394
- What are the common RET mutations associated with different variants of MEN
2 syndrome?
The RET mutations associated with different variants of MEN2 syndrome are
summarized in the table given below.MEN 2A MEN 2B FMTC
Codon 634 (exon 11) – 85 % Codon 918 (exon
16) – 95 %Exon 10 and 11Codon 609, 611, 618, and 620 (exon 10),
codon 630 (exon 11) – 15 %Codon 883 (exon
15) – 5 %Codon 768, 790, 791
(exon 13)
Codon 804, 844 (exon
14)
Codon 891 (exon 15)- What is the importance of RET mutational analysis in the management of MEN
2 syndrome?
The RET genotype analysis predicts the aggressiveness of MTC, and this
information is useful in the surgical management of MTC. The different RETFig. 11.6 Blubbery lips
and mucosal neuromas in a
patient with MEN2B
syndrome. Note the scar in
the neck after surgery for
MTC
11 Multiple Endocrine Neoplasia