In:
Molecular Case Studies, Cold Spring Harbor Laboratory, Vol. 4, No. 5 ( 2018-10), p. a003004-
Abstract:
Neuroendocrine tumors (NETs) arising from tailgut cysts are a rare but increasingly reported entity with gene expression profiles that may be indicative of the gastrointestinal cell of origin. We present a case report describing the unique pathological and genomic characteristics of a tailgut cyst NET that metastasized to liver. The histologic and immunohistochemical findings were consistent with a well-differentiated NET. Genomic testing indicates a germline frameshift in BRCA1 and a few somatic mutations of unknown significance. Transcriptomic analysis suggests an enteroendocrine L cell in the tailgut as a putative cell of origin. Genomic profiling of a rare NET and metastasis provides insight into its origin, development, and potential therapeutic options.
Type of Medium:
Online Resource
ISSN:
2373-2865
,
2373-2873
Language:
English
Publisher:
Cold Spring Harbor Laboratory
Publication Date:
2018
detail.hit.zdb_id:
2835759-0