Open Access

EBioMedicine

, volume 44 , pages 431-438

Urinary TERT promoter mutations as non-invasive biomarkers for the comprehensive detection of urothelial cancer

Patrice Hodonou Avogbe ¹

ARNAUD MANEL ²

Emmanuel Vian ²

Geoffroy Durand ¹

Nathalie Forey ¹

Catherine Voegele ¹

Maria Zvereva ^{3, 4}

Sonia Meziani ¹

Berengere De Tilly ²

Gilles Polo ²

Olesia Lole ¹

Francois Pauline ¹

Tiffany M. Delhomme ¹

Sara Monteiro-Reis ⁵

Rui Henrique ⁶

Matthieu Foll ¹

Annette J. Dobson ¹

Carmen Jeronimo ⁶

Ismail Hosen ¹

Christine Carreira ¹

Behnoush Abedi-Ardekani ¹

Graham B. Byrnes ¹

J. McKay ¹

Ghislaine Scelo ¹

Florence Le Calvez-Kelm ¹

Hide authors affiliations Show authors affiliations: 6 affiliations

International Agency for Research on Cancer , IARC , Lyon, France |

Protestant Clinic of Lyon, Urology department, Lyon, France |

Faculty of Chemistry, Lomonosov Moscow State University, Moscow, Russia |

⁴

International Agency For Research on Cancer (IARC), Lyon, France |

⁵

Portuguese Oncology Institute of Porto, Research Center (CI-IPOP), Porto, Portugal |

⁶

Institute of Biomedical Sciences Abel Salazar, University of Porto (ICBAS-UP), Porto, Portugal |

Publication type: Journal Article

Publication date: 2019-06-01

Elsevier

EBioMedicine

scimago Q1

wos Q1

SJR: 3.591

CiteScore: 17.1

Impact factor: 10.8

ISSN: 23523964

DOI: 10.1016/j.ebiom.2019.05.004

Copy DOI

PubMed ID: 31122840

General Biochemistry, Genetics and Molecular Biology

General Medicine

Abstract

Background Recurrent mutations in the promoter of the telomerase reverse transcriptase (TERT) gene (C228T and C250T) detected in tumours and cells shed into urine of urothelial cancer (UC) patients are putative biomarkers for UC detection and monitoring. However, the possibility of detecting these mutations in cell-free circulating DNA (cfDNA) in blood and urine, or DNA from urinary exfoliated cells (cellDNA) with a single-gene sensitive assay has never been tested in a case-control setting. Methods We developed a single-plex assay (UroMuTERT) for the detection of low-abundance TERT promoter mutations. We tested 93 primary and recurrent UC cases and 94 controls recruited in France (blood, urine samples and tumours for the cases), and 50 primary UC cases and 50 controls recruited in Portugal (urinary exfoliated cell samples). We compared our assay with urine cytology. Findings In the French series, C228T or C250T were detected in urinary cfDNA or cellDNA in 81 cases (87·1%; 95% CI 78·6–93·2), and five controls (Specificity 94·7%; 95%CI 88·0–98·3), with 98·6% (95% CI 92·5–99·96) concordance in matched tumours. Detection rate in plasma cfDNA among cases was 7·1%. The UroMuTERT sensitivity was (i) highest for urinary cfDNA and cellDNA combined, (ii) consistent across primary and recurrent cases, tumour stages and grades, (iii) higher for low-risk non-muscle invasive UC (86·1%) than urine cytology (23·0%) (P < 0·0001) and (iv) 93·9% when combined with cytology. In the Portuguese series – the sensitivity and specificity for detection of UC with urinary cellDNA was 68·0% (95% CI 53·3–80·5) and 98·0% (95% CI 89·3–100·0). Interpretation TERT promoter mutations detected by the UroMuTERT assay in urinary DNA (cfDNA or cellDNA) show excellent sensitivity and specificity for the detection of UC, significantly outperforming that of urine cytology notably for detection of low-grade early stages UC. Fund French Cancer League; French Foster Research in Molecular Biology and European Commission FP7 Marie Curie COFUND.

