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Neuroblastoma with flat genomic profile : A question of representativity?

Valind, Anders LU ; Öra, Ingrid LU ; Mertens, Fredrik LU and Gisselsson, David LU (2018) In BMJ Case Reports 2018.
Abstract

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... (More)

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.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
congenital disorders, paediatric oncology, pathology
in
BMJ Case Reports
volume
2018
publisher
BMJ Publishing Group
external identifiers
  • scopus:85053178330
ISSN
1757-790X
DOI
10.1136/bcr-2018-225568
language
English
LU publication?
yes
id
673f9196-6813-4841-80f1-eae1990e59d3
date added to LUP
2018-10-19 14:33:44
date last changed
2019-01-06 14:10:59
@article{673f9196-6813-4841-80f1-eae1990e59d3,
  abstract     = {<p>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 &gt;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.</p>},
  articleno    = {bcr-2018-225568},
  author       = {Valind, Anders and Öra, Ingrid and Mertens, Fredrik and Gisselsson, David},
  issn         = {1757-790X},
  keyword      = {congenital disorders,paediatric oncology,pathology},
  language     = {eng},
  publisher    = {BMJ Publishing Group},
  series       = {BMJ Case Reports},
  title        = {Neuroblastoma with flat genomic profile : A question of representativity?},
  url          = {http://dx.doi.org/10.1136/bcr-2018-225568},
  volume       = {2018},
  year         = {2018},
}