Whole exome sequencing identifies a recurrent RQCD1 P131L mutation in cutaneous melanoma

Oncotarget. 2015 Jan 20;6(2):1115-27. doi: 10.18632/oncotarget.2747.

Abstract

Melanoma is often caused by mutations due to exposure to ultraviolet radiation. This study reports a recurrent somatic C > T change causing a P131L mutation in the RQCD1 (Required for Cell Differentiation1 Homolog) gene identified through whole exome sequencing of 20 metastatic melanomas. Screening in 715 additional primary melanomas revealed a prevalence of ~4%. This represents the first reported recurrent mutation in a member of the CCR4-NOT complex in cancer. Compared to tumors without the mutation, the P131L mutant positive tumors were associated with increased thickness (p = 0.02), head and neck (p = 0.009) and upper limb (p = 0.03) location, lentigo maligna melanoma subtype (p = 0.02) and BRAF V600K (p = 0.04) but not V600E or NRAS codon 61 mutations. There was no association with nodal disease (p = 0.3). Mutually exclusive mutations of other members of the CCR4-NOT complex were found in ~20% of the TCGA melanoma dataset suggesting the complex may play an important role in melanoma biology. Mutant RQCD1 was predicted to bind strongly to HLA-A0201 and HLA-Cw3 MHC1 complexes. From thirteen patients with mutant RQCD1, an anti-tumor CD8⁺ T cell response was observed from a single patient's peripheral blood mononuclear cell population stimulated with mutated peptide compared to wildtype indicating a neoantigen may be formed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cell Line, Tumor
  • Exome / genetics*
  • Female
  • GTP Phosphohydrolases / genetics
  • HLA Antigens / metabolism
  • Humans
  • Logistic Models
  • Male
  • Melanoma / genetics*
  • Melanoma / pathology
  • Melanoma, Cutaneous Malignant
  • Membrane Proteins / genetics
  • Middle Aged
  • Models, Molecular
  • Molecular Sequence Data
  • Multivariate Analysis
  • Mutation, Missense*
  • Neoplasm Metastasis
  • Protein Binding
  • Protein Structure, Tertiary
  • Proto-Oncogene Proteins B-raf / genetics
  • Sequence Analysis, DNA / methods*
  • Sequence Homology, Amino Acid
  • Skin Neoplasms
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*

Substances

  • CNOT9 protein, human
  • HLA Antigens
  • Membrane Proteins
  • Transcription Factors
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • GTP Phosphohydrolases
  • NRAS protein, human