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The\n                      <jats:italic>CRTC1-MAML2<\/jats:italic>\n                      fusion gene was previously detected in a primary HMEC, which is often associated with MEC of salivary gland in the literature.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A 64-year-old male was diagnosed with HMEC based on malignant squamous cells and mucus-secreting cells in immunohistochemical examination. Fluorescence in situ hybridization (FISH) was used to detect the\n                      <jats:italic>CRTC1-MAML2<\/jats:italic>\n                      fusion gene in HMEC. Whole-exome sequencing and Sanger sequencing were used to reveal the molecular characteristics of HMEC and analysis was performed with public data. Pedigree investigation was performed to identify susceptibility genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Hematoxylin\u2013eosin staining and immunohistochemistry revealed that the tumor cells were composed of malignant epidermoid malignant cells and mucous cells, indicating a diagnosis of HMEC. The\n                      <jats:italic>CRTC1-MAML2<\/jats:italic>\n                      fusion gene was not detected in the primary HMEC, and somatic mutations in\n                      <jats:italic>GNAS<\/jats:italic>\n                      ,\n                      <jats:italic>KMT2C<\/jats:italic>\n                      and\n                      <jats:italic>ELF3<\/jats:italic>\n                      genes were identified by sequencing. Analyses of public data revealed somatic\n                      <jats:italic>GNAS<\/jats:italic>\n                      alterations in 2.1% hepatobiliary tumors and relation with parasite infection. Heterozygous germline mutations of\n                      <jats:italic>FANCA<\/jats:italic>\n                      ,\n                      <jats:italic>FANCI<\/jats:italic>\n                      ,\n                      <jats:italic>FANCJ\/BRIP1<\/jats:italic>\n                      and\n                      <jats:italic>FAN1<\/jats:italic>\n                      genes were also identified. Pedigree investigation verified that mutation of Fanconi\u2019s anemia susceptibility genes were present in the pedigree.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Here we provide the first evidence of the molecular etiology of a rare HMEC associated with germline Fanconi\u2019s anemia gene mutations and somatic GNAS R201H mutation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13000-021-01086-3","type":"journal-article","created":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T12:14:59Z","timestamp":1617884099000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma"],"prefix":"10.1186","volume":"16","author":[{"given":"Ping","family":"Hou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongguiyi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihao","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiakun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixiang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linquan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjun","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,8]]},"reference":[{"issue":"4","key":"1086_CR1","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1177\/1066896918821436","volume":"27","author":"Y Nallacheruvu","year":"2019","unstructured":"Nallacheruvu Y, Gaur K, Sakhuja P, Agarwal AK, Srivastava S. 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