Mutations predisposing to melanoma: Implications for tumor behavior

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  • Maesawa Chihaya
    Department of Tumor Biology, Institute of Biomedical Science, School of Medicine, Iwate Medical University, Yahaba, Japan
  • Yasuhira Shinji
    Department of Tumor Biology, Institute of Biomedical Science, School of Medicine, Iwate Medical University, Yahaba, Japan
  • Shibazaki Masahiko
    Department of Tumor Biology, Institute of Biomedical Science, School of Medicine, Iwate Medical University, Yahaba, Japan
  • Watanabe Ayano
    Department of Dermatology, School of Medicine, Iwate Medical University, Yahaba, Japan
  • Tsunoda Kanako
    Department of Dermatology, School of Medicine, Iwate Medical University, Yahaba, Japan
  • Miura Shinpei
    Department of Dermatology, School of Medicine, Iwate Medical University, Yahaba, Japan
  • Amano Hiroo
    Department of Dermatology, School of Medicine, Iwate Medical University, Yahaba, Japan
  • Nishiya Masao
    Department of Molecular Diagnostic Pathology, School of Medicine, wate Medical University, Yahaba, Japan

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  • 悪性黒色腫の生物学的特性の原因となる遺伝子変異

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Abstract

Advances in genetic research and the development of new modalities, such as tyrosine kinase inhibitors and immune checkpoint inhibitors, have led to a paradigm shift in the management of patients with cutaneous melanoma. Melanoma has one of the highest mutation rates among malignancies, and both available therapies are affected by this. Four subtypes of melanoma genotypes were classified based on significantly mutated genes, and BRAF mutations were the most prevalent drivers in Western countries, whereas the proportion was distinct in Japan. Mutation profiles are strongly associated with tumor behaviors, such as proliferation, metastasis, and drug sensitivity. This review aims to help readers better understand the relationship between mutations and tumor biology in cutaneous melanomas. Moreover, it discusses the significance of genetic research in the clinical management of patients with cutaneous melanoma.

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