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The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese.
Qi, Xiao-Ping; Zhao, Jian-Qiang; Cao, Zhi-Lie; Fu, Er; Li, Feng; Zhao, Yi-Hua; Wang, Guang-Ping; Li, Peng-Fei; Ma, Wo-Long; Guo, Jian; Jia, Hong.
Afiliação
  • Qi XP; a Department of Oncologic and Urologic Surgery, Nanjing Military Command Hospital Center for Endocrine & Metabolic Diseases , the 117th PLA Hospital, Wenzhou Medical University , Hangzhou , Zhejiang , China.
  • Zhao JQ; b Department of Head and Neck Surgery , Zhejiang Cancer Hospital , Hangzhou , Zhejiang , China.
  • Cao ZL; a Department of Oncologic and Urologic Surgery, Nanjing Military Command Hospital Center for Endocrine & Metabolic Diseases , the 117th PLA Hospital, Wenzhou Medical University , Hangzhou , Zhejiang , China.
  • Fu E; a Department of Oncologic and Urologic Surgery, Nanjing Military Command Hospital Center for Endocrine & Metabolic Diseases , the 117th PLA Hospital, Wenzhou Medical University , Hangzhou , Zhejiang , China.
  • Li F; a Department of Oncologic and Urologic Surgery, Nanjing Military Command Hospital Center for Endocrine & Metabolic Diseases , the 117th PLA Hospital, Wenzhou Medical University , Hangzhou , Zhejiang , China.
  • Zhao YH; c Department of Urologic Surgery , Yueqing People's Hospital, Wenzhou Medical University , Yueqing , Zhejiang , China.
  • Wang GP; d Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College , Nanjing , Jiangsu , China.
  • Li PF; e XY Biotechnology Co. Ltd. , Hangzhou , Zhejiang , China.
  • Ma WL; e XY Biotechnology Co. Ltd. , Hangzhou , Zhejiang , China.
  • Guo J; a Department of Oncologic and Urologic Surgery, Nanjing Military Command Hospital Center for Endocrine & Metabolic Diseases , the 117th PLA Hospital, Wenzhou Medical University , Hangzhou , Zhejiang , China.
  • Jia H; d Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College , Nanjing , Jiangsu , China.
Cancer Invest ; 36(2): 141-151, 2018 Feb 07.
Article em En | MEDLINE | ID: mdl-29420094
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dermatopatias Metabólicas / Marcadores Genéticos / Neoplasia Endócrina Múltipla Tipo 2a / Povo Asiático / Proteínas Proto-Oncogênicas c-ret / Amiloidose / Mutação Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Cancer Invest Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dermatopatias Metabólicas / Marcadores Genéticos / Neoplasia Endócrina Múltipla Tipo 2a / Povo Asiático / Proteínas Proto-Oncogênicas c-ret / Amiloidose / Mutação Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Cancer Invest Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China