Iatrogenic endometriosis harbors somatic cancer-driver mutations

医源性子宫内膜异位症含有躯体癌症驱动突变

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作者:V Lac, L Verhoef, R Aguirre-Hernandez, T M Nazeran, B Tessier-Cloutier, T Praetorius, N L Orr, H Noga, A Lum, J Khattra, L M Prentice, D Co, M Köbel, V Mijatovic, A F Lee, J Pasternak, M C Bleeker, B Krämer, S Y Brucker, F Kommoss, S Kommoss, H M Horlings, P J Yong, D G Huntsman, M S Anglesio

Methods

Archival tissue specimens containing endometriotic lesions were macrodissected and/or laser-capture microdissected to enrich endometriotic stroma and epithelium and a hypersensitive cancer hotspot sequencing panel was used to assess for presence of somatic mutations. Mutations were subsequently validated using droplet digital PCR. PTEN and ARID1A immunohistochemistry (IHC) were performed as surrogates for somatic events resulting in functional loss of respective proteins. Main

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