Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion: A case report

Jiro Watanabe, Keita Kai, Ken Tanikawa, Mamoru Hiraki, Naohisa Mizukami, Shinichi Aishima, Takafumi Nakano, Hidetaka Yamamoto

研究成果: ジャーナルへの寄稿学術誌査読

7 被引用数 (Scopus)


Background: CRTC1-MAML2 fusion is often detected in low- or intermediate-grade salivary mucoepidermoid carcinoma (MEC), and it is associated with a favorable clinical course. Primary MEC of the liver is an extremely rare, aggressive tumor, and no study has investigated CRTC1-MAML2 fusion. Case presentation: A 79-year-old Japanese female presented with an approx. 5-cm hepatic mass lesion. We surgically resected the lesion under the clinical diagnosis of intrahepatic cholangiocarcinoma. The histological and immunohistochemical findings were consistent with high-grade MEC, consisting of squamoid, mucin-producing, and intermediate tumor cells. Our RT-PCR analysis revealed the presence of CRTC1-MAML2 fusion. This fusion gene was further confirmed by direct sequencing. The patient is still alive almost 10 years after the surgery. Conclusion: This is the first case report of primary MEC of the liver with CRTC1-MAML2 fusion, with long survival. The present case has significant implications for the entity of primary MEC of the liver which should be distinguished from adenosquamous carcinoma.

ジャーナルDiagnostic Pathology
出版ステータス出版済み - 7月 27 2019

!!!All Science Journal Classification (ASJC) codes

  • 病理学および法医学
  • 組織学


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