Found

7 citations

Zvereva Maria

DSc in Chemistry, professor

101 publications, 1 288 citations

h-index: 19

Lomonosov Moscow State University

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GOST Copy

Avogbe P. H. et al. Urinary TERT promoter mutations as non-invasive biomarkers for the comprehensive detection of urothelial cancer // EBioMedicine. 2019. Vol. 44. pp. 431-438.

GOST all authors (up to 50) Copy

Avogbe P. H., MANEL A., Vian E., Durand G., Forey N., Voegele C., Zvereva M., Meziani S., De Tilly B., Polo G., Lole O., Pauline F., Delhomme T. M., Monteiro-Reis S., Henrique R., Foll M., Dobson A. J., Jeronimo C., Hosen I., Carreira C., Abedi-Ardekani B., Byrnes G. B., McKay J., Scelo G., Le Calvez-Kelm F. Urinary TERT promoter mutations as non-invasive biomarkers for the comprehensive detection of urothelial cancer // EBioMedicine. 2019. Vol. 44. pp. 431-438.

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RIS Copy

TY - JOUR

DO - 10.1016/j.ebiom.2019.05.004

UR - https://doi.org/10.1016/j.ebiom.2019.05.004

TI - Urinary TERT promoter mutations as non-invasive biomarkers for the comprehensive detection of urothelial cancer

T2 - EBioMedicine

AU - Avogbe, Patrice Hodonou

AU - MANEL, ARNAUD

AU - Vian, Emmanuel

AU - Durand, Geoffroy

AU - Forey, Nathalie

AU - Voegele, Catherine

AU - Zvereva, Maria

AU - Meziani, Sonia

AU - De Tilly, Berengere

AU - Polo, Gilles

AU - Lole, Olesia

AU - Pauline, Francois

AU - Delhomme, Tiffany M.

AU - Monteiro-Reis, Sara

AU - Henrique, Rui

AU - Foll, Matthieu

AU - Dobson, Annette J.

AU - Jeronimo, Carmen

AU - Hosen, Ismail

AU - Carreira, Christine

AU - Abedi-Ardekani, Behnoush

AU - Byrnes, Graham B.

AU - McKay, J.

AU - Scelo, Ghislaine

AU - Le Calvez-Kelm, Florence

PY - 2019

DA - 2019/06/01

PB - Elsevier

SP - 431-438

VL - 44

PMID - 31122840

SN - 2352-3964

ER -

BibTex

Cite this

BibTex (up to 50 authors) Copy

@article{2019_Avogbe,

author = {Patrice Hodonou Avogbe and ARNAUD MANEL and Emmanuel Vian and Geoffroy Durand and Nathalie Forey and Catherine Voegele and Maria Zvereva and Sonia Meziani and Berengere De Tilly and Gilles Polo and Olesia Lole and Francois Pauline and Tiffany M. Delhomme and Sara Monteiro-Reis and Rui Henrique and Matthieu Foll and Annette J. Dobson and Carmen Jeronimo and Ismail Hosen and Christine Carreira and Behnoush Abedi-Ardekani and Graham B. Byrnes and J. McKay and Ghislaine Scelo and Florence Le Calvez-Kelm},

title = {Urinary TERT promoter mutations as non-invasive biomarkers for the comprehensive detection of urothelial cancer},

journal = {EBioMedicine},

year = {2019},

volume = {44},

publisher = {Elsevier},

month = {jun},

url = {https://doi.org/10.1016/j.ebiom.2019.05.004},

pages = {431--438},

doi = {10.1016/j.ebiom.2019.05.004}

}

Publisher

Elsevier

Journal

EBioMedicine

scimago Q1

wos Q1

SJR

3.591

CiteScore

17.1

Impact factor

10.8

ISSN

23523964 (Print, Electronic)

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