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 journalArticle

1 Citation (Scopus)

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 languageEnglish (US)
JournalCold Spring Harbor molecular case studies
Volume3
Issue number6
DOIs
StatePublished - Nov 1 2017
Externally publishedYes

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Adenocarcinoma
Breast
Transcriptome
Literature
Neoplasms
Vulva
Gene Expression Profiling
Therapeutics
Immunohistochemistry
Genome
Pathology
Breast Neoplasms
Drug Therapy
Datasets

Keywords

  • neoplasm of the breast
  • neoplasm of the genitourinary tract

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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 journalArticle

Grewal, JK, Eirew, P, Jones, M, Chiu, K, Tessier-Cloutier, B, Karnezis, A, Karsan, A, Mungall, A, Zhou, C, Yip, S, Tinker, AV, Laskin, J, Marra, M & Jones, SJM 2017, 'Detection and genomic characterization of a mammary-like adenocarcinoma', Cold Spring Harbor molecular case studies, vol. 3, no. 6. https://doi.org/10.1101/mcs.a002170
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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