Novel p.C620L RET Mutation Detected in a Patient with Medullary Thyroid Carcinoma
作者： Rebecca L. Margraf , Patti M. F. Krautscheid , David C. Pattison , Karl V. Voelkerding , Rong Mao
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摘要: A patient with an apparent sporadic medullary thyroid carcinoma was tested for RET germline mutations by Sanger sequencing of exons 10, 11, and 13-16. The heterozygous two known causative Multiple Endocrine Neoplasia type 2 disorder, both were within codon 620 exon c.1859G > T (p.C620F) c.1860C G (p.C620W). In order to determine if these adjacent in cis or trans, unlabeled probe method high-resolution melting analysis utilized. confirmed occur cis, representing a novel mutation, c.1859_1860delinsTG (p.C620L). parental samples did not identify any changes at 620, so the p.C620L mutation is also de novo. early age onset presence lymph node metastasis this suggests individuals should be treated screened (for pheochromocytomas parathyroid hyperplasia) as patients other (American Thyroid Association risk level B).
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