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

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...

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Authors: Sanchez, Margaret I., Rabinovitz, Harold S., Oliviero, Margaret, Elgart, George W., Perez, Carmen, Puig i Sardà, Susana, Malvehy, J. (Josep), Grichnik, James M.
Format: article
Status:Published version
Publication Date:2014
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/120697
Online Access:https://hdl.handle.net/2445/120697
Access Level:Open access
Keyword:Melanoma
Mutació (Biologia)
Microscòpia mèdica
Càncer de pell
Mutation (Biology)
Medical microscopy
Skin cancer
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spelling Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanomaSanchez, Margaret I.Rabinovitz, Harold S.Oliviero, MargaretElgart, George W.Perez, CarmenPuig i Sardà, SusanaMalvehy, J. (Josep)Grichnik, James M.MelanomaMutació (Biologia)Microscòpia mèdicaCàncer de pellMelanomaMutation (Biology)Medical microscopySkin cancerMutations 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.American Medical Association2018201820142018info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion7 p.application/pdfhttps://hdl.handle.net/2445/120697Articles publicats en revistes (Medicina)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1001/jamadermatol.2013.8442JAMA Dermatology, 2014, vol. 150, num. 6, p. 633-639https://doi.org/10.1001/jamadermatol.2013.8442(c) American Medical Association, 2014info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1206972026-05-29T05:05:01Z
dc.title.none.fl_str_mv Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
title Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
spellingShingle Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
Sanchez, Margaret I.
Melanoma
Mutació (Biologia)
Microscòpia mèdica
Càncer de pell
Melanoma
Mutation (Biology)
Medical microscopy
Skin cancer
title_short Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
title_full Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
title_fullStr Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
title_full_unstemmed Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
title_sort Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
dc.creator.none.fl_str_mv Sanchez, Margaret I.
Rabinovitz, Harold S.
Oliviero, Margaret
Elgart, George W.
Perez, Carmen
Puig i Sardà, Susana
Malvehy, J. (Josep)
Grichnik, James M.
author Sanchez, Margaret I.
author_facet Sanchez, Margaret I.
Rabinovitz, Harold S.
Oliviero, Margaret
Elgart, George W.
Perez, Carmen
Puig i Sardà, Susana
Malvehy, J. (Josep)
Grichnik, James M.
author_role author
author2 Rabinovitz, Harold S.
Oliviero, Margaret
Elgart, George W.
Perez, Carmen
Puig i Sardà, Susana
Malvehy, J. (Josep)
Grichnik, James M.
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Melanoma
Mutació (Biologia)
Microscòpia mèdica
Càncer de pell
Melanoma
Mutation (Biology)
Medical microscopy
Skin cancer
topic Melanoma
Mutació (Biologia)
Microscòpia mèdica
Càncer de pell
Melanoma
Mutation (Biology)
Medical microscopy
Skin cancer
description 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.
publishDate 2014
dc.date.none.fl_str_mv 2014
2018
2018
2018
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/120697
url https://hdl.handle.net/2445/120697
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1001/jamadermatol.2013.8442
JAMA Dermatology, 2014, vol. 150, num. 6, p. 633-639
https://doi.org/10.1001/jamadermatol.2013.8442
dc.rights.none.fl_str_mv (c) American Medical Association, 2014
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) American Medical Association, 2014
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 7 p.
application/pdf
dc.publisher.none.fl_str_mv American Medical Association
publisher.none.fl_str_mv American Medical Association
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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