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Neuroblastoma with ...
Neuroblastoma with flat genomic profile : A question of representativity?
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- Valind, Anders (författare)
- Lund University,Lunds universitet,Cancercellers evolution,Forskargrupper vid Lunds universitet,Pathways of cancer cell evolution,Lund University Research Groups
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- Öra, Ingrid (författare)
- Lund University,Lunds universitet,Cancercellers evolution,Forskargrupper vid Lunds universitet,Pathways of cancer cell evolution,Lund University Research Groups
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- Mertens, Fredrik (författare)
- Lund University,Lunds universitet,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,The genetics of soft tissue tumors,Lund University Research Groups
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- Gisselsson, David (författare)
- Lund University,Lunds universitet,Cancercellers evolution,Forskargrupper vid Lunds universitet,Pathways of cancer cell evolution,Lund University Research Groups
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(creator_code:org_t)
- 2018-09-08
- 2018
- Engelska.
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Ingår i: BMJ Case Reports. - : BMJ. - 1757-790X. ; 2018
- Relaterad länk:
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http://dx.doi.org/10...
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visa fler...
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https://www.ncbi.nlm...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- congenital disorders
- paediatric oncology
- pathology
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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