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 11
Codon 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 RET
Fig. 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