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.

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

Isidori, Federica;Malvi, Deborah;Fittipaldi, Silvia;Bozzarelli, Isotta;Sala, Claudia;D'Errico, Antonia;Fiorentino, Michelangelo;Seri, Marco;Bonora, Elena
;
Mattioli, Sandro;Castellani, Gastone;Fiocca, Roberto;Mastracci, Luca;
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.
2018
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
File in questo prodotto:
File Dimensione Formato  
Isidori2018.pdf

accesso aperto

Descrizione: pdf dell'articolo
Tipo: Versione (PDF) editoriale
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 4.64 MB
Formato Adobe PDF
4.64 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/663289
Citazioni
  • ???jsp.display-item.citation.pmc??? 1
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 3
social impact