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BMC Cancer
Published in: BMC Cancer 1/2018

Open Access 01-12-2018 | Case report

Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report

Authors: Federica Isidori, Deborah Malvi, Silvia Fittipaldi, Claudio Forcato, Isotta Bozzarelli, Claudia Sala, Giovanni Raulli, Antonia D’Errico, Michelangelo Fiorentino, Marco Seri, Kausilia K. Krishnadath, Elena Bonora, Sandro Mattioli, EAC-BAGH group

Published in: BMC Cancer | Issue 1/2018

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Abstract

Background

We report on a female patient who underwent primary radical resection for a stage 2B Her-2-positive Barrett’s-type esophageal adenocarcinoma (EAC). Despite Her-2 targeted therapy, her disease recurred and required repeated metastectomies.

Case presentation

Digital cell sorting and targeted sequencing of cancer sub-clones from EAC and metastases revealed a completely mutated TP53, whereas the sorted stromal cells were wild-type. Her-2 amplification was significantly lower in the metastases when the patient became therapy-resistant.

Conclusions

The mechanism of therapy resistance illustrated by this case could only be detected through accurate analysis of tumor sub-populations.
Investigating tumor sub-populations of recurrent disease is important for adjusting therapy in recurrent EAC.
Appendix
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Metadata
Title
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report
Authors
Federica Isidori
Deborah Malvi
Silvia Fittipaldi
Claudio Forcato
Isotta Bozzarelli
Claudia Sala
Giovanni Raulli
Antonia D’Errico
Michelangelo Fiorentino
Marco Seri
Kausilia K. Krishnadath
Elena Bonora
Sandro Mattioli
EAC-BAGH group
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2018
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-018-4789-4

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