Baylin S B, Hsu S H, Gann D S, Smallridge R C, Wells S A
Science. 1978 Jan 27;199(4327):429-31. doi: 10.1126/science.619463.
Inherited medullary thyroid carcinomas contain one form of glucose-6-phosphate dehydrogenase (G6PD) in black female patients who are mosaic in normal tissues for G6PD types A and B. The same individual may have several tumors each containing either G6PD A or G6PD B. The data suggest that the inherited defect is an initial mutation producing multiple clones of defective cells; each tumor then arises as a final mutation in one clone of these cells.
在患有遗传性甲状腺髓样癌的黑人女性患者中，其正常组织为葡萄糖-6-磷酸脱氢酶（G6PD）A 型和 B 型的嵌合体，肿瘤组织中含有其中一种 G6PD。同一个体可能有多个肿瘤，每个肿瘤要么含有 G6PD A 型，要么含有 G6PD B 型。这些数据表明，遗传缺陷是一种初始突变，产生多个缺陷细胞克隆；每个肿瘤随后作为这些细胞中一个克隆的最终突变而出现。
