NCI Definition: A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva. [1]

Extramammary Paget diseases most frequently harbor alterations in PIK3CA, ERBB2, KMT2C, and TP53 [2].

Most Commonly Altered Genes in Extramammary Paget Disease

PIK3CA Mutation, ERBB2 Mutation, TP53 Mutation, TP53 Missense, and KMT2C Mutation are the most common alterations in extramammary Paget disease [2].

Top Alterations in Extramammary Paget Disease

Disease Details

Paget Disease Extramammary, Paget's Disease of the Skin, Paget's Disease of Skin, Paget's Skin Disease, Cutaneous Paget's Disease, Extramammary Paget's Disease
Paget Disease
Paget Disease of the Vulva, Paget Disease of the Anus, Paget Disease of the Penis, and Paget Disease of the Scrotum
OncoTree Name
Extramammary Paget Disease
OncoTree Code


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.