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 be...

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Bibliographic Details
Published in:European journal of medical genetics 2017-02, Vol.60 (2), p.136-139
Main Authors: Khoshnam, Nasim, Robinson, Haynes, Clay, Michael R, Schaffer, Lauren R, Gillespie, Scott E, Shehata, Bahig M
Format: Article
Language:English
Subjects:
Abnormal methylation at 11p15.5
Adolescent
Beckwith-Wiedemann syndrome (BWS)
Beckwith-Wiedemann Syndrome - genetics
Beckwith-Wiedemann Syndrome - pathology
Calcifying nested stromal-epithelial tumor (CNSET)
DNA Methylation - genetics
Female
Genomic Imprinting
Humans
Liver - pathology
Liver Neoplasms - genetics
Liver Neoplasms - pathology
Medical Education
Stromal Cells - pathology
Uniparental disomy
Wilms Tumor - genetics
Wilms Tumor - pathology
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2016.12.001