Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma

Abstract Background Primary hepatic mucoepidermoid carcinoma (HMEC) is extremely rare and the molecular etiology still unknown. The CRTC1-MAML2 fusion gene was previously detected in a primary HMEC, which often associated with MEC of salivary gland literature. Methods A 64-year-old male diagnosed HMEC based on malignant squamous cells mucus-secreting immunohistochemical examination. Fluorescence situ hybridization (FISH) used to detect HMEC. Whole-exome sequencing Sanger were reveal characteristics analysis performed public data. Pedigree investigation identify susceptibility genes. Results Hematoxylin–eosin staining immunohistochemistry revealed that tumor composed epidermoid mucous cells, indicating diagnosis not somatic mutations GNAS , KMT2C ELF3 genes identified by sequencing. Analyses data alterations 2.1% hepatobiliary tumors relation parasite infection. Heterozygous germline FANCA FANCI FANCJ/BRIP1 FAN1 also identified. verified mutation Fanconi’s anemia present pedigree. Conclusions Here we provide first evidence R201H mutation.