Wilimas J A, Dow L W, Douglass E C, Jenkins J J, Jacobson R J, Moohr J, Fialkow P J
Departments of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38101.
Am J Pediatr Hematol Oncol. 1991 Spring;13(1):26-8. doi: 10.1097/00043426-199121000-00006.
To assess the clonality of Wilms' tumor, glucose-6-phosphate dehydrogenase (G6PD) enzymes were studied in normal and tumor tissue from 11 black girls who were heterozygous for G6PD. Normal tissues expressed both A and B type G6PD, whereas only a single G6PD enzyme was found in all tumor specimens. These data support the clonal nature of Wilms' tumor. In the one patient with bilateral disease, type B G6PD was found in both a recurrence and a subsequent tumor in the contralateral kidney. This finding is consistent with either the chance occurrence of the same G6PD in independent tumors or persistence of the original malignant clone. Another patient, who presented with the nephroblastomatosis complex (a precursor of Wilms' tumor), also had only type B enzyme detected. Further studies in patients with bilateral disease or the nephroblastomatosis complex, including the use of molecular biologic probes, are needed to test the hypothesis that Wilms' tumor in these cases arises from a somatic mutation as a second event in persons with an underlying genetic alteration.
为评估肾母细胞瘤的克隆性，对11名葡萄糖-6-磷酸脱氢酶（G6PD）杂合子的黑人女孩的正常组织和肿瘤组织中的G6PD酶进行了研究。正常组织表达A和B型G6PD，而在所有肿瘤标本中仅发现一种G6PD酶。这些数据支持肾母细胞瘤的克隆性质。在1例双侧病变患者中，在复发肿瘤及对侧肾脏的后续肿瘤中均发现B型G6PD。这一发现与独立肿瘤中偶然出现相同G6PD或原始恶性克隆持续存在均相符。另1例表现为肾母细胞瘤病复合体（肾母细胞瘤的一种前驱病变）的患者也仅检测到B型酶。需要对双侧病变患者或肾母细胞瘤病复合体患者进行进一步研究，包括使用分子生物学探针，以验证在这些病例中肾母细胞瘤是由体细胞突变作为潜在遗传改变患者的第二个事件而产生这一假说。
