Sisson James C, Giordano Thomas J, Raymond Victoria M, Doherty Gerard M, Gruber Stephen B
Department of Radiology, Division of Nuclear Medicine, University of Michigan Health System, UH B1 G505D, Ann Arbor, MI 48109-0028, USA.
Endocr Pathol. 2008 Winter;19(4):289-93. doi: 10.1007/s12022-008-9049-8.
Hyperparathyroidism and/or parathyroid hyperplasia, medullary thyroid carcinoma (MTC), and pheochromocytomas compose the hallmarks of the multiple endocrine neoplasia type 2A (MEN 2A) syndrome. Revisiting a report in 1939 of a patient with hyperparathyroidism and parathyroid hyperplasia led to a search for evidence of MEN 2A. From medical records and discussion with family members, longitudinal follow-up of the patient and her descendants was obtained. Molecular diagnostics were integrated in the care of subsequent generations. The literature on hyperparathyroidism and MEN 2A was reviewed. Children of the proband exhibited all components of MEN 2A and the RET mutation of 634 TGC>CGC. The pedigree was typical for this mutation. Papers on anthropologic studies demonstrate skeletal evidence of hyperparathyroidism in humans centuries ago. The initial report of the proband preceded the publications defining both MTC and MEN 2A. The values of in-depth family histories and genetic analyses are exemplified.
甲状旁腺功能亢进和/或甲状旁腺增生、甲状腺髓样癌（MTC）以及嗜铬细胞瘤构成了2A型多发性内分泌腺瘤病（MEN 2A）综合征的特征。回顾1939年一份关于甲状旁腺功能亢进和甲状旁腺增生患者的报告，引发了对MEN 2A证据的探寻。通过查阅病历并与家庭成员讨论，对该患者及其后代进行了长期随访。分子诊断被纳入对后代的护理中。对关于甲状旁腺功能亢进和MEN 2A的文献进行了综述。先证者的子女表现出MEN 2A的所有特征以及634 TGC>CGC的RET突变。该家系对于此突变具有典型性。关于人类学研究的论文表明，几个世纪前人类就有甲状旁腺功能亢进的骨骼证据。先证者的最初报告早于定义MTC和MEN 2A的出版物。文中举例说明了深入家族史和基因分析的价值。
