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

Authors :
Isidori, Federica
Malvi, Deborah
Fittipaldi, Silvia
Forcato, Claudio
Bozzarelli, Isotta
Sala, Claudia
Raulli, Giovanni
D'Errico, Antonia
Fiorentino, Michelangelo
Seri, Marco
Krishnadath, Kausilia K.
Bonora, Elena
Mattioli, Sandro
Lugaresi, Maria Luisa
D'Errico, Antonietta
Castellani, Gastone
Fiocca, Roberto
Mastracci, Luca
Räsänen, Jari
Söderström, Henna
CCA - Imaging and biomarkers
Gastroenterology and Hepatology
AGEM - Re-generation and cancer of the digestive system
Isidori, Federica
Malvi, Deborah
Fittipaldi, Silvia
Forcato, Claudio
Bozzarelli, Isotta
Sala, Claudia
Raulli, Giovanni
D'Errico, Antonia
Fiorentino, Michelangelo
Seri, Marco
Krishnadath, Kausilia K.
Bonora, Elena
Mattioli, Sandro
Lugaresi, Maria Luisa
Castellani, Gastone
Fiocca, Roberto
Mastracci, Luca
Räsänen, Jari
Söderström, Henna
Source :
BMC Cancer, Vol 18, Iss 1, Pp 1-6 (2018), BMC cancer, 18(1):889. BioMed Central, BMC Cancer
Publication Year :
2018
Publisher :
BMC, 2018.

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. Electronic supplementary material The online version of this article (10.1186/s12885-018-4789-4) contains supplementary material, which is available to authorized users.

Details

Language :
English
ISSN :
14712407
Volume :
18
Issue :
1
Database :
OpenAIRE
Journal :
BMC Cancer
Accession number :
edsair.doi.dedup.....066e7cd45d69ef11d66a40e8d6629bae
Full Text :
https://doi.org/10.1186/s12885-018-4789-4