Wilms’ Tumour – Histology and Differential Diagnosis

Excerpt

Wilms’ tumour (WT) is the most common paediatric renal tumour, which can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, WT comprises three histological components namely blastemal, epithelial and stromal. The proportion and the degree of maturation of these components vary significantly, making the histological appearance of each tumour unique. Classical triphasic WT rarely presents diagnostic difficulty for pathologists, but when only one component is present, especially in a small biopsy specimen, the differential diagnosis may include renal cell carcinoma, metanephric adenoma and hyperplastic nephrogenic rest for epithelial elements and clear cell sarcoma of the kidney, mesoblastic nephroma and synovial sarcoma for stromal elements. Pure blastemal-type WT may be difficult to distinguish from other embryonal ‘small round blue cell tumours’, including neuroblastoma, primitive neuroectodermal tumour/Ewing sarcoma, desmoplastic small round cell tumour and lymphoma. All the three components, though usually blastema, can become anaplastic, leading to the diagnosis of either focal or diffuse anaplasia. WT with diffuse anaplasia and WT with blastemal predominance (after preoperative chemotherapy) are regarded as high-risk tumours and require more aggressive treatment. Careful assessment of the tumour and the normal kidney is critical for accurate subtyping and staging of WT, which is the basis for post-operative treatment. In addition, the identification and correct interpretation of nephrogenic rests may affect prognosis and management. Histological distinction between WT and nephrogenic rest is not always possible based on morphology alone, and implementation of new molecular genetic tools may aid in this regard. Other molecular genetic signatures of WT, such as P53 mutation and MYCN dysregulation, may provide future additional prognostic and therapeutic information.