Surgical and molecular characterization of primary and metastatic disease in a neuroendocrine tumor arising in a tailgut cyst

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 N...

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Bibliographic Details
Published in:Cold Spring Harbor molecular case studies 2018-10, Vol.4 (5), p.a003004
Main Authors: Erdrich, Jennifer, Schaberg, Kurt B, Khodadoust, Michael S, Zhou, Li, Shelton, Andrew A, Visser, Brendan C, Ford, James M, Alizadeh, Ash A, Quake, Stephen R, Kunz, Pamela L, Beausang, John F
Format: Article
Language:English
Subjects:
Aged
BRCA1 Protein - genetics
Carcinoid Tumor
Cysts - metabolism
Hamartoma - genetics
Hamartoma - pathology
Humans
Liver - pathology
Liver Neoplasms - metabolism
Male
Neoplasm Metastasis - pathology
Neuroendocrine Tumors - genetics
Neuroendocrine Tumors - pathology
Research Report
Sacrococcygeal Region - pathology
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Summary: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 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.
ISSN:2373-2865
2373-2873
DOI:10.1101/mcs.a003004