“GENETICALLY-GUIDED” PROPHYLACTIC
THYROIDECTOMY
In patients
with MEN2, there is predictable evolution from C-cell hyperplasia (CCH) to
medullary thyroid cancer (MTC), with a very high penetrance (~ 100 %). The aim
of prophylactic thyroidectomy (PT) is to prevent the development of MTC or to
eradicate the disease (when already developed) at an early stage, when it is
still confined within the thyroid gland. This surgical strategy achieves cure
or prevention of MTC by early thyroidectomy (prophylactic). The timing of PT is
determined based on the particular genetic alterations (mutations) in the
individual mutation-carrier. Serum calcitonin levels should also be taken into
consideration.
RET
mutations are categorized as highest, high and moderate risk, referring to the
risk for local and distant MTC disease at an early stage.
HIGHEST
RISK:
Germline
mutation in codon 918
Thyroidectomy
(with prophylactic central lymph node dissection) during the 1st
year of life
HIGH RISK
Germline
mutations in codons 634 or 883
Thyroidectomy
at age 5 years or before
Serum calcitonin
levels should be taken into consideration to select the exact timing of
thyroidectomy
MODERATE
RISK
Germline
mutations in codons 609, 611, 618, 620, 630, 666, 768, 790, 804, 891 and 912
Thyroidectomy
during childhood or young adulthood
Serum calcitonin
levels should be taken into consideration to select the exact timing of
thyroidectomy
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