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KMID : 0361020070500060529
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Korean Journal of Otolaryngology - Head and Neck Surgery
2007 Volume.50 No. 6 p.529 ~ p.536
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Analysis of RET Gene Point Mutation in a Family with Multiple Endocrine Neoplasia Type 2A
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Kim Sung-Won
Lee Kang-Dae
Kim Ju-Yeon
Moon Hyo-Sung
Kim Young-Rok
Park Yo-Han
Lee Kil-Soo
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Abstract
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Background & Objectives: Multiple Endocrine Neoplasia type 2A (MEN 2A) is a syndrome that encompasses medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. Since MEN 2A is inherited as autosomal dominant, early detection and treatment is crucial. A genetic analysis of RET proto-oncogene of the family members of an index patient diagnosed as MEN 2A is reported.
Subjects & Methods: A patient diagnosed as MEN 2A and his 13 family members across two generations were studied. Initially, DNA was extracted from the peripheral blood leukocyte of family members and PCR amplification of exons 10, 11, 13, 14, 15, and 16 was performed, followed by investigation of point mutation on the RET proto-oncogene using a DNA sequence analyzer. Cervical ultrasonography was carried out in the 3 nephews who were revealed to have RET proto-oncogene point mutation.
Results: Point mutations of TGC (cys) to TGG (Trp) at codon 634 of exon 11 at RET proto-oncogene was detected by using automatic DNA sequence analyzing method in the index patient. The same point mutation was identified in 7 of the 13 family members. Cervical ultrasonography revealed bilateral thyroid nodules in all 3 nephews who had point mutations of RET proto-oncogene.
Conclusion: With the genetic analysis of RET proto-oncogene, limitations of the conventional calcitonin stimulation test may be overcome, and a more complete approach can be achieved through early diagnosis by carrying out this screening test for point mutations in family members of the patient with MEN 2A.
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KEYWORD
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MEN 2A, Medullary thyroid carcinoma, RET proto-oncogen, Point Mutation
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