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<p>A teratoma with somatic-type malignancy is a rare subtype of germ cell tumor (GCT) characterized by the presence of a histologically distinct component resembling a somatic cancer within a teratoma feature. To date, only 14 cases have been reported in the central nervous system (CNS), and its diagnosis remains challenging due to the limited availability of pathological findings. A case of a pineal GCT that recurred as an adenocarcinoma 25&#xa0;years after the initial chemoradiotherapy is reported. Although the histological features of teratoma were not observed, transformation into a teratoma with somatic-type malignancy was suspected. DNA methylation analysis classified the tumor within the CNS GCT cluster, specifically aligning with teratomas. Furthermore, whole-exome sequencing demonstrated multiple somatic mutations including two MAPK pathway gene alterations. These findings support the hypothesis that a GCT can evolve into a somatic cancerous phenotype over time, providing deep biological insights into the carcinogenesis of teratomas.</p>

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Late-onset intracranial adenocarcinoma arising from a germ cell tumor 25 years after initial diagnosis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月25日

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  • Yuri Yamagiwa,
  • Masashi Nomura,
  • Hirokazu Takami,
  • Atsushi Kondo,
  • Yosuke Kitagawa,
  • Aya Shinozaki-Ushiku,
  • Shunsaku Takayanagi,
  • Nobuhito Saito

摘要

A teratoma with somatic-type malignancy is a rare subtype of germ cell tumor (GCT) characterized by the presence of a histologically distinct component resembling a somatic cancer within a teratoma feature. To date, only 14 cases have been reported in the central nervous system (CNS), and its diagnosis remains challenging due to the limited availability of pathological findings. A case of a pineal GCT that recurred as an adenocarcinoma 25 years after the initial chemoradiotherapy is reported. Although the histological features of teratoma were not observed, transformation into a teratoma with somatic-type malignancy was suspected. DNA methylation analysis classified the tumor within the CNS GCT cluster, specifically aligning with teratomas. Furthermore, whole-exome sequencing demonstrated multiple somatic mutations including two MAPK pathway gene alterations. These findings support the hypothesis that a GCT can evolve into a somatic cancerous phenotype over time, providing deep biological insights into the carcinogenesis of teratomas.