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01.12.2018 | Ösophaguskarzinom | Case report | Ausgabe 1/2018 Open Access

BMC Cancer 1/2018

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

BMC Cancer > Ausgabe 1/2018
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
Wichtige Hinweise

Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1186/​s12885-018-4789-4) contains supplementary material, which is available to authorized users.



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.


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.
Additional file 1: Supplementary methods and metarials. (DOCX 79 kb)
Additional file 2: Figure S1. Plots of Copy Number Analysis and phylogenetic tree using WES data. A 18 Mb region on chromosome 6 (q21-22.33) is indicated (red box), where CNV analysis identified a copy gain in PT (A) and M1 (B), as reported in Additional file  1: Table S2. (C) In the second chest metastasis (M2) a focal amplification was detected in the 6q22.33 region, spanning RNF146 and ECHDC1 genes (black arrowhead). (D) SNPhylo analysis results, showing the genetic distance between the three tumor samples. Numbers indicate the branch length from central node. The distance between two tumors is equal to the sum of their branch length. Analysis was performed according to [ 6]. (PDF 137 kb)
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