嗜铬细胞瘤——一种特殊的内分泌肿瘤

Pál Perge, Péter Igaz
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摘要

嗜铬细胞瘤是一种罕见的神经内分泌肿瘤,在所有人类肿瘤中具有最高的遗传率。它主要起源于肾上腺髓质,但大约20%的病例位于肾上腺外(所谓的副神经节瘤)。肿瘤释放的儿茶酚胺激素可导致多种临床表现。嗜铬细胞瘤是一种特殊的内分泌肿瘤,主要表现在三个方面。它的高遗传性与观察到在大约40%的嗜铬细胞瘤患者中可以检测到种系突变有关。此外,在很大比例的非遗传性散发性肿瘤中可以发现体细胞突变。到目前为止,有超过20个基因
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A feokromocitóma – egy különleges endokrin daganat • Pheochromocytoma–A Peculiar Endocrine Tumour
Pheochromocytoma is a rare neuroendocrine tumour, which has the highest rate of heritability among all human tumours. It originates predominantly from the adrenal medulla, however approximately 20% of all cases are located extra-adrenally (so called paraganglioma). The catecholamine hormones released from the tumour can lead to diverse clinical manifestations. Pheochromocytoma is a peculiar endocrine tumour characterized by three major aspects. Its high heritability is related to the observation that germline mutations can be detected in about 40% of patients affected by pheochromocytoma. Moreover, somatic mutations can be identified in a big proportion of non-hereditary, sporadic tumours. To date, more than 20 genes
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