Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease: a case report

• Published in: Orphanet journal of rare diseases Vol. 19; no. 1; pp. 223 - 14
• Main Authors: Lim, Boon Yee, Guo, Zexi, Lim, Jing Quan, Ko, Tun Kiat, Lee, Elizabeth Chun Yong, Kannan, Bavani, Lee, Jing Yi, Lim, Abner Herbert, Li, Zhimei, Ng, Cedric Chuan-Young, Busmanis, Inny, Chan, Jason Yongsheng
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 03.06.2024; BioMed Central; BMC
• Subjects: Aged; Analysis; Care and treatment; Diagnosis; DNA Copy Number Variations - genetics; DNA sequencing; ERBB2; Fibroblast growth factors; Humans; Male; Metastasis; Next generation sequencing; Nucleotide sequencing; Paget Disease, Extramammary - genetics; Paget Disease, Extramammary - metabolism; Paget Disease, Extramammary - pathology; Precision oncology; Receptor, ErbB-2 - genetics; Receptor, ErbB-2 - metabolism; Targeted therapy; Trastuzumab; Whole Genome Sequencing; Singapore; Precision oncology; Targeted therapy; Next generation sequencing; Trastuzumab; ERBB2

Extramammary Paget's disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predominantly in areas with high apocrine gland concentration such as the vulva, scrotum, penis and perianal regions. Here, we aim to integrate clinicopathological data with genomic analy...