BRAF, NRAS and KIT sequencing analysis of spindle cell melanoma.
J Cutan Pathol
; 39(9): 821-5, 2012 Sep.
Article
em En
| MEDLINE
| ID: mdl-22809251
ABSTRACT
BACKGROUND:
Spindle cell melanoma represents a rare but distinct subset of melanoma, and its genomic spectrum has not been fully defined.METHODS:
We searched our institutional database for patients with a diagnosis of pure spindle cell-type melanoma whose tumors had been analyzed for BRAF, NRAS, and KIT mutations using pyrosequencing technique.RESULTS:
We identified 24 patients with spindle cell melanoma, including 10 patients with desmoplastic melanoma, whose tumors had been analyzed for at least one of the three genes. The median Breslow thickness was 2.6 mm, and the most common site of the primary melanoma was the trunk, followed by the head and neck region. BRAF, NRAS and KIT genomic sequencing was performed successfully in 20, 18 and 14 patients, respectively. Among the 20 melanomas with completed BRAF-sequencing analysis, 6 (30%) harbored a mutation, of which 5 (83%) had a V600E mutation and 1 (17%) had a V600R mutation. None of the melanomas harbored NRAS or KIT mutations.CONCLUSION:
As has been reported in other common types of melanoma, V600 BRAF mutation is the most common mutation of those tested in spindle cell melanoma. NRAS or KIT mutation appears to be rare, if not completely absent.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
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Proteína Oncogênica p21(ras)
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Proteínas Proto-Oncogênicas c-kit
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Proteínas Proto-Oncogênicas B-raf
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Neoplasias de Cabeça e Pescoço
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Melanoma
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Aged
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Aged80
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article