BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters

Background: BRAF mutations are a common finding in malignant melanoma (MM). Nevertheless, apart from their significance as a therapeutic target in advanced melanoma, their prognostic value is still debated. Objective: To assess BRAF mutation status in primary, recurrent, or metastatic MM and its co...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Aris Spathis, Alexander C Katoulis, Vasileia Damaskou, Aikaterini I. Liakou, Christine Kottaridi, Danai Leventakou, Dimitrios Sgouros, Andreas Mamantopoulos, Dimitrios Rigopoulos, Petros Karakitsos, Ioannis G. Panayiotides
Formato: article
Lenguaje:EN
Publicado: Mattioli1885 2019
Materias:
Acceso en línea:https://doaj.org/article/8e09263f893b4a9ebb331dde7251d641
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:8e09263f893b4a9ebb331dde7251d641
record_format dspace
spelling oai:doaj.org-article:8e09263f893b4a9ebb331dde7251d6412021-11-17T08:29:49ZBRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters10.5826/dpc.0901a132160-9381https://doaj.org/article/8e09263f893b4a9ebb331dde7251d6412019-01-01T00:00:00Zhttp://dpcj.org/index.php/dpc/article/view/539https://doaj.org/toc/2160-9381 Background: BRAF mutations are a common finding in malignant melanoma (MM). Nevertheless, apart from their significance as a therapeutic target in advanced melanoma, their prognostic value is still debated. Objective: To assess BRAF mutation status in primary, recurrent, or metastatic MM and its correlations with histopathological findings. Methods: We analyzed 203 samples from 178 consecutive patients: 129 primary cutaneous MM, 49 metastatic and recurrent MM of unknown primary site, and 25 cases of recurrences or metastases of primary MM. BRAF mutations in exon 15 were identified with real-time polymerase chain reaction and/or direct sequencing or pyrosequencing. Histopathological examination was performed according to standard procedures. Results: We observed a 42.1% prevalence of BRAF mutations at codon 600 among our patients, 84% of whom harbored the V600E mutation. Mutations showed a statistically significant increase in younger patients (P = 0.011), in ulcerated tumors (P = 0.020), and in tumors lacking solar elastosis in adjacent dermis (P = 0.008). Mutations were also more common in male patients, as well as in primary MMs of the torso, and in nonvisceral metastases, however without reaching statistical significance. Logistic regression analysis identified type and ulceration as the only significant predictors of BRAF mutation. The highest frequencies of mutated BRAF were identified in superficial spreading and nodular types, and the lowest in acral lentiginous and lentigo maligna types. In situ MM and primary dermal melanoma displayed intermediate frequencies. Conclusion: Frequency of mutated BRAF is type-related and correlated with ulceration, a known adverse prognostic factor. Aris SpathisAlexander C KatoulisVasileia DamaskouAikaterini I. LiakouChristine KottaridiDanai LeventakouDimitrios SgourosAndreas MamantopoulosDimitrios RigopoulosPetros KarakitsosIoannis G. PanayiotidesMattioli1885articlemalignant melanomahistopathological featuresBRAF mutationsDermatologyRL1-803ENDermatology Practical & Conceptual, Vol 9, Iss 1 (2019)
institution DOAJ
collection DOAJ
language EN
topic malignant melanoma
histopathological features
BRAF mutations
Dermatology
RL1-803
spellingShingle malignant melanoma
histopathological features
BRAF mutations
Dermatology
RL1-803
Aris Spathis
Alexander C Katoulis
Vasileia Damaskou
Aikaterini I. Liakou
Christine Kottaridi
Danai Leventakou
Dimitrios Sgouros
Andreas Mamantopoulos
Dimitrios Rigopoulos
Petros Karakitsos
Ioannis G. Panayiotides
BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters
description Background: BRAF mutations are a common finding in malignant melanoma (MM). Nevertheless, apart from their significance as a therapeutic target in advanced melanoma, their prognostic value is still debated. Objective: To assess BRAF mutation status in primary, recurrent, or metastatic MM and its correlations with histopathological findings. Methods: We analyzed 203 samples from 178 consecutive patients: 129 primary cutaneous MM, 49 metastatic and recurrent MM of unknown primary site, and 25 cases of recurrences or metastases of primary MM. BRAF mutations in exon 15 were identified with real-time polymerase chain reaction and/or direct sequencing or pyrosequencing. Histopathological examination was performed according to standard procedures. Results: We observed a 42.1% prevalence of BRAF mutations at codon 600 among our patients, 84% of whom harbored the V600E mutation. Mutations showed a statistically significant increase in younger patients (P = 0.011), in ulcerated tumors (P = 0.020), and in tumors lacking solar elastosis in adjacent dermis (P = 0.008). Mutations were also more common in male patients, as well as in primary MMs of the torso, and in nonvisceral metastases, however without reaching statistical significance. Logistic regression analysis identified type and ulceration as the only significant predictors of BRAF mutation. The highest frequencies of mutated BRAF were identified in superficial spreading and nodular types, and the lowest in acral lentiginous and lentigo maligna types. In situ MM and primary dermal melanoma displayed intermediate frequencies. Conclusion: Frequency of mutated BRAF is type-related and correlated with ulceration, a known adverse prognostic factor.
format article
author Aris Spathis
Alexander C Katoulis
Vasileia Damaskou
Aikaterini I. Liakou
Christine Kottaridi
Danai Leventakou
Dimitrios Sgouros
Andreas Mamantopoulos
Dimitrios Rigopoulos
Petros Karakitsos
Ioannis G. Panayiotides
author_facet Aris Spathis
Alexander C Katoulis
Vasileia Damaskou
Aikaterini I. Liakou
Christine Kottaridi
Danai Leventakou
Dimitrios Sgouros
Andreas Mamantopoulos
Dimitrios Rigopoulos
Petros Karakitsos
Ioannis G. Panayiotides
author_sort Aris Spathis
title BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters
title_short BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters
title_full BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters
title_fullStr BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters
title_full_unstemmed BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters
title_sort braf mutation status in primary, recurrent, and metastatic malignant melanoma and its relation to histopathological parameters
publisher Mattioli1885
publishDate 2019
url https://doaj.org/article/8e09263f893b4a9ebb331dde7251d641
work_keys_str_mv AT arisspathis brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT alexanderckatoulis brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT vasileiadamaskou brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT aikateriniiliakou brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT christinekottaridi brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT danaileventakou brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT dimitriossgouros brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT andreasmamantopoulos brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT dimitriosrigopoulos brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT petroskarakitsos brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
AT ioannisgpanayiotides brafmutationstatusinprimaryrecurrentandmetastaticmalignantmelanomaanditsrelationtohistopathologicalparameters
_version_ 1718425750090022912