The mitochondrial genetic landscape in neuroblastoma from tumor initiation to relapse
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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
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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