| Literature DB >> 27965001 |
Nasim Khoshnam1, Haynes Robinson2, Michael R Clay1, Lauren R Schaffer1, Scott E Gillespie1, Bahig M Shehata3.
Abstract
Calcifying nested stromal-epithelial tumor (CNSET) is a rare neoplasm. In the 31 reported cases, CNSET is predominantly found in young girls and women. Beckwith-Wiedemann syndrome (BWS) (OMIM #130650) is an overgrowth syndrome with an increased risk to develop cancer. Associations have been seen between BWS and embryonal tumors, especially Wilms tumor, hepatoblastoma, and adrenocortical carcinoma. Here we report on a female patient with BWS who presented with CNSET. Two other cases with the same association have been reported, with our case representing the third such reported in the literature. Although we recognize a potential reporting bias we speculate that CNSET may represent an unrecognized addition to the spectrum of BWS tumorigenesis.Entities:
Keywords: Abnormal methylation at 11p15.5; Beckwith-Wiedemann syndrome (BWS); Calcifying nested stromal-epithelial tumor (CNSET); Uniparental disomy
Mesh:
Year: 2016 PMID: 27965001 DOI: 10.1016/j.ejmg.2016.12.001
Source DB: PubMed Journal: Eur J Med Genet ISSN: 1769-7212 Impact factor: 2.708