Table 3.

Multiple Endocrine Neoplasia Type 2: Genotype-Phenotype Correlations

Affected Codon /
Predicted Protein Change		ExonATA Risk of MTCMEN2 SubtypePCCHPTAdditional Clinical Features
p.Cys60910MODMEN2A; FMTC++HSCR
p.Cys61110MODMEN2A; FMTC++HSCR
p.Cys61810MODMEN2A; FMTC++HSCR
p.Cys62010MODMEN2A; FMTC++HSCR
p.Cys63011MODMEN2A++−
p.Cys63411HMEN2A++CLA
p.Leu79013MODMEN2A+−PTC
p.Val804Leu14MODMEN2A++−
p.Val804Met14MODMEN2A++PTC; CLA
p.Ala883Phe15HMEN2B+−−
p.Met918Thr16HSTMEN2B+−−

+ = present; − = absent; ATA = American Thyroid Association; CLA = cutaneous lichen amyloidosis; FMTC = familial medullary thyroid carcinoma; H = high risk: HPT = hyperparathyroidism; HST = highest risk; HSCR = Hirschsprung disease; MEN2 = multiple endocrine neoplasia; MEN2A = multiple endocrine neoplasia type 2A; MEN2B = multiple endocrine neoplasia type 2B; MOD = moderate risk; MTC = medullary thyroid carcinoma; PCC = pheochromocytoma; PTC = papillary thyroid cancer

From: Multiple Endocrine Neoplasia Type 2

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