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

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


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.