Frilling A, Bockhorn M, Kalinin V, Liedke M, Kaun M, Broelsch C E
Abteilung für Allgemeinchirurgie, Universitäts-Krankenhaus Hamburg-Eppendorf.
Chirurg. 1997 Aug;68(8):789-93. doi: 10.1007/s001040050271.
Germline mutations of the RET proto-oncogene localized on chromosome 10q11.2 are the underlying cause of hereditary medullary thyroid carcinoma. In MEN 2A and FMTC, mutations can be found in exons 10, 11, 13 or 14. MEN 2B is characterized by a specific mutation in exon 16. In a significant number of sporadic MTC somatic mutations in codon 918 (exon 16) are detectable. Some rare sporadic MTC present somatic mutations in codons 611, 634, 768 and 883. Recently, deletion-insertion of the RET proto-oncogene in exon 11 and a deletion in exon 10 has been found. RET proto-oncogene mutations are not only responsible for the development of the familial MTC, but may also play an important role in the pathogenesis of sporadic MTC. However, the prognostic relevance of these somatic events is still unclear.
位于10q11.2染色体上的RET原癌基因的种系突变是遗传性甲状腺髓样癌的根本原因。在MEN 2A和FMTC中，可在外显子10、11、13或14中发现突变。MEN 2B的特征是外显子16中的特定突变。在大量散发性MTC中，可检测到密码子918（外显子16）的体细胞突变。一些罕见的散发性MTC在密码子611、634、768和883中存在体细胞突变。最近，在外显子11中发现了RET原癌基因的缺失插入以及外显子10中的缺失。RET原癌基因突变不仅是家族性MTC发生的原因，也可能在散发性MTC的发病机制中起重要作用。然而，这些体细胞事件的预后相关性仍不清楚。
