Cargando…

A Unique Case of Intracranial Amelanotic Melanoma with BRAF V600E Mutation Successfully Treated via Molecular-targeted Therapy

Melanoma carries a high risk of brain metastasis. A small subset of metastatic melanomas, known as amelanotic melanomas, does not present black coloration, reflecting a lack of melanin pigmentation. Here, we report a case of B-Raf proto-oncogene (BRAF) V600E mutation associated with a metastatic bra...

Descripción completa

Detalles Bibliográficos
Autores principales: FUJITA, Juntaro, TOMITA, Yusuke, ICHIMURA, Koichi, YAMASAKI, Rie, NISHIGAKI, Shohei, NITTA, Yuki, INOUE, Yusuke, SOTOME, Yuta, KIDANI, Naoya, MURAOKA, Kenichiro, HIROTSUNE, Nobuyuki, NISHINO, Shigeki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japan Neurosurgical Society 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101700/
https://www.ncbi.nlm.nih.gov/pubmed/37065875
http://dx.doi.org/10.2176/jns-nmc.2022-0227
_version_ 1785025565056565248
author FUJITA, Juntaro
TOMITA, Yusuke
ICHIMURA, Koichi
YAMASAKI, Rie
NISHIGAKI, Shohei
NITTA, Yuki
INOUE, Yusuke
SOTOME, Yuta
KIDANI, Naoya
MURAOKA, Kenichiro
HIROTSUNE, Nobuyuki
NISHINO, Shigeki
author_facet FUJITA, Juntaro
TOMITA, Yusuke
ICHIMURA, Koichi
YAMASAKI, Rie
NISHIGAKI, Shohei
NITTA, Yuki
INOUE, Yusuke
SOTOME, Yuta
KIDANI, Naoya
MURAOKA, Kenichiro
HIROTSUNE, Nobuyuki
NISHINO, Shigeki
author_sort FUJITA, Juntaro
collection PubMed
description Melanoma carries a high risk of brain metastasis. A small subset of metastatic melanomas, known as amelanotic melanomas, does not present black coloration, reflecting a lack of melanin pigmentation. Here, we report a case of B-Raf proto-oncogene (BRAF) V600E mutation associated with a metastatic brain tumor caused by the amelanotic melanoma. A 60-year-old man was transferred to our department following acute onsets of left upper limb paralysis and convulsion. In the brain imaging, multiple lesions in the right frontal lobe and left basal ganglia were detected, and the presence of an enlarged left axillary lymph node was revealed. Consequently, we removed the right frontal lesion and performed a biopsy of the left axillary lymph node. Histological analysis of both specimens indicated an amelanotic melanoma, and genetic testing revealed a BRAF V600E mutation. The residual intracranial lesions were treated with stereotactic radiotherapy and molecular-targeted therapy, with dabrafenib and trametinib as the systemic treatment. Based on the Response Evaluation Criteria in Solid Tumors, we determined that the patient achieved complete remission (CR) under uninterrupted molecular-targeted therapy over a period of 10 months. After the temporary withdrawal of dabrafenib and trametinib to avoid hepatic dysfunction, a new intracranial lesion appeared. CR of this lesion was achieved following reinstatement of the two drugs. These results suggest that, under limited conditions, molecular-targeted therapy can produce a sustained response against the intracranial metastasis of melanoma, and the therapy with reduced dose is still effective against a recurrent case after cessation of the therapy due to the toxicity.
format Online
Article
Text
id pubmed-10101700
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher The Japan Neurosurgical Society
record_format MEDLINE/PubMed
spelling pubmed-101017002023-04-14 A Unique Case of Intracranial Amelanotic Melanoma with BRAF V600E Mutation Successfully Treated via Molecular-targeted Therapy FUJITA, Juntaro TOMITA, Yusuke ICHIMURA, Koichi YAMASAKI, Rie NISHIGAKI, Shohei NITTA, Yuki INOUE, Yusuke SOTOME, Yuta KIDANI, Naoya MURAOKA, Kenichiro HIROTSUNE, Nobuyuki NISHINO, Shigeki NMC Case Rep J Case Report Melanoma carries a high risk of brain metastasis. A small subset of metastatic melanomas, known as amelanotic melanomas, does not present black coloration, reflecting a lack of melanin pigmentation. Here, we report a case of B-Raf proto-oncogene (BRAF) V600E mutation associated with a metastatic brain tumor caused by the amelanotic melanoma. A 60-year-old man was transferred to our department following acute onsets of left upper limb paralysis and convulsion. In the brain imaging, multiple lesions in the right frontal lobe and left basal ganglia were detected, and the presence of an enlarged left axillary lymph node was revealed. Consequently, we removed the right frontal lesion and