Research of SDHB as Malignant marker and oncogenesis in malignant pheochromocytomas

在日本恶性嗜铬细胞瘤患者中，我们检测到10例SDHB突变，其中包括大缺失。此外，我们还检测了与双侧肾上腺嗜铬细胞瘤的2q缺失杂合性丢失相关的胚系TMEM127突变(c.116_1delTGTC，p.Ile41ArgfsX39)。我们首次提出了一种假设，即在恶性嗜铬细胞瘤中观察到的舒尼替尼的抗肿瘤作用似乎与对肿瘤细胞的直接作用有关。

In Japanese malignant pheochromocytoma patients, we detected SDHB mutation in 10 cases, including large deletion. Also, we detected germline TMEM127 mutation (c.116_119delTGTC, p.Ile41ArgfsX39) associated with 2q deletion loss of heterozygosity with bilateral adrenal pheochromocytoma. We have, for the first time, introduced the hypothesis that the antitumor effect of sunitinib observed in malignant pheochromocytomas seems to be associated with direct effects on tumor cells.