NCI Definition: A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma. [1]

Neuroendocrine carcinomas most frequently harbor alterations in TP53, RB1, KMT2D, RET, and APC [2].

Most Commonly Altered Genes in Neuroendocrine Carcinoma

TP53 Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, RB1 Mutation, and KMT2D Mutation are the most common alterations in neuroendocrine carcinoma [2].

Top Alterations in Neuroendocrine Carcinoma

Significant Genes in Neuroendocrine Carcinoma





MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

PMS1 +

PMS2 +


Disease Details

CARCINOMA, NEUROENDOCRINE CELL, MALIGNANT, Neuroendocrine Cell Carcinoma, NEC, Neuroendocrine cancer, NOS
Neuroendocrine Neoplasm
Thyroid Gland Medullary Carcinoma, Esophageal Neuroendocrine Carcinoma, Cervical Neuroendocrine Carcinoma, Extrahepatic Bile Duct Neuroendocrine Carcinoma, Prostate Neuroendocrine Carcinoma, Gastric Neuroendocrine Carcinoma, Uterine Corpus Neuroendocrine Neoplasm, Head and Neck Neuroendocrine Carcinoma, Neuroendocrine Carcinoma of Unknown Primary, Neuroendocrine Carcinoma, NOS, Large Cell Neuroendocrine Carcinoma, Merkel Cell Carcinoma, Small Cell Carcinoma, Colorectal Neuroendocrine Carcinoma, and Pancreatic Neuroendocrine Carcinoma


1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.