of appropriate early treatment. Recent examinations have shown significant involvement of RET, VHL, NF1, SDHB and SDHD as well as the newly discovered KIF1Bβ, TMEM127 and MAX genes in pathogenesis of these tumors. The microarray-gene expression studies, based on the analysis of cellular pathways, have revealed two distinct clusters indicating two different routes of tumorgenesis. The genotype-phenotype correlations are still being studied and future research can give us clearer information about the function of these genes, which may prove crucial from the clinical point of view.