Research Papers:

The mitochondrial genetic landscape in neuroblastoma from tumor initiation to relapse

Lara M. Riehl, Johannes H. Schulte, Medhanie A. Mulaw, Meike Dahlhaus, Matthias Fischer, Alexander Schramm, Angelika Eggert, Klaus-Michael Debatin and Christian Beltinger _

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Oncotarget. 2016; 7:6620-6625. https://doi.org/10.18632/oncotarget.6776

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Lara M. Riehl1, Johannes H. Schulte2,3, Medhanie A. Mulaw4,5, Meike Dahlhaus1, Matthias Fischer6,7, Alexander Schramm8, Angelika Eggert2, Klaus-Michael Debatin1, Christian Beltinger1

1Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany

2Pediatric Oncology and Hematology, Charité University Medicine, Berlin, Germany

3German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany

4Institute for Experimental Cancer Research, University Medical Center Ulm, Ulm, Germany

5Core Facility Genomics, Faculty of Medicine, Ulm University, Ulm, Germany

6Department of Pediatric Oncology and Hematology, University Children’s Hospital Cologne, Medical Faculty, University of Cologne, Cologne, Germany

7Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany

8Department of Pediatric Oncology and Hematology, University Children’s Hospital Essen, Essen, Germany

Correspondence to:

Christian Beltinger, e-mail: [email protected]

Keywords: mitochondrial variants, neuroblastoma, tumor progression, next generation sequencing, phylogenetic analysis

Received: September 01, 2015     Accepted: November 25, 2015     Published: December 28, 2015


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.

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