Familial Cushing syndrome due to thymic carcinoids in a multiple endocrine neoplasia type 1 kindred.
The objective of this study is to present a familial Cushing syndrome (CS) caused by multiple endocrine neoplasia type 1 (MEN-1)-associated thymic carcinoid. Immunohistochemistry, gene sequencing, loss of heterozygosity analysis, and Western blot were used to determine the expression of ACTH in MEN-1-related thymic tumors, MEN1 gene mutation, the pattern and extent of allelic deletion, and the expression of Menin in MEN-1-associated tumors, respectively. Tumor cells from thymus ectopic-secreted ACTH. A deletion involving the MEN1 gene locus was confirmed. The expression of Menin in MEN-1-associated tumors declined. To conclude, we presented an unusual kindred of MEN-1, which pointed out the significance of making screening of MEN-1 for both male and female patients with CS and thymic carcinoid.
Department of Endocrinology and Metabolism, Shanghai First People's Hospital, School of Medicine, Shanghai Jiao Tong University, Haining Road 100, Shanghai, 200080, China.
Xiaohua
X
Li
Jing
J
Su
Li
L
Zhao
Jingcheng
J
Wu
Xiaoying
X
Ding
Fang
F
Fang
Yijie
Y
Wu
Haiyan
H
Sun
Yongde
Y
Peng
D000182:ACTH Syndrome, Ectopic / Q000150:complications; D000328:Adult; D002276:Carcinoid Tumor / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D003480:Cushing Syndrome / Q000175:diagnosis / Q000209:etiology*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000150:complications* / Q000175:diagnosis; D010375:Pedigree; D013953:Thymus Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism