Multiple endocrine neoplasia type 2A (MEN2A), a subtype of MEN2, is characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. A Han Chinese pedigree with MEN2A was investigated fo...Multiple endocrine neoplasia type 2A (MEN2A), a subtype of MEN2, is characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. A Han Chinese pedigree with MEN2A was investigated following confirmation of the proband's diagnosis by pathological findings and DNA/biochemical screening. DNA samples from 4 other family members were collected and exon 5, 8, 10, 11, 13, 16 and 18 of the RET proto-oncogene were sequenced and then analyzed. A missense mutation of TGG (Trp) to TGC (Cys) at codon 634 (the classic MEN2A mutation) in exon 11 of the RET gene was detected in 3 family members, including the proband. Sequencing data were compared with the human gene mutation database. Elevated serum calcitonin level was detected initially; medullary thyroid carcinoma was revealed in the 3 cases and adrenal pheochromocytoma was also found in the proband. Elective operations were successfully performed on the adrenal and thyroid glands because of pheochromocytoma and medullary thyroid carcinoma. Our case study confirms that integrated DNA-based/biochemical screening is crucial for early diagnosis of MEN2A and is helpful in the screening of their relatives. In addition, DNA-based screening may occasionally uncover a previously unknown RET sequence.展开更多
基金supported by grant 81170747 from the National Natural Sciences Foundation of Chinagrant H201106 from Health Promotion Foundation of Jiangsu Provincegrant from the Office of Human Resources and Social Security of Jiangsu Province (Peak of the Six Personnel in Jiangsu Province) to Hongwen Zhou
文摘Multiple endocrine neoplasia type 2A (MEN2A), a subtype of MEN2, is characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. A Han Chinese pedigree with MEN2A was investigated following confirmation of the proband's diagnosis by pathological findings and DNA/biochemical screening. DNA samples from 4 other family members were collected and exon 5, 8, 10, 11, 13, 16 and 18 of the RET proto-oncogene were sequenced and then analyzed. A missense mutation of TGG (Trp) to TGC (Cys) at codon 634 (the classic MEN2A mutation) in exon 11 of the RET gene was detected in 3 family members, including the proband. Sequencing data were compared with the human gene mutation database. Elevated serum calcitonin level was detected initially; medullary thyroid carcinoma was revealed in the 3 cases and adrenal pheochromocytoma was also found in the proband. Elective operations were successfully performed on the adrenal and thyroid glands because of pheochromocytoma and medullary thyroid carcinoma. Our case study confirms that integrated DNA-based/biochemical screening is crucial for early diagnosis of MEN2A and is helpful in the screening of their relatives. In addition, DNA-based screening may occasionally uncover a previously unknown RET sequence.
基金This work is supported by Beijing Natural Science Foundation (No. 2122027), the National Basic Research Program of China (No. 2011CB013000), the National Natural Science Foundation of China (No. 51372133), and the Tsinghua University Initiative Scientific Research Program (No. 2012Z02102).
基金This work was supported by the National Natural Science Foundation of China (NSFC, No. 91127004) and the Beijing City Science and Technology Program (No. Z121100001312005).
基金This work was supported by Beijing Science and Technology Program (No. D141100000514001), National Natural Science Foundation of China (No. 51372133), and National Program on Key Basic Research Project (Nos. 2011CB013000 and 2014CB932401)
基金This work was supported by the National Natural Science Foundation of China (No. 51172122), the Foundation for the Author of National Excellent Doctoral Dissertation (No. 2007B37) and the Program for New Century Excellent Talents in University, the Tsinghua University Initiative Scientific Research Pro-gram (No. 20111080939), and the China Postdoctoral Science Foundation (No. 2011M500310). We thank Prof. Yonggang Zhao and Dr. Xingli Jiang for their help in testing the capacitors.
基金Acknowledgements This work was supported by National Science Foundation of China (Nos. 51372133 and 91323304), Beijing Science and Technology Program (No. D141100000514001), and Beijing Natural Science Foundation (No. 2122027).
基金This work was supported by the National Science Foundation of China (NSFC) under grant number 51072005. H. W. Zhu acknowledges the support by theNational Science Foundation of China (No. 50972067), Tsinghua National Laboratory for Information Science and Technology (TNList) Cross-discipline Foundation and Foundation for the Authors of National Excellent Doctoral Dissertations (No. 201038). We acknowledge Yan Li from College of Chemistry in Peking University for help in Raman measurement.
基金This work is supported by the National Natural Science Foundation of China (No. 51372133), the Beijing Science and Technology Program (No. D141100000514001), the National Program on Key Basic Research Projects (Nos. 2013CB934201, 2011CB013000), and the Tsinghua University Initiative Scientific Research Program (No. 2012Z02102).
基金This work is supported by the National Natural Science Foundation of China (NSFC, Grant No.50972067) and the 863 Program (No. 2009AA05Z423). A. Cao acknowledges the support by the National Science Foundation of China (NSFC, No. 51072005) and C. Huang acknowledges NSFC No. 90922004 for financial support.