Genetic and Clinical Features of Medullary Thyroid Carcinoma: The Experience of a Single Center in Costa Rica

Table 1

Characteristics of patients with a positive germ-line RET mutation and MTC.

Patient number	Age at dx	Exon	Codon	Amino acid change	ATA risk	Clinical diagnosis
1	52	14	804	V/M	A, moderate	Sporadic MTC
2	53	10	611	C/R	B, moderate	MEN 2A: PHEO and MTC
3	24	13	790	L/F	A, moderate	FMTC
4	53	13	790	L/F	A, moderate	FMTC
5	10	16	918	M/T	D, highest	MEN 2B: marfanoid habitus and MTC

ATA: American Thyroid Association, MTC: medullary thyroid carcinoma, FMTC: familial MTC, MEN 2: multiple endocrine neoplasia type 2, and PHEO: pheochromocytoma.