Heppe R K, Koyle M A, Beckwith J B
Department of Surgery, Children's Hospital, Denver, Colorado 80218.
J Urol. 1991 Jun;145(6):1225-8. doi: 10.1016/s0022-5347(17)38582-8.
The histological specimens from 12 patients with the Drash syndrome were identified from the National Wilms Tumor Study Group and reviewed for the presence of nephrogenic rests. Of 7 patients with the complete Drash syndrome 6 were evaluable for nephrogenic rests, including 5 (83%) who demonstrated intralobar nephrogenic rests. Of 5 (80%) partial Drash syndrome cases 4 (80%) were also intralobar nephrogenic rest positive. Neither group had perilobar nephrogenic rests identified. In a control population of Wilms tumor patients without the Drash syndrome only 39 of 274 (14%) with unilateral tumor had intralobar nephrogenic rests identified, whereas 26 of 92 (28%) bilateral cases had intralobar nephrogenic rests. There was a significantly higher rate of intralobar nephrogenic rests in complete and partial Drash syndrome cases than in the general Wilms tumor population (p less than 0.001). Wilms tumor patients with intralobar nephrogenic rests and the Drash syndrome present at a younger age and have a higher rate of bilaterality than rest negative Wilms tumor patients. The strong association of intralobar nephrogenic rests in the Drash syndrome approaches that found in the aniridia complex. However, in other syndromes associated with Wilms tumor, such as the Beckwith-Wiedemann syndrome and hemihypertrophy, there is a high prevalence of perilobar nephrogenic rests. In view of the high incidence of intralobar nephrogenic rests in complete and partial Drash syndrome patients, it is probable that events leading to Wilms tumor in patients with the Drash syndrome occur at an early stage in nephrogenesis.
从国家肾母细胞瘤研究组中识别出12例患有Drash综合征患者的组织学标本，并对其中肾源性残留的情况进行复查。在7例患有完全性Drash综合征的患者中，6例可评估肾源性残留情况，其中5例（83%）显示有叶内肾源性残留。在5例（80%）部分性Drash综合征病例中，4例（80%）叶内肾源性残留也呈阳性。两组均未发现叶旁肾源性残留。在一组无Drash综合征的肾母细胞瘤患者对照人群中，274例单侧肿瘤患者中仅39例（14%）发现有叶内肾源性残留，而92例双侧病例中有26例（28%）有叶内肾源性残留。完全性和部分性Drash综合征病例中叶内肾源性残留的发生率显著高于一般肾母细胞瘤人群（p小于0.001）。有叶内肾源性残留且患有Drash综合征的肾母细胞瘤患者比无残留的肾母细胞瘤患者发病年龄更小，双侧性发生率更高。Drash综合征中叶内肾源性残留的强关联接近无虹膜综合征中的情况。然而，在其他与肾母细胞瘤相关的综合征中，如贝克威思-维德曼综合征和半侧肥大，叶旁肾源性残留的患病率很高。鉴于完全性和部分性Drash综合征患者中叶内肾源性残留的高发生率，患有Drash综合征的患者发生肾母细胞瘤的事件很可能发生在肾发生的早期阶段。
