The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese

ABSTRACT

This study systematically reviewed previous literatures and analyzed the genotype–phenotype relationship between the multiple endocrine neoplasia type 2A (MEN 2A)-cutaneous lichen amyloidosis (CLA) and RET/OSMR/IL31RA mutations. RET/OSMR/IL31RA screening was performed on 8 RET-carriers from 3 independent Chinese MEN 2A families. Besides, 51 MEN 2A-CLA patients in 116 RET carriers from literatures were clustered and analyzed. Our results indicated that almost all MEN 2A-CLA patients exhibited CLA which was located in the scapular region and carried RET mutation at codon 634. Meanwhile, we firstly described MEN 2A-CLA here in Chinese Han patient with RET p.C634F mutation.

KEYWORDS:

• Multiple endocrine neoplasia type 2A
• Cutaneous lichen amyloidosis
• RET proto-oncogene
• OSMR/IL31RA gene

Declaration of interest

The authors report no declarations of interest.

Acknowledgments

The authors thank all the patients and their families who agreed to participate in this study. This work was supported by the National Natural Science Foundation of China (81472861), the Key Project of Zhejiang Province Science and Technology Plan, China (2014C03048-1), the Key Scientific Research Project of Nanjing Military Command, China (09Z038, 10Z036), and the Medical Science and Technology Project of Zhejiang Province, China (2014KYB219).

Additional information

Funding

The National Natural Science Foundation of China (81472861); The Key Project of Zhejiang Province Science and Technology Plan, China (2014C03048-1); The Key Scientific Research Project of Nanjing Military Command, China (09Z038, 10Z036); The Medical Science and Technology Project of Zhejiang Province, China (2014KYB219).