TY - JOUR
T1 - Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion
T2 - A case report
AU - Watanabe, Jiro
AU - Kai, Keita
AU - Tanikawa, Ken
AU - Hiraki, Mamoru
AU - Mizukami, Naohisa
AU - Aishima, Shinichi
AU - Nakano, Takafumi
AU - Yamamoto, Hidetaka
N1 - Funding Information:
This work was partly supported by the Japan Society for the Promotion of Science (JSPS) KAKENHI (Grants-in-Aid for Scientific Research C), grant no. JP16K08650.
Publisher Copyright:
© 2019 The Author(s).
PY - 2019/7/27
Y1 - 2019/7/27
N2 - 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.
AB - 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.
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U2 - 10.1186/s13000-019-0863-8
DO - 10.1186/s13000-019-0863-8
M3 - Article
C2 - 31351495
AN - SCOPUS:85069926304
VL - 14
JO - Diagnostic Pathology
JF - Diagnostic Pathology
SN - 1746-1596
IS - 1
M1 - 84
ER -