Unknown

Dataset Information

0

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

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.

SUBMITTER: Erdrich J 

PROVIDER: S-EPMC6169824 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Erdrich Jennifer J   Schaberg Kurt B KB   Khodadoust Michael S MS   Zhou Li L   Shelton Andrew A AA   Visser Brendan C BC   Ford James M JM   Alizadeh Ash A AA   Quake Stephen R SR   Kunz Pamela L PL   Beausang John F JF  

Cold Spring Harbor molecular case studies 20181001 5

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 <i>BRCA1</i> and a few  ...[more]

Similar Datasets

Unknown Primary Ovarian Neuroendocrine Carcinoid Tumor Arising in a Mature Cystic Teratoma.
| S-EPMC10018419 | biostudies-literature
Unknown Surgical resection of the primary tumor leads to prolonged survival in metastatic pancreatic neuroendocrine carcinoma.
| S-EPMC6429809 | biostudies-literature
Unknown Surgical resection of primary tumor improves survival of pancreatic neuroendocrine tumor with liver metastases.
| S-EPMC5668092 | biostudies-other
Unknown Primary Tumor Resection Offers Survival Benefit in Patients with Metastatic Midgut Neuroendocrine Tumors.
| S-EPMC10184500 | biostudies-literature
Unknown Neuroendocrine tumor arising from the greater omentum treated with laparoscopic tumor resection: a case report.
| S-EPMC8167924 | biostudies-literature
Unknown Molecular characterization of tumor cells from the cerebrospinal fluid and matched primary tumors from metastatic breast cancer patients with leptomeningeal disease
| S-ECPF-GEOD-46068 | biostudies-other
Transcriptomics Molecular characterization of tumor cells from the cerebrospinal fluid and matched primary tumors from metastatic breast cancer patients with leptomeningeal disease
2014-01-09 | E-GEOD-46068 | biostudies-arrayexpress
Unknown Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencing.
| S-EPMC5793777 | biostudies-literature
Genomics Molecular characterization of tumor cells from the cerebrospinal fluid and matched primary tumors from metastatic breast cancer patients with leptomeningeal disease
2014-01-09 | GSE46068 | GEO
Transcriptomics Molecular characterization of colorectal cancer-related peritoneal metastatic disease
2022-06-01 | GSE183917 | GEO