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

• Main 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
• Format: Article
• Language: English
• Published: BMC 2018-09-01
• Series: BMC Cancer
• Subjects: Esophageal adenocarcinoma; Next generation sequencing; Digital cell sorting
• Online Access: http://link.springer.com/article/10.1186/s12885-018-4789-4
• ISSN: 1471-2407

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.