Ramani P, Cowell J K
Department of Histopathology, GOS Hospital for Children NHS Trust, London, U.K.
J Pathol. 1996 Jun;179(2):162-8. doi: 10.1002/(SICI)1096-9896(199606)179:2<162::AID-PATH545>3.0.CO;2-0.
WT1, the Wilms' tumour suppressor gene located at chromosome 11p13, plays an important role in the development of the kidney. It is mutated in 10 per cent of Wilms' tumours (WTs) and their putative precursors called nephrogenic rests (NRs). A sensitive immunohistochemical technique was established to localize the WT1 gene product in archival normal tissues and paediatric renal tumour samples. Strong nuclear signal was seen in the various sites such as the kidneys, gonads, and decidua. Nuclear immunoreactivity of variable intensity was also seen in the skeletal muscle, smooth muscle of urinary bladder, ureter, and arteries. All 28 WTs (including the anaplastic variant) showed the WT1 gene product in a varying proportion of the blastema, epithelium, and stroma. The anaplastic nuclei in six WTs showed an intensity of staining comparable to their adjacent favourable histology counterparts. All the intralobar and perilobar types of NR demonstrated the WT1 gene product. All three malignant rhabdoid tumours were positive, while three of four mesoblastic nephromas and a clear cell sarcoma were negative. These findings provide an insight into the interrelationships of these renal tumours.
WT1基因是位于11号染色体p13区域的威尔姆斯瘤抑癌基因，在肾脏发育过程中发挥着重要作用。在10%的威尔姆斯瘤（WT）及其所谓的前体肾源性剩余组织（NR）中，该基因会发生突变。我们建立了一种灵敏的免疫组织化学技术，用于在存档的正常组织和儿科肾肿瘤样本中定位WT1基因产物。在肾脏、性腺和蜕膜等不同部位可见强核信号。在骨骼肌、膀胱、输尿管和动脉的平滑肌中也可见强度不一的核免疫反应性。所有28例WT（包括间变性变体）在不同比例的胚芽组织、上皮组织和间质组织中均显示有WT1基因产物。6例WT中的间变性细胞核染色强度与其相邻的预后良好的组织学对应物相当。所有叶内型和叶周型NR均显示有WT1基因产物。所有3例恶性横纹肌样瘤均呈阳性，而4例中胚层肾瘤中的3例以及1例透明细胞肉瘤呈阴性。这些发现为深入了解这些肾肿瘤之间的相互关系提供了线索。
