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The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese.
- Source :
-
Cancer Investigation . 2018, Vol. 36 Issue 2, p141-151. 11p. - Publication Year :
- 2018
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 07357907
- Volume :
- 36
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Cancer Investigation
- Publication Type :
- Academic Journal
- Accession number :
- 128573877
- Full Text :
- https://doi.org/10.1080/07357907.2018.1430813