Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background

Genome Res. 2015 Nov;25(11):1634-45. doi: 10.1101/gr.194449.115. Epub 2015 Sep 16.

Abstract

Lymphoma is the most common hematological malignancy in developed countries. Outcome is strongly determined by molecular subtype, reflecting a need for new and improved treatment options. Dogs spontaneously develop lymphoma, and the predisposition of certain breeds indicates genetic risk factors. Using the dog breed structure, we selected three lymphoma predisposed breeds developing primarily T-cell (boxer), primarily B-cell (cocker spaniel), and with equal distribution of B- and T-cell lymphoma (golden retriever), respectively. We investigated the somatic mutations in B- and T-cell lymphomas from these breeds by exome sequencing of tumor and normal pairs. Strong similarities were evident between B-cell lymphomas from golden retrievers and cocker spaniels, with recurrent mutations in TRAF3-MAP3K14 (28% of all cases), FBXW7 (25%), and POT1 (17%). The FBXW7 mutations recurrently occur in a specific codon; the corresponding codon is recurrently mutated in human cancer. In contrast, T-cell lymphomas from the predisposed breeds, boxers and golden retrievers, show little overlap in their mutation pattern, sharing only one of their 15 most recurrently mutated genes. Boxers, which develop aggressive T-cell lymphomas, are typically mutated in the PTEN-mTOR pathway. T-cell lymphomas in golden retrievers are often less aggressive, and their tumors typically showed mutations in genes involved in cellular metabolism. We identify genes with known involvement in human lymphoma and leukemia, genes implicated in other human cancers, as well as novel genes that could allow new therapeutic options.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • B-Lymphocytes / metabolism
  • Cell Cycle Proteins / genetics
  • DNA Copy Number Variations
  • Disease Models, Animal
  • Dogs / genetics*
  • Exome*
  • F-Box Proteins / genetics
  • F-Box-WD Repeat-Containing Protein 7
  • Genetic Background*
  • Humans
  • Lymphoma, B-Cell / diagnosis
  • Lymphoma, B-Cell / genetics*
  • Mutation
  • NF-kappaB-Inducing Kinase
  • Protein Serine-Threonine Kinases / genetics
  • Sequence Alignment
  • Shelterin Complex
  • T-Lymphocytes / metabolism
  • TNF Receptor-Associated Factor 3 / genetics
  • Telomere-Binding Proteins / genetics
  • Ubiquitin-Protein Ligases / genetics

Substances

  • Cell Cycle Proteins
  • F-Box Proteins
  • F-Box-WD Repeat-Containing Protein 7
  • FBXW7 protein, human
  • POT1 protein, human
  • Shelterin Complex
  • TNF Receptor-Associated Factor 3
  • Telomere-Binding Proteins
  • Ubiquitin-Protein Ligases
  • Protein Serine-Threonine Kinases