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Medicine (Baltimore). 2016 Jul;95(29):e4251. doi: 10.1097/MD.0000000000004251.

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

Author information

1
aBGI-Shenzhen, Shenzhen bDepartment of Vascular and Endocrine Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China cDepartment of Biology, University of Copenhagen, Copenhagen, Denmark dInstitute of Clinical Laboratory Medicine eDepartment of Orthopedic fDepartment of Nephrology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, China.

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 status of this novel mutation in the patient's healthy siblings revealed its de novo origin.

CONCLUSION:

Our study reports the first case of Li-Fraumeni syndrome-like in Chinese patients and demonstrates the important contribution of de novo mutations in this type of rare disease.

PMID:
27442652
PMCID:
PMC5265769
DOI:
10.1097/MD.0000000000004251
[Indexed for MEDLINE]
Free PMC Article

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