Metastatic extramammary Paget's disease of scrotum responds completely to single agent trastuzumab in a hemodialysis patient: Case report, Molecular profiling and brief review of the literature

Peter Barth, Essel Dulaimi Al-Saleem, Kristin W. Edwards, Sherri Z. Millis, Yu Ning Wong, Daniel M. Geynisman

Research output: Contribution to journalArticlepeer-review

44 Scopus citations

Abstract

Extramammary Paget's disease (EMPD) is a rare cancer. Although EMPD is usually noninvasive and treated with local therapy, once metastatic the prognosis of EMPD is poor and treatment options are limited. We report a case of a complete response to single agent trastuzumab in a hemodialysis patient with metastatic Her2/neu overexpressed EMPD of the scrotum. Molecular profiling of his case as well as 12 other EMPD and 8 mammary Paget disease (MPD) cases was completed and revealed multiple biomarker aberrations. Overexpression of Her2 was frequently noted (30%-40%) in both EMPD and MPD patients and when present can be effectively treated with Her2 targeted agents. Trastuzumab therapy can be safely utilized in a hemodialysis patient. In addition, multiple protein overexpression and loss were seen in EMPD including PD-1, PD-L1, PTEN, and AR as well as PIK3CA mutation. Tese findings may lead to possible therapeutic interventions targeting these pathways in a disease with few effective treatment options.

Original languageEnglish
Article number895151
JournalCase Reports in Oncological Medicine
Volume2015
DOIs
StatePublished - 2015
Externally publishedYes

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