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

Jennifer Erdrich, Kurt B. Schaberg, Michael S. Khodadoust, Li Zhou, Andrew A. Shelton, Brendan C. Visser, James M. Ford, Ash A. Alizadeh, Stephen R. Quake, Pamela L. Kunz, John F. Beausang

Research output: Contribution to journalArticle

3 Scopus citations

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.

Original languageEnglish (US)
JournalCold Spring Harbor molecular case studies
Volume4
Issue number5
DOIs
StatePublished - Oct 1 2018
Externally publishedYes

Keywords

  • neoplasm of the gastrointestinal tract
  • neuroendocrine neoplasm

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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    Erdrich, J., Schaberg, K. B., Khodadoust, M. S., Zhou, L., Shelton, A. A., Visser, B. C., Ford, J. M., Alizadeh, A. A., Quake, S. R., Kunz, P. L., & Beausang, J. F. (2018). Surgical and molecular characterization of primary and metastatic disease in a neuroendocrine tumor arising in a tailgut cyst. Cold Spring Harbor molecular case studies, 4(5). https://doi.org/10.1101/mcs.a003004