Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion: a case report
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CASE REPORT
Open Access
Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion: a case report Jiro Watanabe1, Keita Kai2* , Ken Tanikawa3, Mamoru Hiraki3, Naohisa Mizukami4, Shinichi Aishima2,5, Takafumi Nakano6 and Hidetaka Yamamoto6
Abstract 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 RTPCR 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. Keywords: Mucoepidermoid carcinoma, Liver, MAML2 fusion, Cholangiocellular carcinoma, Adenosquamous carcinoma
Background Mucoepidermoid carcinoma (MEC) is a common malignant neoplasm of the salivary glands but rarely arises in other organs, including the esophagus, pancreas, lung, breast, thymus, anal canal, lacrimal gland, thyroid gland, uterine cervix, and liver [1]. Primary MEC of the liver is extremely rare. Only 17 cases have been reported in the English literature [1]. Salivary MEC is often associated with chromosomal translocation, t (11;19)(q21;p13) [2], and this translocation generates a fusion gene comprised of the cAMP-regulated transcriptional co-activator 1 (CRTC1) at 19q21 and the mastermind-like gene 2 (MAML2) at 11q21 [3]. A fusion of CRTC3 at 15q26 and MAML2 is also reported as a specific fusion gene of salivary MEC [4].
* Correspondence: [email protected] 2 Department of Pathology, Saga University Hospital, Nabeshima 5-1-1, Saga City, Saga 849-8501, Japan Full list of author information is available at the end of the article
As primary MEC of the liver is extremely rare, its clinicopathological features have been unclear. To the best of our knowledge, CRTC1/3-MAML2 fusion has not been investigated. We herein report the first case of primary MEC of the liver with CRTC1-MAML2 fusion.
Case presentation Clinical summary
A 79-year-old Japanese female visited our hospital in complaining of right hypochondrium pain. She had no remarkable medical or family history. Laboratory tests on admission showed no abnormality except for elevated serum carcinoembryonic antigen (CEA) at 146 ng/mL (normal value, < 5.0) and carbohydrate antigen 19–9 (CA19–9) at 415 U/mL (no
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