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Cerebellopontine angle SHH-activated embryonal tumor without interaction from the cerebellum in Cowden syndrome: A case report
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  • Takahiro Ishikawa,
  • Kohei Fukuoka,
  • Daiju Oba,
  • Kayoko Ichimura,
  • Yonehiro Kanemura,
  • Yutaka Tanami,
  • Hirofumi Ohashi,
  • Atsuko Nakazawa,
  • Jun Kurihara,
  • Katsuyoshi Koh
Takahiro Ishikawa
Saitama Kenritsu Shoni Iryo Center
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Kohei Fukuoka
Saitama Kenritsu Shoni Iryo Center

Corresponding Author:kohfukuoka@gmail.com

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Daiju Oba
Saitama Kenritsu Shoni Iryo Center
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Kayoko Ichimura
Saitama Kenritsu Shoni Iryo Center
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Yonehiro Kanemura
Kokuritsu Byoin Kiko Osaka Iryo Center
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Yutaka Tanami
Saitama Kenritsu Shoni Iryo Center
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Hirofumi Ohashi
Saitama Kenritsu Shoni Iryo Center
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Atsuko Nakazawa
Saitama Kenritsu Shoni Iryo Center
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Jun Kurihara
Saitama Kenritsu Shoni Iryo Center
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Katsuyoshi Koh
Saitama Kenritsu Shoni Iryo Center
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Abstract

Among intracranial embryonal tumors, genetic/epigenetic analysis can help unveil the molecular background. Herein, we report a case of a cerebellar pontine angular embryonic tumor complicated by Cowden syndrome in an infant. The tumor radiologically lacked evidence of interaction with the cerebellum and appeared to show continuity with the pons. Pathological appearance was similar to that of a medulloblastoma with extensive nodularity. DNA methylation analysis indicated that the tumor was a “medulloblastoma, sonic hedgehog-activated” with a substantial confidence. Although the diagnosis deviated from the definition of medulloblastoma, clinical, pathological and molecular data suggested that it was an “ectopic” medulloblastoma.