| Hereditary MTC (25% Cases): Associated with almost all cases with germline RET mutation (Exon 5, 8, 10, 11, 13, 14, 15 & 16). | | - MEN 2A: 85% cases mutation at Exon 11, codon 634 | | Other mutations Exon 10 and 11, codon 609, 611, 618, 620 | | - MEN 2B: Exon 16, codon 918 (Most common) | | - Disseminated and aggressive variant (commonly in children and young): M918T | | Sporadic MTC (75% of all cases): | | - RET positive group: 35% cases with somatic RET mutations | | - RET negative group: | | (1) Criteria: Negative for common germline mutations in Exon 5, 8, 10, 11, 13, 14, 15 & 16 | | (2) Other Mutations to be identified: | | (i) RAS mutation—(Almost 80% of remaining RET negative cases) | | (ii) H-RAS (>50%): Exon 2, codon 13; Exon 3, codon 61; Exon 4, codon 63 | | (iii) K-RAS (<30%): Exon 3, codon 61; Exon 2, codon 13; Exon 4, codon 117 | |
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