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 | |
| State | Published - Nov 1 2017 |
| Externally published | Yes |
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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 journal › Article
}
TY - JOUR
T1 - Detection and genomic characterization of a mammary-like adenocarcinoma
AU - Grewal, Jasleen K.
AU - Eirew, Peter
AU - Jones, Martin
AU - Chiu, Kenrry
AU - Tessier-Cloutier, Basile
AU - Karnezis, Anthony
AU - Karsan, Aly
AU - Mungall, Andy
AU - Zhou, Chen
AU - Yip, Stephen
AU - Tinker, Anna V.
AU - Laskin, Janessa
AU - Marra, Marco
AU - Jones, Steven J.M.
PY - 2017/11/1
Y1 - 2017/11/1
N2 - 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.
AB - 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.
KW - neoplasm of the breast
KW - neoplasm of the genitourinary tract
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UR - http://www.scopus.com/inward/citedby.url?scp=85039763514&partnerID=8YFLogxK
U2 - 10.1101/mcs.a002170
DO - 10.1101/mcs.a002170
M3 - Article
C2 - 28877932
AN - SCOPUS:85039763514
VL - 3
JO - Cold Spring Harbor molecular case studies
JF - Cold Spring Harbor molecular case studies
SN - 2373-2873
IS - 6
ER -