4
Diagnosis
Table 2. Relationship of Common RET Mutations to Risk of
Aggressive MTC in MEN2A and MEN2B and to the
Incidence of PHEO, HPTH, CLA and HD in MEN2A
RET Mutation Exon
MTC risk
level
a
Incidence
of PHEO
b
Incidence
of HPTH
b
CLA
c
HD
A883F 15 H +++ - N N
C609F/G/R/S/Y 10 MOD +/++ + N Y
C611F/G/S/Y/W 10 MOD +/++ + N Y
C620F/R/S 10 MOD +/++ + N Y
C634F/G/R/S/W/Y 11 H +++ ++ Y N
D631Y 11 MOD +++ - N N
E768D 13 MOD - - N N
G533C 8 MOD + - N N
K666E 11 MOD + - N N
L790F 13 MOD + - N N
M918T 16 HST +++ - N N
R912P 16 MOD - - N N
S891A 15 MOD + + N N
V804L 14 MOD + + N N
V804M 14 MOD + + Y N
a
Risk of aggressive MTC: MOD=Moderate, H=High, HST= Highest
b
Incidence of PHEO and HPTH,
c
Y=positive occurrence, N=negative occurrence: + = ~10%, ++ = ~20-30%, +++ = ~50%.
e references for each of the RET mutations can be found in the Supplemental Information,
where all reported RET mutations in MTC are listed. [www.thyca.org/download/document/280/
MTCguidelines.pdf ]
