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

• 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
• ISSN: 2373-2865; 2373-2873
• DOI: 10.1101/mcs.a003004

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.