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 journalArticlepeer-review

8 Scopus citations


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 languageEnglish (US)
JournalCold Spring Harbor molecular case studies
Issue number6
StatePublished - Nov 1 2017
Externally publishedYes


  • neoplasm of the breast
  • neoplasm of the genitourinary tract

ASJC Scopus subject areas

  • Medicine(all)


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