Skip to Main content Skip to Navigation
Theses

Isolation and molecular characterization of single circulating rare cells : developing innovative methods for predictive oncology and non-invasive prenatal diagnosis

Abstract : The aim of this doctoral research project is the development of reliable and reproducible methodological approaches enabling the genetic characterization of circulating rare cells (CRC) isolated by ISET® filtration (Rarecells®, France). The first application developed consists in detecting mutations of the VHL (Von Hippel Lindau) tumor suppressor gene in single CRC isolated from the blood of 30 patients patients with clear cell renal cell carcinoma (ccRCC), assessed according to the results obtained by cytopathological analysis. In parallel, genetic analysis of VHL mutations was conducted in the corresponding tumor tissues. Results revealed a potential complementarity of the molecular genetic approach targeted to single cells with the reference method of cytopathological analysis and suggested that combining both strategies could improve the sensitivity of circulating cancer cells’ detection in patients with ccRCC. A second application consisted in the development of an innovative approach for non-invasive prenatal diagnosis of recessive genetic diseases by analysis of rare trophoblastic cells collected from the cervix. Finally, further developments allowed to optimize high-throughput sequencing analyses and to apply them to single CRC isolated by ISET®. This approach, combined with the isolation of living CRC, enabled us to obtain broader genetic data from the whole exome and should foster innovative applications to both predictive oncology and non-invasive prenatal diagnosis.
Complete list of metadatas

Cited literature [730 references]  Display  Hide  Download

https://tel.archives-ouvertes.fr/tel-01915732
Contributor : Abes Star :  Contact
Submitted on : Thursday, November 8, 2018 - 1:01:53 AM
Last modification on : Tuesday, October 20, 2020 - 10:46:50 AM
Long-term archiving on: : Saturday, February 9, 2019 - 12:40:04 PM

File

73199_BRONCY_2017_archivage.pd...
Version validated by the jury (STAR)

Identifiers

  • HAL Id : tel-01915732, version 1

Citation

Lucile Broncy. Isolation and molecular characterization of single circulating rare cells : developing innovative methods for predictive oncology and non-invasive prenatal diagnosis. Cancer. Université Paris-Saclay, 2017. English. ⟨NNT : 2017SACLS391⟩. ⟨tel-01915732⟩

Share

Metrics

Record views

343

Files downloads

731