performed a biopsy of the left axillary lymph node. Histological analysis of both specimens indicated an amelanotic melanoma, and genetic testing revealed a BRAF V600E mutation. The residual intracranial lesions were treated with stereotactic radiotherapy and molecular-targeted therapy, with dabrafenib and trametinib as the systemic treatment. Based on the Response Evaluation Criteria in Solid Tumors, we determined that the patient achieved complete remission (CR) under uninterrupted molecular-targeted therapy over a period of 10 months. After the temporary withdrawal of dabrafenib and trametinib to avoid hepatic dysfunction, a new intracranial lesion appeared. CR of this lesion was achieved following reinstatement of the two drugs. These results suggest that, under limited conditions, molecular-targeted therapy can produce a sustained response against the intracranial metastasis of melanoma, and the therapy with reduced dose is still effective against a recurrent case after cessation of the therapy due to the toxicity. The Japan Neurosurgical Society 2023-03-24 /pmc/articles/PMC10101700/ /pubmed/37065875 http://dx.doi.org/10.2176/jns-nmc.2022-0227 Text en © 2023 The Japan Neurosurgical Society https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives International License.
spellingShingle Case Report
FUJITA, Juntaro
TOMITA, Yusuke
ICHIMURA, Koichi
YAMASAKI, Rie
NISHIGAKI, Shohei
NITTA, Yuki
INOUE, Yusuke
SOTOME, Yuta
KIDANI, Naoya
MURAOKA, Kenichiro
HIROTSUNE, Nobuyuki
NISHINO, Shigeki
A Unique Case of Intracranial Amelanotic Melanoma with BRAF V600E Mutation Successfully Treated via Molecular-targeted Therapy
title A Unique Case of Intracranial Amelanotic Melanoma with BRAF V600E Mutation Successfully Treated via Molecular-targeted Therapy
title_full A Unique Case of Intracranial Amelanotic Melanoma with BRAF V600E Mutation Successfully Treated via Molecular-targeted Therapy
title_fullStr A Unique Case of Intracranial Amelanotic Melanoma with BRAF V600E Mutation Successfully Treated via Molecular-targeted Therapy
title_full_unstemmed A Unique Case of Intracranial Amelanotic Melanoma with BRAF V600E Mutation Successfully Treated via Molecular-targeted Therapy
title_short A Unique Case of Intracranial Amelanotic Melanoma with BRAF V600E Mutation Successfully Treated via Molecular-targeted Therapy
title_sort unique case of intracranial amelanotic melanoma with braf v600e mutation successfully treated via molecular-targeted therapy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101700/
https://www.ncbi.nlm.nih.gov/pubmed/37065875
http://dx.doi.org/10.2176/jns-nmc.2022-0227
work_keys_str_mv AT fujitajuntaro auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT tomitayusuke auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT ichimurakoichi auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT yamasakirie auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT nishigakishohei auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT nittayuki auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT inoueyusuke auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT sotomeyuta auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT kidaninaoya auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT muraokakenichiro auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT hirotsunenobuyuki auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT nishinoshigeki auniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT fujitajuntaro uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT tomitayusuke uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT ichimurakoichi uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT yamasakirie uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT nishigakishohei uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT nittayuki uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT inoueyusuke uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT sotomeyuta uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT kidaninaoya uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT muraokakenichiro uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT hirotsunenobuyuki uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy
AT nishinoshigeki uniquecaseofintracranialamelanoticmelanomawithbrafv600emutationsuccessfullytreatedviamoleculartargetedtherapy