Analysis of the BRAF V600E mutation in primary cutaneous melanoma

Inumaru, J. S. S.; Gordo, K. I. F.; Junior, A. C. Fraga; Silva, Antônio Márcio Teodoro Cordeiro; Leal, Conceição; Ayres, Flávio Monteiro; Wastowski, Isabela Jubé; Borges, Natalie Ferreira; Saddi, Vera Aparecida

doi:10.4238/2014.january.22.8

Cited by 25 publications

(32 citation statements)

References 41 publications

(42 reference statements)

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“…Most studies have recapitulated the findings in this study where the age of the cohort of BRAF-mutated melanomas was younger statistically when compared with the BRAF wild-type melanomas [28][29][30][31][32]. However, other studies have not determined a correlation between BRAF-mutation status and age [5,33].…”

Section: Discussionsupporting

confidence: 61%

“…The v-raf murine sarcoma viral oncogene homolog B1 gene (BRAF) encodes a protein kinase that acts as mediator in the RAS-RAF-MEK-ERK pathway [3]. Approximately 30-72% of melanomas have been associated with a BRAF mutation in the V600 codon [4,5]. Most BRAF mutations occur as a missense mutation of a valine replaced by a glutamic acid at codon V600E in exon 15, which lies within the activation segment of the kinase domain disrupting the auto-inhibitory mechanism, resulting in the constitutive activation of the MAPK pathway and facilitating the acquisition of secondary genetic events in tumorigenesis [6,7].…”

Section: Introductionmentioning

confidence: 99%

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BRAF V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens

et al. 2018

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Melanomas are known as the great mimicker and must be considered in the differential diagnosis of any fine-needle aspirations (FNA). Despite recent advancements in understanding of the mutational landscape of melanomas, there still exists a divide between the genetic and morphologic correlates. A consecutive cohort of 39 FNA of clinically verified metastatic melanomas with concurrent BRAF V600 assessment were selected [positive (n = 18) and wild-type (n = 21)]. The melanoma cytology specimens were evaluated blinded to the BRAF mutation status in a dichotomized fashion for the presence of 8 selected morphologic classifiers. When comparing the BRAF-mutated vs. BRAF-wild type cohorts, the percentage of cases were, respectively: macronucleoli (56 and 52%), intranuclear inclusions (50 and 33%), pigment (44 and 24%), binucleation/multinucleation (78 and 57%), nuclear pleomorphism (72 and 67%), cytoplasmic vacuolization (22 and 29%), spindle cell morphology (61 and 29%), and necrosis (11 and 10%). The average age of the BRAF-mutated cohort was 52.2 years, compared to the BRAF wild-type cohort at 65.2 years. The prevalence of sex ratio and the location of the primary melanoma were matched between cohorts. Spindle cell morphology was more correlated with BRAF V600-mutated melanomas. Clinicians utilized the BRAF status to alter clinical decisions with use of BRAF inhibitors.

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Section: Discussionsupporting

confidence: 61%

Section: Introductionmentioning

confidence: 99%

BRAF V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens

et al. 2018

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“…Also, a study by Hughahl et al (22) revealed the association between higher rates of BRAF V600 immunohistochemistry expression and increased tumour thickness, presence of ulceration and higher rates of mitosis. Conversely, several papers have declared that the BRAF V600 mutation has no impact on clinicopathological features or survival (22)(23)(24)(25)(26). Although there was no significant correlation in the present study, the patients with the BRAF V600 mutation were younger than the patients with wild-type BRAF, and NM was detected more commonly in BRAF V600-mutated patients.…”

