Associated Genetic Biomarkers


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, RET, KMT2D, and KRAS [2].

Most Commonly Altered Genes in Neuroendocrine Carcinoma

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 c.142-c.212 Missense, TP53 c.1-c.137 Missense, and TP53 Missense are the most common alterations in neuroendocrine carcinoma [2].

Top Alterations in Neuroendocrine Carcinoma

Biomarker-Directed Therapies

Significant Genes in Neuroendocrine Carcinoma




MLH1 +

MSH2 +

MSH6 +

PMS2 +


Disease Details

Neuroendocrine cancer, NOS, Neuroendocrine Cell Carcinoma, CARCINOMA, NEUROENDOCRINE CELL, MALIGNANT, NEC
Neuroendocrine Neoplasm
Small Cell Carcinoma, Colorectal Neuroendocrine Carcinoma, Uterine Corpus Neuroendocrine Neoplasm, Esophageal Neuroendocrine Carcinoma, Head and Neck Neuroendocrine Carcinoma, Thyroid Gland Medullary Carcinoma, Cervical Neuroendocrine Carcinoma, Large Cell Neuroendocrine Carcinoma, Pancreatic Neuroendocrine Carcinoma, Neuroendocrine Carcinoma, NOS, and Merkel Cell Carcinoma


1. National Cancer Institute. NCI Thesaurus Version 18.11d. [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 4. 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.