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

Research output: Contribution to journalArticle

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 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.

Original languageEnglish
Article number84
JournalDiagnostic Pathology
Volume14
Issue number1
DOIs
Publication statusPublished - Jul 27 2019

Fingerprint

Mucoepidermoid Carcinoma
Liver
Adenosquamous Carcinoma
Cholangiocarcinoma
Gene Fusion
Mucins
Neoplasms
Polymerase Chain Reaction
Survival

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Histology

Cite this

Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion : A case report. / Watanabe, Jiro; Kai, Keita; Tanikawa, Ken; Hiraki, Mamoru; Mizukami, Naohisa; Aishima, Shinichi; Nakano, Takafumi; Yamamoto, Hidetaka.

In: Diagnostic Pathology, Vol. 14, No. 1, 84, 27.07.2019.

Research output: Contribution to journalArticle

Watanabe, J, Kai, K, Tanikawa, K, Hiraki, M, Mizukami, N, Aishima, S, Nakano, T & Yamamoto, H 2019, 'Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion: A case report', Diagnostic Pathology, vol. 14, no. 1, 84. https://doi.org/10.1186/s13000-019-0863-8
Watanabe J, Kai K, Tanikawa K, Hiraki M, Mizukami N, Aishima S et al. Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion: A case report. Diagnostic Pathology. 2019 Jul 27;14(1). 84. https://doi.org/10.1186/s13000-019-0863-8
Watanabe, Jiro ; Kai, Keita ; Tanikawa, Ken ; Hiraki, Mamoru ; Mizukami, Naohisa ; Aishima, Shinichi ; Nakano, Takafumi ; Yamamoto, Hidetaka. / Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion : A case report. In: Diagnostic Pathology. 2019 ; Vol. 14, No. 1.
@article{27797f26ffb1445f804ef480a1275200,
title = "Primary mucoepidermoid carcinoma of the liver with CRTC1-MAML2 fusion: A case report",
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 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.",
author = "Jiro Watanabe and Keita Kai and Ken Tanikawa and Mamoru Hiraki and Naohisa Mizukami and Shinichi Aishima and Takafumi Nakano and Hidetaka Yamamoto",
year = "2019",
month = "7",
day = "27",
doi = "10.1186/s13000-019-0863-8",
language = "English",
volume = "14",
journal = "Diagnostic Pathology",
issn = "1746-1596",
publisher = "BioMed Central",
number = "1",

}

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

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.

UR - http://www.scopus.com/inward/record.url?scp=85069926304&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85069926304&partnerID=8YFLogxK

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 -