{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:13Z","timestamp":1784556973208,"version":"3.55.0"},"reference-count":80,"publisher":"Bioscientifica","issue":"9","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,9]]},"abstract":"\n Background<\/jats:title>\n \n Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline\n RET<\/jats:italic>\n mutations C634F\/G\/R\/W\/Y or V804M, as a characteristic of the clinical manifestation in \u2018MEN 2A with CLA\u2019, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.\n <\/jats:p>\n <\/jats:sec>\n \n Patient Findings<\/jats:title>\n \n This study reports a large south-eastern Chinese pedigree with 17 individuals carrying the MEN 2A-harboring germline C611Y (c.1832G>A)\n RET<\/jats:italic>\n mutation by Sanger sequencing. One individual presented MEN 2A-related clinical features, including typical CLA in the interscapular region; another individual exhibited neurological pruritus and scratching in the upper back but lacked CLA skin lesions. Both subjects presented with CLA or pruritic symptoms several years before the onset of medullary thyroid carcinoma (MTC) and\/or pheochromocytoma. The remaining 15\n RET<\/jats:italic>\n mutation carriers did not exhibit CLA; of these, one presented with MTC and pheochromocytoma, nine with MTC only, two with elevated serum calcitonin and three younger subjects with normal serum calcitonin levels. This family\u2019s clinical data revealed a later diagnosis of MTC (mean age, 45.9 (range: 23\u201373) years), a lower penetrance of pheochromocytoma (2\/17, 11.8%) and CLA (1\/17, 5.9%). However, no hyperparathyroidism and Hirschsprung disease were reported in this family.\n <\/jats:p>\n <\/jats:sec>\n \n Summary and Conclusions<\/jats:title>\n \n This is the first description of a family with MEN 2A-related CLA due to a germline\n RET<\/jats:italic>\n C611Y mutation, which might exhibit a novel and diversified genotype\u2013phenotype spectrum in MEN 2A.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/ec-18-0220","type":"journal-article","created":{"date-parts":[[2018,7,26]],"date-time":"2018-07-26T13:06:05Z","timestamp":1532610365000},"page":"998-1005","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":15,"title":["The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis"],"prefix":"10.1530","volume":"7","author":[{"given":"Xiao-Ping","family":"Qi","sequence":"first","affiliation":[{"name":"1Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Zhong","family":"Peng","sequence":"additional","affiliation":[{"name":"2Department of Dermatology, Hangzhou Third People\u2019s Hospital, Hangzhou, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Wei","family":"Yang","sequence":"additional","affiliation":[{"name":"3Department of Pediatrics, The First People\u2019s Hospital of Wenling City, Wenling, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi-Lie","family":"Cao","sequence":"additional","affiliation":[{"name":"1Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiu-Hua","family":"Yu","sequence":"additional","affiliation":[{"name":"1Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu-Dong","family":"Fang","sequence":"additional","affiliation":[{"name":"1Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Da-Hong","family":"Zhang","sequence":"additional","affiliation":[{"name":"4Department of Urologic Surgery, Zhejiang Provincial People\u2019s Hospital, People\u2019s Hospital of Hangzhou Medical College, Hangzhou, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Qiang","family":"Zhao","sequence":"additional","affiliation":[{"name":"5Department of Head and Neck Surgery, Zhejiang Cancer Hospital, Hangzhou, Zhejiang Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref221","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1046\/j.1365-2265.2003.01782.x","article-title":"Frequent association between MEN 2A and cutaneous lichen amyloidosis","volume":"59","year":"2003","journal-title":"Clinical Endocrinology"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/j.neo.2014.09.002","article-title":"Adrenal medullary hyperplasia is a precursor lesion for pheochromocytoma in MEN2 syndrome","volume":"16","year":"2014","journal-title":"Neoplasia"},{"key":"ref711","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1210\/jc.2011-2046","article-title":"The timing of total thyroidectomy in RET gene mutation carriers could be personalized and safely planned on the basis of serum calcitonin: 18 years experience at one single center","volume":"97","year":"2012","journal-title":"Journal of Clinical Endocrinology and 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