MEN2 Database MTC Onset

The youngest reported age (in years) of patients with MTC or metastatic MTC for each RET sequence change as reported in the literature. A median age of MTC onset or an age of MTC onset less than one year are listed in the MEN2 database Comments column. When the entry’s genotype has "see comments" (which means this particular sequence change has been found with another RET sequence change), the listed youngest age of MTC Onset is for patients with both sequence changes. If the youngest reported age of onset for a Pheo or HPT is less than 25 years, it is listed the Comments column.

Note: the MTC, Pheo, or HPT could still occur earlier than the age given in the database; since age of diagnosis does not necessarily correlate with age of occurrence, age of onset was not provided in all reports, or some reported ages were for metastatic MTC (as stated in the comments).

Since therapy is decided by the codon containing the pathogenic RET variant, the youngest age of onset by codon as reported in the literature for MTC, Pheo and HPT are given in the Table below. An article by de Groot et al. lists the recommended ages for thyroidectomy and screening for Pheo and HPT by codon of RET variant. A recent article by Kloos et al. describes the American Thyroid Association 'ATA risk levels' (Tables 5 and 6 in the article) and management guidelines.

Youngest age of onset by codon of RET variants for MTC, Pheo and HPT

Information in this Table will be updated as needed, during the quarterly database updates.

RET
codon
ATA Risk
Level *
MTC
(years)
Pheo
(years)
HPT
(years)
533 A 21 29
609 B 4 19 (C609S) 38
611 B 6 26 40
618 B 5 19 41
620 B 5 16  
630 B 1   32
634 C 0.8 5 5
768 A 7 54  
790 A 10 28  
804 A 6 28 9
883 D 10 11  
891 A 9 41 17
918 D 0.17 10  

* D is the highest risk of aggressive MTC.
Metastatic MTC.
Age of MTC onset was 9 weeks.