TY - JOUR
T1 - BRAF and KIT somatic mutations are present in amelanotic melanoma
AU - Massi, Daniela
AU - Pinzani, Pamela
AU - Simi, Lisa
AU - Salvianti, Francesca
AU - De Giorgi, Vincenzo
AU - Pizzichetta, Maria A.
AU - Mirri, Francesco
AU - Steffan, Agostino
AU - Orlando, Claudio
AU - Santucci, Marco
AU - Canzonieri, Vincenzo
PY - 2013
Y1 - 2013
N2 - The genotypic profile of rare amelanotic melanomas (AMs) has been poorly investigated, thus preventing either an accurate identification as a distinctive melanoma subtype or therapy stratification. Here, we investigated the presence of the BRAFV600E mutation by real-time quantitative PCR and KIT mutations (exons 11 and 17) by sequencing analysis in 33 AMs. AMs included 'truly' amelanotic lesions (n = 19), with no melanin pigmentation upon dermoscopic inspection and hypomelanotic lesions (n = 14), by definition partially pigmented lesions showing a melanin pigmentation area of less than 25% of the total surface area. The frequency of the BRAFV600E mutation was 70.3% in the 33 cases, a percentage that increased to 89% when only the subgroup of thin melanomas (≤ 1mm in thickness, n = 9) was considered. KIT mutations were found in 12.1% of AMs, all of which developed in nonacral sites. The identification of a relatively high frequency of BRAFV600E and KIT mutations in AMs may have important consequences for implementation of the novel targeted therapies now available to treat this life-threatening disease.
AB - The genotypic profile of rare amelanotic melanomas (AMs) has been poorly investigated, thus preventing either an accurate identification as a distinctive melanoma subtype or therapy stratification. Here, we investigated the presence of the BRAFV600E mutation by real-time quantitative PCR and KIT mutations (exons 11 and 17) by sequencing analysis in 33 AMs. AMs included 'truly' amelanotic lesions (n = 19), with no melanin pigmentation upon dermoscopic inspection and hypomelanotic lesions (n = 14), by definition partially pigmented lesions showing a melanin pigmentation area of less than 25% of the total surface area. The frequency of the BRAFV600E mutation was 70.3% in the 33 cases, a percentage that increased to 89% when only the subgroup of thin melanomas (≤ 1mm in thickness, n = 9) was considered. KIT mutations were found in 12.1% of AMs, all of which developed in nonacral sites. The identification of a relatively high frequency of BRAFV600E and KIT mutations in AMs may have important consequences for implementation of the novel targeted therapies now available to treat this life-threatening disease.
KW - Amelanotic melanoma
KW - BRAFV600E
KW - KIT
KW - Somatic mutations
UR - http://www.scopus.com/inward/record.url?scp=84887994081&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84887994081&partnerID=8YFLogxK
U2 - 10.1097/CMR.0b013e32836477d4
DO - 10.1097/CMR.0b013e32836477d4
M3 - Article
C2 - 23938765
AN - SCOPUS:84887994081
VL - 23
SP - 414
EP - 419
JO - Melanoma Research
JF - Melanoma Research
SN - 0960-8931
IS - 5
ER -