کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2791891 1154982 2010 12 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical and molecular genetics of parathyroid neoplasms
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
پیش نمایش صفحه اول مقاله
Clinical and molecular genetics of parathyroid neoplasms
چکیده انگلیسی

Primary hyperparathyroidism (HPT) results from the excessive secretion of parathyroid hormone from parathyroid tumours. While most HPT is sporadic, it is associated with a familial syndrome in a minority of cases. The study of these syndromes has helped define the pathophysiology of both familial and sporadic parathyroid neoplasms. Investigation of kindred with multiple endocrine neoplasia type 1 (MEN1) and the hyperparathyroidism-jaw tumour syndrome (HPT-JT) led to the discovery of the tumour suppressor genes MEN1and HRPT2. We now recognise that somatic mutations in MEN1 and HRPT2 tumour suppressor genes are frequent events in sporadic parathyroid adenomas and carcinomas, respectively. Parathyroid tumours in the MEN2A syndrome result from mutational activation of the RET oncogene. The CCND1/PRAD1 oncogene was discovered by analysis of sporadic parathyroid tumours. Studies of familial isolated HPT and analysis of chromosomal loss and gain in parathyroid tumours suggest that other genes relevant to parathyroid neoplasia await identification.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Best Practice & Research Clinical Endocrinology & Metabolism - Volume 24, Issue 3, June 2010, Pages 491–502
نویسندگان
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