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The mitochondrial genetic landscape in neuroblastoma from tumor initiation to relapse.


ABSTRACT: Little is known about changes within the mitochondrial (mt) genome during tumor progression in general and during initiation and progression of neuroblastoma (NB) in particular. Whole exome sequencing of corresponding healthy tissue, primary tumor and relapsed tumor from 16 patients with NB revealed that most NB harbor tumor-specific mitochondrial variants. In relapsed tumors, the status of mt variants changed in parallel to the status of nuclear variants, as shown by increased number and spatio-temporal differences of tumor-specific variants, and by a concomitant decrease of germline variants. As mt variants are present in most NB patients, change during relapse and have a higher copy number compared to nuclear variants, they represent a promising new source of biomarkers for monitoring and phylogenetic analysis of NB.

SUBMITTER: Riehl LM 

PROVIDER: S-EPMC4872737 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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The mitochondrial genetic landscape in neuroblastoma from tumor initiation to relapse.

Riehl Lara M LM   Schulte Johannes H JH   Mulaw Medhanie A MA   Dahlhaus Meike M   Fischer Matthias M   Schramm Alexander A   Eggert Angelika A   Debatin Klaus-Michael KM   Beltinger Christian C  

Oncotarget 20160201 6


Little is known about changes within the mitochondrial (mt) genome during tumor progression in general and during initiation and progression of neuroblastoma (NB) in particular. Whole exome sequencing of corresponding healthy tissue, primary tumor and relapsed tumor from 16 patients with NB revealed that most NB harbor tumor-specific mitochondrial variants. In relapsed tumors, the status of mt variants changed in parallel to the status of nuclear variants, as shown by increased number and spatio  ...[more]

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