title: Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome.
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.
authors.affiliation: Emory University School of Medicine, Department of Pathology, Atlanta, GA 30332, USA.
authors.forename: Nasim
authors.initials: N
authors.lastname: Khoshnam
authors.affiliation: Akron's Children's Hospital, Department of Medical Genetics, Akron, OH 44308, USA.
authors.forename: Haynes
authors.initials: H
authors.lastname: Robinson
authors.affiliation: Emory University School of Medicine, Department of Pathology, Atlanta, GA 30332, USA.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Clay
authors.affiliation: Emory University School of Medicine, Department of Pathology, Atlanta, GA 30332, USA.
authors.forename: Lauren R
authors.initials: LR
authors.lastname: Schaffer
authors.affiliation: Emory University School of Medicine, Department of Pathology, Atlanta, GA 30332, USA.
authors.forename: Scott E
authors.initials: SE
authors.lastname: Gillespie
authors.affiliation: Emory University School of Medicine, Department of Pathology, Atlanta, GA 30332, USA. Electronic address: bshehat@emory.edu.
authors.forename: Bahig M
authors.initials: BM
authors.lastname: Shehata
mesh_terms: D000293:Adolescent; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics* / Q000473:pathology; D019175:DNA Methylation / Q000235:genetics*; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008099:Liver / Q000473:pathology*; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology; D017154:Stromal Cells / Q000473:pathology; D009396:Wilms Tumor / Q000235:genetics / Q000473:pathology
keywords: Abnormal methylation at 11p15.5; Beckwith-Wiedemann syndrome (BWS); Calcifying nested stromal-epithelial tumor (CNSET); Uniparental disomy