NCI Definition: A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma. [1]

Anal neoplasms most frequently harbor alterations in PIK3CA, KMT2D, FBXW7, SOX2, and BCL6 [2].

Most Commonly Altered Genes in Anal Neoplasm

PIK3CA Mutation, PIK3CA Codon 545 Missense, PIK3CA E545K, KMT2D Mutation, and SOX2 Amplification are the most common alterations in anal neoplasm [2].

Top Alterations in Anal Neoplasm

Disease Details

Anal Tumor, Anus Neoplasm, Neoplasm of the Anus, Tumor of the Anus, Neoplasm of Anus, Anal Tumors, Anal Neoplasms, Benign and Malignant, Tumor of Anus
Digestive System Neoplasm
Anal Leiomyoma, Anal Intraepithelial Neoplasia, Anal Canal Neuroendocrine Neoplasm, and Malignant Anal 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 8. 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.