Whole Genome Sequencing of HER2-Positive Metastatic Extramammary Paget’s Disease: A Case Report

Extramammary Paget’s disease (EMPD) is a rare cancer that occurs within the epithelium of the skin. Whole genome sequencing of the tumor and matched blood was performed. Whole genome sequencing revealed the underlying copy number variation landscape in HER2-positive metastatic EMPD. The presence of alternative signalling pathways and genetic variants suggests potential interactions with HER2 signalling, which possibly contributed to the HER2 overexpression and observed response to HER2-directed therapy combined with other agents in a comprehensive treatment regimen.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000358	Single patient case of HER2-Positive Metastatic Extramammary Paget’s Disease	Illumina NovaSeq 6000	2

Publications	Citations
Whole genome sequencing of HER2-positive metastatic extramammary Paget's disease: a case report. Lim BY, Guo Z, Lim JQ, Ko TK, Lee ECY, Kannan B, Lee JY, Lim AH, Li Z, Ng CC, Busmanis I, Chan JY. Orphanet J Rare Dis 19: 2024 223	0