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Research Article

Landscape of germline and somatic mitochondrial DNA mutations in pediatric malignancies

Petr Triska, Kristiyana Kaneva, Daria Merkurjev, Noor Sohail, Marni J Falk, Timothy J. Triche, Jaclyn A Biegel and Xiaowu Gai
Petr Triska
Center for Personalized Medicine, Children's Hospital of Los Angeles
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Kristiyana Kaneva
Children's Hospital of Los Angeles
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Daria Merkurjev
Children's Hospital of Los Angeles
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Noor Sohail
Center for Epigenetics, Van Andel Research Institute
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Marni J Falk
Children's Hospital of Philadelphia
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Timothy J. Triche
Bioinformatics, VAN ANDEL RESEARCH INSTITUTE
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Jaclyn A Biegel
Pathology and Laboratory Medicine, Children's Hospital of Los Angeles
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Xiaowu Gai
Pathology and Laboratory Medicine, Children's Hospital of Los Angeles
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  • For correspondence: xgai@chla.usc.edu
DOI: 10.1158/0008-5472.CAN-18-2220
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Abstract

Little is known about the spectrum of mitochondrial DNA (mtDNA) mutations across pediatric malignancies. In this study, we analyzed matched tumor and normal whole genome sequencing data from 616 pediatric patients with hematopoietic malignancies, solid tumors, and brain tumors. We identified 391 mtDNA mutations in 284 tumors including 45 loss-of-function mutations, which clustered at 4 statistically significant hotspots in MT-COX3, MT-ND4, and MT-ND5, and at a mutation hotspot in MT-tRNA-MET. A skewed ratio (4.83) of non-synonymous versus synonymous (dN/dS) mtDNA mutations with high statistical significance was identified based on Monte Carlo simulations in the tumors. By comparison, opposite ratios of 0.44 and 0.93 were observed in 616 matched normal tissues and in 249 blood samples from children without cancer, respectively. mtDNA mutations varied by cancer type and mtDNA haplogroup. Collectively, these results suggest that deleterious mtDNA mutations play a role in the development and progression of pediatric cancers.

  • Received July 18, 2018.
  • Revision received November 15, 2018.
  • Accepted January 22, 2019.
  • Copyright ©2019, American Association for Cancer Research.

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Published OnlineFirst February 1, 2019
doi: 10.1158/0008-5472.CAN-18-2220

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Landscape of germline and somatic mitochondrial DNA mutations in pediatric malignancies
Petr Triska, Kristiyana Kaneva, Daria Merkurjev, Noor Sohail, Marni J Falk, Timothy J. Triche, Jaclyn A Biegel and Xiaowu Gai
Cancer Res February 1 2019 DOI: 10.1158/0008-5472.CAN-18-2220

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Landscape of germline and somatic mitochondrial DNA mutations in pediatric malignancies
Petr Triska, Kristiyana Kaneva, Daria Merkurjev, Noor Sohail, Marni J Falk, Timothy J. Triche, Jaclyn A Biegel and Xiaowu Gai
Cancer Res February 1 2019 DOI: 10.1158/0008-5472.CAN-18-2220
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Cancer Research Online ISSN: 1538-7445
Cancer Research Print ISSN: 0008-5472
Journal of Cancer Research ISSN: 0099-7013
American Journal of Cancer ISSN: 0099-7374

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