Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma.

Abstract:

IMPORTANCE:Mutations driving melanoma growth have diagnostic, prognostic, and therapeutic implications. Traditional classification systems do not correlate optimally with underlying melanoma growth-promoting mutations. Our objective was to determine whether unique dermoscopic growth patterns directly correlate with driving mutations. OBSERVATIONS:We evaluated common driving mutations in 4 different dermoscopic patterns (rhomboidal, negative pigmented network, polygonal, and dark homogeneous streaks) of primary cutaneous melanomas; 3 melanomas per pattern were tested. Three of the 4 patterns lacked common mutations in BRAF, NRAS, KIT, GNAQ, and HRAS. One pattern, the dark homogeneous streaks pattern, had unique KIT mutations in the second catalytic domain of KIT in exon 17 for all 3 samples tested. Two tumors with the dark homogeneous streaks pattern turned out to be different primary melanomas from the same patient and had different sequence mutations but had an impact on the same KIT domain. CONCLUSIONS AND RELEVANCE:While future study is required, these results have multiple implications. (1) The underlying melanoma-driving mutations may give rise to specific dermoscopic growth patterns, (2) BRAF/NRAS mutations in early melanomas may not be as common as previously thought, and (3) patients may be predisposed to developing specific driving mutations giving rise to melanomas or nevi of similar growth patterns.

journal_name

JAMA Dermatol

journal_title

JAMA dermatology

authors

Sanchez MI,Rabinovitz HS,Oliviero MC,Elgart GW,Perez C,Puig S,Malvehy J,Grichnik JM

doi

10.1001/jamadermatol.2013.8442

subject

Has Abstract

pub_date

2014-06-01 00:00:00

pages

633-9

issue

6

eissn

2168-6068

issn

2168-6084

pii

1852352

journal_volume

150

pub_type

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