Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome

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• 作者：Nasim Khoshnam^a ; Haynes Robinson^b ; Michael R. Clay^a ; Lauren R. Schaffer^a ; Scott E. Gillespie^a ; Bahig M. Shehata^a ; ^{bshehat@emory.edu}
• 关键词：Calcifying nested stromal-epithelial tumor (CNSET) ; Beckwith-Wiedemann syndrome (BWS) ; Uniparental disomy ; Abnormal methylation at 11p15.5
• 刊名：European Journal of Medical Genetics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：60
• 期：2
• 页码：136-139
• 全文大小：1617 K
• 卷排序：60

文摘

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.