Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.

ABSTRACT:

Background

Cases of multiple tumors are rarely reported in China. In our study, a 57-year-old female patient had concurrent squamous cell carcinoma, mucoepidermoid carcinoma, brain cancer, bone cancer, and thyroid cancer, which has rarely been reported to date.

Methods

To determine the relationship among these multiple cancers, available DNA samples from the thyroid, lung, and skin tumors and from normal thyroid tissue were sequenced using whole exome sequencing.

Results

The notable discrepancies of somatic mutations among the 3 tumor tissues indicated that they arose independently, rather than metastasizing from 1 tumor. A novel deleterious germline mutation (chr22:29091846, G->A, p.H371Y) was identified in CHEK2, a Li-Fraumeni syndrome causal gene. Examining the sta

SUBMITTER: Zhuang X 

PROVIDER: S-EPMC5265769 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature