Research Papers:

Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma

Lucile Broncy, Basma Ben Njima, Arnaud Méjean, Christophe Béroud, Khaled Ben Romdhane, Marius Ilie, Veronique Hofman, Jane Muret, Paul Hofman, Habiba Chaabouni Bouhamed and Patrizia Paterlini-Bréchot _

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Oncotarget. 2018; 9:20058-20074. https://doi.org/10.18632/oncotarget.25102

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Lucile Broncy1, Basma Ben Njima2, Arnaud Méjean3, Christophe Béroud4,5, Khaled Ben Romdhane2, Marius Ilie6, Veronique Hofman6, Jane Muret7, Paul Hofman6, Habiba Chaabouni Bouhamed2, and Patrizia Paterlini-Bréchot1,8

1INSERM Unit 1151, Faculté de Médecine Paris Descartes, Paris, France

2Genetics and Pathology Departments, University of Tunis, Tunis, Tunisia

3Service d’Urologie, Hôpital Européen Georges Pompidou, Paris, France

4Aix Marseille University, INSERM, MMG, Marseille, France

5APHM, Hôpital TIMONE Enfants, Laboratoire de Génétique Moléculaire, Marseille, France

6Laboratoire de pathologie clinique et Biobank BB-0033-00025, Centre Hospitalo-Universitaire de Nice, Nice, France

7Institut Curie, PSL Research University, Département d’Anesthésie Réanimation Douleur, Paris, France

8Laboratoire de Biochimie A, Hôpital Necker-Enfants Malades, Paris, France

Correspondence to:

Patrizia Paterlini-Bréchot, email: [email protected]

Keywords: liquid biopsy; circulating cancer cells; ISET® (Isolation by Size of Tumour/Trophoblastic Cells) technology; clear cell renal cell carcinoma; VHL mutation

Received: October 07, 2017     Accepted: March 24, 2018     Published: April 13, 2018


Context: Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to cytomorphology. Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene.

Aim: To match blind genetic analysis of CRC and tumor samples with CRC cytopathological diagnosis.

Results: 29/30 patients harboured CRC (20 harboured CCC, 29 CRC-UMF) and 25/29 patients carried VHL mutations in their tumour. 205 single CRC (64 CCC, 141 CRC-UMF) provided genetic data. 57/57 CCC and 104/125 CRC-UMF from the 25 patients with VHL-mutated tumor carried the same VHL mutation detected in the tumor. Seven CCC and 16 CRC-UMF did not carry VHL mutations but were found in patients with wild-type VHL tumor tissue.

Conclusions: All the CCC and 83,2% (104/125) of the CRC-UMF were found to carry the same VHL mutation identified in the corresponding tumorous tissue, validating cytopathological identification of CCC in patients with clear cell renal cell carcinoma.

Methods: The blood of 30 patients with clear cell renal cell carcinoma was treated by ISET® for CRC isolation, cytopathology and single-cell VHL mutations analysis, performed blindly and compared to VHL mutations of corresponding tumor tissues and leukocytes.

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