14
Treatment
Figure 2. Management of Patients with a RET Germline
Mutation Detected on Genetic Screening
RET Germline mutation
• Normal physical exam and normal US of the neck
• Measure serum levels of Ctn and CEA
MEN2B
(ATA-HST)
MEN2A
(ATA-H)
MEN2A
(ATA-MOD)
TTX in the
first year, or the
first months
of life, based
on discussions
with the
endocrinologist,
the surgeon,
and the parents.
Level VI lymph
node dissection
dependent on the
ability to identify
and preserve
or transplant
the parathyroid
glands
TT at or before 5
years of age based
on serum Ctn
levels
TTX to be
performed when
the serum Ctn
level becomes
elevated, or in
childhood if the
parents do not
wish to embark
on a lengthly
period of
evaluation, which
might last for
years or decades
• Physical exam,
US of the neck,
and measurement
of serum levels
of Ctn and CEA
every 6 months
for one year then
annually
• Begin screening
for PHEO at 11
years of age
• Following with
evaluation every 6
months for 1 year,
then annually if
serum Ctn remains
undetectable or
within normal range
• Begin screening for
PHEO at 16 years
of age
Children
Elevated
serum Ctn
Normal
serum Ctn
Adults
Annual
testing. If
Ctn becomes
elevated,
• Exclude PHEO
• TTX and
dissection of
lymph node
compartments
depending
on US
findings and
preoperative
serum Ctn
levels
• If serum Ctn is elevated but <150 pg/mL measure
serum levels of Ctn and CEA every 3-6 months to
determine doubling times
• If serum Ctn is >150 pg/mL initiate imaging
procedures to detect MTC metasases
• If metasases are found, treatment is based on site. If
systemic disease consider systemic therapies
