Article
Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease.
Cold Spring Harbor molecular case studies - 1 Oct 2019
Momen Sophie, Fassihi Hiva, Davies Helen R, Nikolaou Christos, Degasperi Andrea, Stefanato Catherine M, Dias Joao M L, Dasgupta Dhruba, Craythorne Emma, Sarkany Robert, Papa Sophie, Nik-Zainal Serena
Abstract excerpt
"Mutational signatures" are patterns of mutations that report DNA damage and subsequent repair processes that have occurred. Whole-genome sequencing (WGS) can provide additional information to standard diagnostic techniques and can identify therapeutic targets. A 32-yr-old male with xeroderma pigmentosum developed metastatic angiosarcoma that was unresponsive to three lines of conventional sarcoma therapies. WGS...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.