Nested Stromal Epithelial Tumor

• Published in: Applied radiology (1976) Vol. 52; no. 2; pp. 36 - 38
• Main Authors: Plitt, David D, Towbin, Richard B, Towbin, Alexander J
• Format: Journal Article
• Language: English
• Published: Scotch Plains Anderson Publishing Ltd 01-03-2023
• Subjects: Abdomen; Epithelium; Liver; Metastasis; Mutation; Pathogenesis; Patients; Proteins; Surveillance; Tumors; Ultrasonic imaging
• ISSN: 1879-2898; 0160-9963; 1879-2898
• DOI: 10.37549/AR2880

There have been approximately 40 reported cases since its first description as an ossifying stromal-epithelial tumor by Ishak et al in 2001.1 The name refers to the typical cellular arrangement of the tumors with nests of epithelial cells separated by stromal cells. Children affected by BWS are at increased risk of developing embryonal tumors - most commonly Wilms tumor (52% of all tumors), hepatoblastoma (14% of all tumors), and neuroblastoma (10% of all tumors).3 Because patients with BWS are at an increased risk of developing a tumor, surveillance imaging is recommended.3 While the recommendations differ based on an individual's specific mutation, most patients receive an ultrasound of the abdomen every 3 months until 7-years-of-age to evaluate for the common abdominal tumors.3 There is a known correlation between BWS and NSETs, with three reported cases of NSETs in patients with molecularly confirmed BWS and one in a patient with suspected BWS.4-6 Whether there is a causal relationship is unclear, but there are reasons to suspect such a link. NSETs in the setting of BWS have, in multiple cases, stained positively for Wilm tumor 1 (WT-1) protein.7 WT-1 is a multifunctional transcription factor that is thought to be involved in NSET pathogenesis, as it is a regulator of mesenchymal to epithelial transition.2 As WT-1 is also located on 11p it can be hypothesized that the epigenetic changes that induce BWS can also affect the WT-1 gene locus.