Mutational status of nevus-associated melanomas.

Introduction Melanoma origin has always been a debated subject, as well as the role of adjacent melanocytic nevi. Epidemiological and histopathological studies point to melanomas arising either de novo or from a nevus. Methods Sixty-one melanomas found in association with a preexisting nevus were mi...

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Autores: Shitara, Danielle, Tell Martí, Gemma, Badenas Orquin, Celia, Enokihara, MM., Alós i Hernández, Llúcia, Larque, A.B., Michalany, Nilceo, Puig Butillé, Joan Anton, Carrera Álvarez, Cristina, Malvehy, J. (Josep), Puig i Sardà, Susana, Bagatin, E.
Formato: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2015
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/106731
Acesso em linha:https://hdl.handle.net/2445/106731
Access Level:acceso abierto
Palavra-chave:Melanoma
Oncologia
Càncer
Mutació (Biologia)
Oncology
Cancer
Mutation (Biology)
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repository_id_str
spelling Mutational status of nevus-associated melanomas.Shitara, DanielleTell Martí, GemmaBadenas Orquin, CeliaEnokihara, MM.Alós i Hernández, LlúciaLarque, A.B.Michalany, NilceoPuig Butillé, Joan AntonCarrera Álvarez, CristinaMalvehy, J. (Josep)Puig i Sardà, SusanaBagatin, E.MelanomaOncologiaCàncerMutació (Biologia)MelanomaOncologyCancerMutation (Biology)Introduction Melanoma origin has always been a debated subject, as well as the role of adjacent melanocytic nevi. Epidemiological and histopathological studies point to melanomas arising either de novo or from a nevus. Methods Sixty-one melanomas found in association with a preexisting nevus were microdissected, after careful selection of cell subpopulations and submitted to Sanger sequencing of the BRAF, NRAS, C-KIT, PPP6C, STK19 and RAC1 genes. Each gene was evaluated twice in all samples by sequencing or by sequencing and another confirmation method, allele-specific fluorescent polymerase chain reaction (PCR) and capillary electrophoresis detection, or by SNaPshot Analysis. Only mutations confirmed via two different molecular methods or twice by sequencing were considered positive. Results The majority of cases presented concordance of mutational status between melanoma and the associated nevus for all 6 genes (40/60; 66.7%). Nine cases presented concomitant BRAF and NRAS mutations, including one case, in which both the melanoma and the adjacent nevus harbored V600E and Q61K double mutations. In two cases, both melanoma and associated nevus, located on acral sites were BRAF mutated, including an acral lentiginous melanoma. Conclusions This is the largest nevus-associated melanoma series molecularly evaluated to our knowledge. The majority of melanomas and adjacent nevi in our sample share the same mutational profile, corroborating the theory that the adjacent nevus and melanoma are clonally related and that melanoma originated within a nevus.Wiley2017201720152017info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersion20 p.application/pdfhttps://hdl.handle.net/2445/106731Articles publicats en revistes (Fonaments Clínics)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésVersió postprint del document publicat a: https://doi.org/10.1111/bjd.13829British Journal of Dermatology, 2015, vol. 173, num. 3, p. 671-680https://doi.org/10.1111/bjd.13829(c) British Association of Dermatologists, 2015info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1067312026-05-29T05:05:01Z
dc.title.none.fl_str_mv Mutational status of nevus-associated melanomas.
title Mutational status of nevus-associated melanomas.
spellingShingle Mutational status of nevus-associated melanomas.
Shitara, Danielle
Melanoma
Oncologia
Càncer
Mutació (Biologia)
Melanoma
Oncology
Cancer
Mutation (Biology)
title_short Mutational status of nevus-associated melanomas.
title_full Mutational status of nevus-associated melanomas.
title_fullStr Mutational status of nevus-associated melanomas.
title_full_unstemmed Mutational status of nevus-associated melanomas.
title_sort Mutational status of nevus-associated melanomas.
dc.creator.none.fl_str_mv Shitara, Danielle
Tell Martí, Gemma
Badenas Orquin, Celia
Enokihara, MM.
Alós i Hernández, Llúcia
Larque, A.B.
Michalany, Nilceo
Puig Butillé, Joan Anton
Carrera Álvarez, Cristina
Malvehy, J. (Josep)
Puig i Sardà, Susana
Bagatin, E.
author Shitara, Danielle
author_facet Shitara, Danielle
Tell Martí, Gemma
Badenas Orquin, Celia
Enokihara, MM.
Alós i Hernández, Llúcia
Larque, A.B.
Michalany, Nilceo
Puig Butillé, Joan Anton
Carrera Álvarez, Cristina
Malvehy, J. (Josep)
Puig i Sardà, Susana
Bagatin, E.
author_role author
author2 Tell Martí, Gemma
Badenas Orquin, Celia
Enokihara, MM.
Alós i Hernández, Llúcia
Larque, A.B.
Michalany, Nilceo
Puig Butillé, Joan Anton
Carrera Álvarez, Cristina
Malvehy, J. (Josep)
Puig i Sardà, Susana
Bagatin, E.
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Melanoma
Oncologia
Càncer
Mutació (Biologia)
Melanoma
Oncology
Cancer
Mutation (Biology)
topic Melanoma
Oncologia
Càncer
Mutació (Biologia)
Melanoma
Oncology
Cancer
Mutation (Biology)
description Introduction Melanoma origin has always been a debated subject, as well as the role of adjacent melanocytic nevi. Epidemiological and histopathological studies point to melanomas arising either de novo or from a nevus. Methods Sixty-one melanomas found in association with a preexisting nevus were microdissected, after careful selection of cell subpopulations and submitted to Sanger sequencing of the BRAF, NRAS, C-KIT, PPP6C, STK19 and RAC1 genes. Each gene was evaluated twice in all samples by sequencing or by sequencing and another confirmation method, allele-specific fluorescent polymerase chain reaction (PCR) and capillary electrophoresis detection, or by SNaPshot Analysis. Only mutations confirmed via two different molecular methods or twice by sequencing were considered positive. Results The majority of cases presented concordance of mutational status between melanoma and the associated nevus for all 6 genes (40/60; 66.7%). Nine cases presented concomitant BRAF and NRAS mutations, including one case, in which both the melanoma and the adjacent nevus harbored V600E and Q61K double mutations. In two cases, both melanoma and associated nevus, located on acral sites were BRAF mutated, including an acral lentiginous melanoma. Conclusions This is the largest nevus-associated melanoma series molecularly evaluated to our knowledge. The majority of melanomas and adjacent nevi in our sample share the same mutational profile, corroborating the theory that the adjacent nevus and melanoma are clonally related and that melanoma originated within a nevus.
publishDate 2015
dc.date.none.fl_str_mv 2015
2017
2017
2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/106731
url https://hdl.handle.net/2445/106731
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Versió postprint del document publicat a: https://doi.org/10.1111/bjd.13829
British Journal of Dermatology, 2015, vol. 173, num. 3, p. 671-680
https://doi.org/10.1111/bjd.13829
dc.rights.none.fl_str_mv (c) British Association of Dermatologists, 2015
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) British Association of Dermatologists, 2015
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 20 p.
application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv Articles publicats en revistes (Fonaments Clínics)
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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