The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese
| Autor: | Feng Li, Xiao-Ping Qi, Peng-Fei Li, Guang-Ping Wang, Wo-Long Ma, Hong Jia, Er Fu, Zhi-Lie Cao, Jian Guo, Jian-Qiang Zhao, Yi-Hua Zhao |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Genetic Markers Male Oncology endocrine system Cancer Research medicine.medical_specialty Han chinese endocrine system diseases Ethnic group Multiple Endocrine Neoplasia Type 2a 030209 endocrinology & metabolism RET proto-oncogene Proto-Oncogene Mas Skin Diseases Metabolic 03 medical and health sciences 0302 clinical medicine Asian People Internal medicine medicine Humans Child Cutaneous nodular amyloidosis Oncostatin M Receptor beta Subunit integumentary system business.industry Amyloidosis Proto-Oncogene Proteins c-ret food and beverages Receptors Interleukin General Medicine Lichen amyloidosis Middle Aged medicine.disease Pedigree Phenotype 030220 oncology & carcinogenesis Mutation Female lipids (amino acids peptides and proteins) business |
| Zdroj: | Cancer Investigation. 36:141-151 |
| ISSN: | 1532-4192 0735-7907 |
| DOI: | 10.1080/07357907.2018.1430813 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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