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

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

by informer
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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. The aim of this article is to integrate clinicopathological data with genomic analysis of aggressive, rapidly-progressing de novo metastatic EMPD responding to HER2-directed treatment in combination with other agents, to attain a more comprehensive understanding of the disease.

HER2 overexpression is demonstrated through immunohistochemical staining of the scrotal wall tumor and bone marrow metastasis. Whole genome sequencing of the tumor.

Whole genome sequencing reveals 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 contributes to the HER2 overexpression and observed response to HER2-directed therapy combined with other agents in a comprehensive treatment regimen. Read the full article here.

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