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 is still unknown. The CRTC1-MAML2 fusion gene was previously detected in a primary HMEC, which is often associated with MEC of salivary gland in the literature.

Methods

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 CRTC1-MAML2 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.

Results

Hematoxylin-eosin staining and immunohist

SUBMITTER: Hou P 

PROVIDER: S-EPMC8034126 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature