Detection and genomic characterization of a mammary-like adenocarcinoma

Jasleen K. Grewal; Peter Eirew; Martin Jones; Kenrry Chiu; Basile Tessier-Cloutier; Anthony Karnezis; Aly Karsan; Andy Mungall; Chen Zhou; Stephen Yip; Anna V. Tinker; Janessa Laskin; Marco Marra; Steven J.M. Jones

doi:10.1101/mcs.a002170

Detection and genomic characterization of a mammary-like adenocarcinoma

Jasleen K. Grewal, Peter Eirew, Martin Jones, Kenrry Chiu, Basile Tessier-Cloutier, Anthony Karnezis, Aly Karsan, Andy Mungall, Chen Zhou, Stephen Yip, Anna V. Tinker, Janessa Laskin, Marco Marra, Steven J.M. Jones

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

Whole-genome and transcriptome sequencing were performed to identify potential therapeutic strategies in the absence of viable treatment options for a patient initially diagnosed with vulvar adenocarcinoma. Genomic events were prioritized by comparison against variant distributions in the TCGA pan-cancer data set and complemented with detailed transcriptome sequencing and copy-number analysis. These findings were considered against published scientific literature in order to evaluate the functional effects of potentially relevant genomic events. Analysis of the transcriptome against a background of 27 TCGA cancer types led to reclassification of the tumor as a primary HER2+ mammary-like adenocarcinoma of the vulva. This revised diagnosis was subsequently confirmed by follow-up immunohistochemistry for a mammary-like adenocarcinoma. The patient was treated with chemotherapy and targeted therapies for HER2+ breast cancer. The detailed pathology and genomic findings of this case are presented herein.

Original language	English (US)
Journal	Cold Spring Harbor molecular case studies
Volume	3
Issue number	6
DOIs	https://doi.org/10.1101/mcs.a002170
State	Published - Nov 1 2017
Externally published	Yes

Keywords

neoplasm of the breast
neoplasm of the genitourinary tract

ASJC Scopus subject areas

Medicine(all)

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10.1101/mcs.a002170

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Detection and genomic characterization of a mammary-like adenocarcinoma. / Grewal, Jasleen K.; Eirew, Peter; Jones, Martin; Chiu, Kenrry; Tessier-Cloutier, Basile; Karnezis, Anthony; Karsan, Aly; Mungall, Andy; Zhou, Chen; Yip, Stephen; Tinker, Anna V.; Laskin, Janessa; Marra, Marco; Jones, Steven J.M.

In: Cold Spring Harbor molecular case studies, Vol. 3, No. 6, 01.11.2017.

Research output: Contribution to journal › Article › peer-review

Grewal, Jasleen K. ; Eirew, Peter ; Jones, Martin ; Chiu, Kenrry ; Tessier-Cloutier, Basile ; Karnezis, Anthony ; Karsan, Aly ; Mungall, Andy ; Zhou, Chen ; Yip, Stephen ; Tinker, Anna V. ; Laskin, Janessa ; Marra, Marco ; Jones, Steven J.M. / Detection and genomic characterization of a mammary-like adenocarcinoma. In: Cold Spring Harbor molecular case studies. 2017 ; Vol. 3, No. 6.

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