Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report
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
Affiliations
Federica Isidori
PhD program in Cardio-Nephro-Thoracic Sciences, University of Bologna
Deborah Malvi
Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Institute of Oncology and Transplant Pathology, University of Bologna, Policlinico St. Orsola-Malpighi Hospital
Silvia Fittipaldi
Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Institute of Oncology and Transplant Pathology, University of Bologna, Policlinico St. Orsola-Malpighi Hospital
Claudio Forcato
Menarini Silicon Biosystems
Isotta Bozzarelli
PhD program in Cardio-Nephro-Thoracic Sciences, University of Bologna
Claudia Sala
Department of Physics and Astronomy, University of Bologna
Giovanni Raulli
Unit of Pathology – AUSL Romagna
Antonia D’Errico
Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Institute of Oncology and Transplant Pathology, University of Bologna, Policlinico St. Orsola-Malpighi Hospital
Michelangelo Fiorentino
Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Institute of Oncology and Transplant Pathology, University of Bologna, Policlinico St. Orsola-Malpighi Hospital
Marco Seri
Unit of Medical Genetics, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Policlinico St. Orsola-Malpighi Hospital
Kausilia K. Krishnadath
Center for Experimental and Molecular Medicine, Academic Medical Center, Department of Gastroenterology and Hepatology
Elena Bonora
Unit of Medical Genetics, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Policlinico St. Orsola-Malpighi Hospital
Sandro Mattioli
PhD program in Cardio-Nephro-Thoracic Sciences, University of Bologna
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.
