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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
- 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.
- Subjects :
- 0301 basic medicine
Cancer Research
Esophageal Neoplasms
Receptor, ErbB-2
Biopsy
medicine.medical_treatment
Case Report
Somatic evolution in cancer
Targeted therapy
ErbB-2
0302 clinical medicine
Surgical oncology
Neoplasm Metastasis
Stage (cooking)
Esophageal Neoplasm
Tumor
medicine.diagnostic_test
Single Nucleotide
Genomics
lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Immunohistochemistry
Neoplasm Metastasi
Oncology
030220 oncology & carcinogenesis
Adenocarcinoma
Female
Esophageal adenocarcinoma
Human
Receptor
Stromal cell
Polymorphism, Single Nucleotide
lcsh:RC254-282
Clonal Evolution
03 medical and health sciences
Genetic
Next generation sequencing
Biomarkers, Tumor
Genetics
medicine
Humans
Polymorphism
Neoplasm Staging
Digital cell sorting, Esophageal adenocarcinoma, Next generation sequencing, Adenocarcinoma, Biomarkers, Tumor, Biopsy, Clonal Evolution, Esophageal Neoplasms, Female, Humans, Immunohistochemistry, Mutation, Neoplasm Metastasis, Neoplasm Staging, Polymorphism, Single Nucleotide, Receptor, ErbB-2, Genomics, Whole Genome Sequencing
Whole Genome Sequencing
business.industry
Cancer
medicine.disease
Digital cell sorting
030104 developmental biology
Mutation
Genomic
Cancer research
business
Biomarkers
Subjects
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