BMJ Case Reports 2018; doi:10.1136/bcr-2018-225568
  • Findings that shed new light on the possible pathogenesis of a disease or an adverse effect

Neuroblastoma with flat genomic profile: a question of representativity?

  1. David Gisselsson
  1. Division of Clinical Genetics, Lunds Universitet, Lund, Sweden
  1. Correspondence to Professor David Gisselsson, david.gisselsson_nord{at}
  • Accepted 22 August 2018
  • Published 8 September 2018


Neuroblastoma is one of the most common paediatric malignancies. Detection of somatic genetic alterations in this tumour is instrumental for its risk stratification and treatment. On the other hand, an absence of detected chromosomal imbalances in neuroblastoma biopsies is difficult to interpret because it is unclear whether this situation truly reflects the tumour genome or if it is due to suboptimal sampling. We here present a neuroblastoma in the left adrenal of a newborn. The tumour was subjected to single-nucleotide polymorphism array analysis of five tumour regions with >80% tumour cells in histological mirror sections. This revealed no aberrations compared with a normal reference sample from the patient. Whole exome sequencing identified two single-nucleotide variants present in most tumour regions, corroborating that the tumour resulted from monoclonal expansion. Our data provide proof-of-principle that rare cases of neuroblastoma can have a normal whole genome copy number and allelic profile.


  • Contributors AV: performed whole exome sequencing analysis. IÖ: provided clinical data. FM: advised genetic analyses. DG: contributed pathology, array data and corresponded with the patient’s family.

  • Funding This study is funded by Vetenskapsrådet (grant number: 2016-01022), Gunnar Nilssons Cancerstiftelse, Cancerfonden (grant number: CAN2015/284), Barncancerfonden (grant number: NCP2015-0035), Crafoordska Stiftelsen.

  • Competing interests None declared.

  • Patient consent Next of kin consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article