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表 1 RET基因突变位点与HMTC侵袭性和PHEO、HPTH、CLA、HD发生率的相关性
RET突变位点 外显子 MTC侵袭风险等级 PHEO发生率 HPTH发生率 CLA HD G533C 8 MOD + - N N C609F/G/R/S/Y 10 MOD +/++ + N Y C611F/G/S/Y/W 10 MOD +/++ + N Y C618F/R/S 10 MOD +/++ + N Y C620F/R/S 10 MOD +/++ + N Y C630R/Y 11 MOD +/++ + N N D631Y 11 MOD +++ - N N C634F/G/R/S/W/Y 11 H +++ ++ Y N K666E 11 MOD + - N N E768D 13 MOD - - N N L790F 13 MOD + - N N V804L 14 MOD + + N N V804M 14 MOD + + Y N A883F 15 H +++ - N N S891A 15 MOD + + N N R912P 16 MOD - - N N M918T 16 HST +++ - N N MTC:甲状腺髓样癌;PHEO:肾上腺嗜铬细胞瘤;HPTH:甲状旁腺功能亢进;CLA:皮肤苔藓淀粉样变;HD:先天性巨结肠;MOD:中等风险;H:高风险;HST:最高风险;Y:阳性;N:阴性;+:≤10%;++:11%~30%;+++:31%~50% -
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