Diagnostic accuracy of circulating-free DNA for the determination of MYCN amplification status in advanced-stage neuroblastoma: a systematic review and meta-analysis

Trigg, Ricky M and Turner, Suzanne D and Shaw, Jacqueline A and Jahangiri, Leila (2020) Diagnostic accuracy of circulating-free DNA for the determination of MYCN amplification status in advanced-stage neuroblastoma: a systematic review and meta-analysis. British Journal of Cancer. ISSN 0007-0920

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Abstract

Background
MYCN amplification (MNA) is the strongest indicator of poor prognosis in neuroblastoma (NB). This meta-analysis aims to determine the diagnostic accuracy of MNA analysis in circulating-free DNA (cfDNA) from advanced-stage NB patients.

Methods
A systematic review of electronic databases was conducted to identify studies exploring the detection of MNA in plasma/serum cfDNA from NB patients at diagnosis using PCR methodology. Pooled estimates for sensitivity, specificity and diagnostic odds ratio (DOR) were calculated by conducting a bivariate/HSROC random-effects meta-analysis.

Results
Seven studies, with a total of 529 advanced-stage patients, were eligible. The pooled sensitivity of cfDNA-based MNA analysis was 0.908 (95% CI, 0.818–0.956), the pooled specificity was 0.976 (0.940–0.991) and the DOR was 410.0 (−103.6 to 923.7). Sub-grouped by INSS stage, the sensitivity for stage 3 and 4 patients was 0.832 (0.677–0.921) and 0.930 (0.834–0.972), respectively. The specificity was 0.999 (0.109–1.000) and 0.974 (0.937–0.990), respectively, and the DOR was 7855.2 (−66267.0 to 81977.4) and 508.7 (−85.8 to 1103.2), respectively.

Conclusions
MNA analysis in cfDNA using PCR methodology represents a non-invasive approach to rapidly and accurately determine MNA status in patients with advanced-stage NB. Standardised methodology must be developed before this diagnostic test can enter the clinic.

Item Type:	Article
Identification Number:	10.1038/s41416-020-0740-y
Dates:	Date Event 15 January 2020 Accepted 4 February 2020 Published Online
Uncontrolled Keywords:	Diagnostic markers Paediatric cancer
Subjects:	CAH01 - medicine and dentistry > CAH01-01 - medicine and dentistry > CAH01-01-01 - medical sciences (non-specific)
Divisions:	Faculty of Health, Education and Life Sciences > College of Health and Care Professions
Depositing User:	Leila Jahangiri
Date Deposited:	22 Jan 2020 08:27
Last Modified:	12 Jan 2022 11:13
URI:	https://www.open-access.bcu.ac.uk/id/eprint/8726

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