Diseases /
Extramammary Paget Disease
Overview
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].
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].
Clinical Trials
Disease Details
References
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.