The results for mutations in the RET gene can help to identify the risk for medullary carcinoma in a patient with the MEN2 syndrome.
Parameters:
(1) type of MEN2 syndrome
(2) RET codon with mutation
Type of MEN2 |
RET codon |
Risk Group |
MEN2B |
NA |
highest (Level 3) |
NA |
883, 918, 922 |
highest (Level 3) |
MEN2A |
611, 618, 620, 634 |
high (Level 2) |
MEN2A |
609, 768, 790, 791, 804, 891 |
Level 1 |
Risk Group |
Timing of Total Thyroidectomy |
Level 3 |
ideally within 1 month of birth; no later than 6 months of age |
Level 2 |
before 5 years of age |
Level 1 |
varied recommendations (by 5 years of age, by 10 years of age, based on pentagastrin stimulated calcitonin test) |
Specialty: Hematology Oncology, Genetics, Surgery, general