Table 2.

KIT, NRAS, and BRAF mutations identified in primary mucosal melanomas

NucleotideAmino AcidKIT copyIHC
CaseSiteGeneExonChangeChangeNumberKITap-ERKbp-AKTc
1VulvaKIT11T1669CW557R≥4>50
2VulvaKIT11T1676AV559D3 to <4>50++
3VulvaKIT11T1679AV560Dndd>50++
4VulvaKIT11C1718TP573L<3<5
5AnorectumKIT11T1727CL576P<3>50
6AnorectumKIT11T1727CL576P≥4>50+
7Nasal cavityKIT11T1727CL576P≥4>50+
8VulvaKIT11T1727CL576P<3>50++
9VulvaKIT11T1727CL576Pnd>50
10PenisKIT111722insACA, 1723_1731del9T574insT, Q575_P577del3 to <4>50++
11VulvaKIT17G2458TD820Ynd>50++
12VulvaKIT17T2466GN822K≥4>50+
13VaginaNRAS1G35AG12D3 to <4<5++
14AnorectumNRAS1G38AG13D3 to <45–50++
15PenisNRAS1G38AG13Dnd<5
16Nasal cavityNRAS2C181AQ61Knd<5
17Nasal cavityNRAS2A182GQ61Rnd5–50+
18VaginaNRAS2A182TQ61Lnd5–50++
19VaginaNRAS2A183TQ61H<3<5+
20PenisBRAF15A1781GD594G3 to <4<5
21AnorectumBRAF15C1789GL597V≥4>50++
22VulvaBRAF15T1799AV600End<5+
23VulvaBRAF15T1799AV600E<3<5
  • aPercent positive tumor cells.

  • b+ = positive p-ERK staining, – = negative p-ERK staining.

  • c+ = positive p-AKT staining, – = negative p-AKT staining.

  • dNot determined.