A Genomic Approach to Resolving Relapse versus Reinfection among Four Cases of Buruli Ulcer

PLoS Negl Trop Dis. 2015 Nov 30;9(11):e0004158. doi: 10.1371/journal.pntd.0004158. eCollection 2015 Nov.

Abstract

Background: Increased availability of Next Generation Sequencing (NGS) techniques allows, for the first time, to distinguish relapses from reinfections in patients with multiple Buruli ulcer (BU) episodes.

Methodology: We compared the number and location of single nucleotide polymorphisms (SNPs) identified by genomic screening between four pairs of Mycobacterium ulcerans isolates collected at the time of first diagnosis and at recurrence, derived from a collection of almost 5000 well characterized clinical samples from one BU treatment center in Benin.

Principal findings: The findings suggest that after surgical treatment-without antibiotics-the second episodes were due to relapse rather than reinfection. Since specific antibiotics were introduced for the treatment of BU, the one patient with a culture available from both disease episodes had M. ulcerans isolates with a genomic distance of 20 SNPs, suggesting the patient was most likely reinfected rather than having a relapse.

Conclusions: To our knowledge, this study is the first to study recurrences in M. ulcerans using NGS, and to identify exogenous reinfection as causing a recurrence of BU. The occurrence of reinfection highlights the contribution of ongoing exposure to M. ulcerans to disease recurrence, and has implications for vaccine development.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Benin / epidemiology
  • Buruli Ulcer / diagnosis*
  • Buruli Ulcer / epidemiology
  • Buruli Ulcer / microbiology
  • Child
  • Female
  • Genome, Bacterial*
  • Genomics / methods*
  • Humans
  • Male
  • Molecular Epidemiology / methods
  • Molecular Typing / methods*
  • Mycobacterium ulcerans / classification*
  • Mycobacterium ulcerans / genetics*
  • Mycobacterium ulcerans / isolation & purification
  • Polymorphism, Single Nucleotide*
  • Recurrence
  • Retrospective Studies

Grants and funding

This work was supported by the UBS Optimus Foundation (Zurich, Switzerland) and the Department of Economy, Science and Innovation of the Flemish Government (Belgium). KV was supported by a VLADOC PhD scholarship of VLIR-UOS (Belgium). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.