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 TP53, PIK3CA, ERBB2, KMT2C, and KMT2D [2].

Most Commonly Altered Genes in Extramammary Paget Disease

TP53 Mutation, PIK3CA Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, and ERBB2 Mutation are the most common alterations in extramammary Paget disease [2].

Top Alterations in Extramammary Paget Disease

Disease Details

Paget Disease Extramammary, Cutaneous Paget's Disease, Paget's Disease of the Skin, Paget's Disease of Skin, Extramammary Paget's Disease, Paget's Skin Disease
Paget Disease
Paget Disease of the Vulva, Paget Disease of the Anus, Paget Disease of the Scrotum, and Paget Disease of the Penis
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 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.