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Neuroblastoma with flat genomic profile: a question of representativity?
  1. Anders Valind,
  2. Ingrid Öra,
  3. Fredrik Mertens,
  4. David Gisselsson
  1. Division of Clinical Genetics, Lunds Universitet, Lund, Sweden
  1. Correspondence to Professor David Gisselsson, david.gisselsson_nord{at}


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.

  • paediatric oncology
  • congenital disorders
  • pathology
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  • 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.

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