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

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

Publication date: Jan 01, 2019

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.

To assess BRAF mutation status in primary, recurrent, or metastatic MM and its correlations with histopathological findings.

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.

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.

Frequency of mutated BRAF is type-related and correlated with ulceration, a known adverse prognostic factor.

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Spathis, A., Katoulis, A.C., , Damaskou, Liakou, A.I., Kottaridi, C., Leventakou, D., Sgouros, D., Mamantopoulos, A., Rigopoulos, D., Karakitsos, P., and Panayiotides, I.G. BRAF Mutation Status in Primary, Recurrent, and Metastatic Malignant Melanoma and Its Relation to Histopathological Parameters. 22270. 2019 Dermatol Pract Concept (9):1.

Concepts Keywords
BRAF Uveal melanoma
Codon MEK inhibitor
Dermis V600E
Exon BRAF
Histopathological RTT
Intermediate Frequencies Tyrosine kinase inhibitors
Lentiginous Melanoma
Logistic Regression Cancer
Malignant Clinical medicine
Malignant Melanoma Medicine
Melanoma Ulcerated tumors
Metastases Site recurrences metastases
Metastatic Tumors
Mutation Primary dermal melanoma
Polymerase Chain Reaction Nonvisceral metastases
Pyrosequencing
Sequencing
Statistical Significance
Ulcerated
Ulceration

Semantics

Type Source Name
disease MESH ulcer
gene UNIPROT PTPN5
disease MESH nomas
drug DRUGBANK Coenzyme M
gene UNIPROT BABAM2
gene UNIPROT EXT2
gene UNIPROT NMS
gene UNIPROT FRZB
gene UNIPROT SET
gene UNIPROT DYRK3
gene UNIPROT IK
gene UNIPROT NRAS
gene UNIPROT HRAS
gene UNIPROT KRAS
gene UNIPROT GOPC
gene UNIPROT FBLIM1
gene UNIPROT NODAL
disease MESH tumorigenesis
disease MESH growth
disease DOID colorectal carcinoma
disease MESH colorectal carcinoma
disease MESH nevi
gene UNIPROT MAP2K7
gene UNIPROT EPHB2
gene UNIPROT MAPK1
drug DRUGBANK L-Valine
drug DRUGBANK Adenine
drug DRUGBANK Thymine
disease DOID skin cancer
disease MESH skin cancer
gene UNIPROT ELL
disease MESH men
gene UNIPROT KIT
gene UNIPROT F8
disease MESH diagnosis
drug DRUGBANK Formaldehyde
gene UNIPROT DNMT1
gene UNIPROT CD69
gene UNIPROT COL9A3
gene UNIPROT CD5L
gene UNIPROT COMP
gene UNIPROT COL9A1
gene UNIPROT COL9A2
gene UNIPROT SCN8A
gene UNIPROT STATH
gene UNIPROT PDC
pathway BSID Reproduction
drug DRUGBANK Bismuth subgallate
disease MESH lentigo maligna
drug DRUGBANK Methyprylon
disease MESH tumors
disease MESH metastases
disease MESH recurrences
pathway BSID Melanoma
disease DOID Malignant Melanoma
disease MESH Malignant Melanoma
gene UNIPROT BRAF

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