Section: Discussioncontrasting

confidence: 53%

Braf v600 mutation profile of metastatic melanoma in the thrace region of turkey

Can¹,

Taştekin²,

Yalta³

et al. 2018

TJPATH

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Objective: BRAF is the most common mutation in melanoma. The most common subtype is BRAF V600E, followed by V600K. Initially, the authors aimed to investigate whether clinicopathological features of melanoma are associated with BRAF mutations. We then aimed to present the relationships between the clinicopathological features and the mutated subtype (V600E vs V600K). Material and Method:61 patients with metastatic malignant melanoma (affecting the lymph node or other distant sites) were selected. Patient data regarding age at the time of diagnosis, sex, metastatic site (lymph node, distant metastasis or both) and primary tumour site were obtained from the hospital's database. Tissue samples containing at least 30% tumour cells were isolated from the specimens of 61 patients (24 samples from primary tumours and 37 from metastatic foci) for BRAF analysis. Comparisons between the BRAF V600 mutation and clinicopathological and histopathological features were performed.Results: BRAF V600 mutation was detected in 34 (55.7%) patients. The subtype was BRAF V600E in 22 (64.7%) patients, BRAF V600K in 11(32.4%) patients and BRAF V600R in 1(2.9%) patient. The crucial results of the present study may be summarized as follows: i) BRAF V600 mutation was more common in older patients and tumors with BRAF V600 mutation revealed necrosis and LVI more commonly than wild-type tumors, ii) BRAF V600K mutation was more common in older patients and BRAF V600K mutated tumors exhibited ulceration more commonly than tumors with BRAF V600E mutation (close to significant). Conclusion:The BRAF V600 mutation may have interactions with prognostic clinicoptahological features of melanoma including necrosis and lymphovascular invasion. V600K mutation may be more common than expected and may have different associations with properties of the tumor such as tumor ulceration and patient age. Investigation of the mutated subtype of the BRAF gene may therefore reveal more detailed data about the management of melanoma and may also prevent missing of candidates for BRAF inhibitor therapies.

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“…Many studies have investigated the association between BRAF mutation and clinicopathological features in melanoma (Akslen et al, ; Ellerhorst et al, ; Heppt et al, ; Hugdahl et al, ; Inumaru et al, ; Maldonado et al, ; Mann et al, ; Meckbach et al, ; Moreau et al, ; Picard et al, ; Shinozaki et al, ). Most of these studies concluded that BRAF mutation was in association with younger age at diagnosis (Heppt et al, ; Hugdahl et al, ; Meckbach et al, ), truncal lesion (Heppt et al, ; Hugdahl et al, ), and the superficially spreading melanoma histotype (Heppt et al, ; Meckbach et al, ), we agree with these findings.…”

Section: Discussionmentioning

confidence: 99%

“…Along with these findings, prognostic value of BRAF mutation in cutaneous melanomas has also been discussed and conflicting results ensued (Akslen et al, ; Ardekani et al, ; Edlunch‐Rose et al, ; Ellerhorst et al, ; Heppt et al, ; Hugdahl et al, ; Inumaru et al, ; Long et al, ; Maldonado et al, ; Mann et al, ; Meckbach et al, ; Menzies et al, ; Moreau et al, ; Picard et al, ; Shinozaki et al, ). We found that BRAF V600E mutation had favorable prognostic impact on both disease‐free and OS for both the entire cohort and the individual stages except the local disease (Stage I–II).…”

Section: Discussionmentioning

confidence: 99%

BRAF V600E mutation as a prognostic factor in cutaneous melanoma patients

Taş

Ertürk

2020

Dermatologic Therapy

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The prognostic significance of BRAF mutations in the natural course of melanoma is controversial. The aim of study was to assess the prognostic significance of BRAF V600E mutation in cutaneous melanoma patients. A total of 151 melanomas were included in the study. BRAF V600E mutation was detected using the real‐time PCR. BRAF V600E mutation rate was 51%. BRAF mutation rate was higher for young patients (61.4%) and upper limbs (63.2%), trunk (59.3%) and head and neck (59.2%) were the most frequently afflicted sites in BRAF‐mutant patients, whereas lower limbs were mostly affected in BRAF‐wild patients (77.8%). Likewise, acral melanomas rarely harbored BRAF mutation (17.1%). The disease‐free survivals regarding the entire and Stage III cohorts were longer in the BRAF‐mutant group than in the BRAF‐wild group (p = .006 and p = .004, respectively), whereas Stage I–II patients had no survival differences between BRAF statuses (p = .2). Likewise, BRAF‐mutant patients had better overall survival (OS) time compared to BRAF‐wild patients in all stages (p = .01), in Stage III (p = .01), and in Stage IV patients (p = .001). However, no differences between BRAF statuses were observed in Stage I–II melanomas (p = .3). In conclusion, BRAF V600E‐mutant melanomas show favorable prognostic impact on both disease‐free and OSs in all staged melanomas except local disease.

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Analysis of the BRAF V600E mutation in primary cutaneous melanoma

Cited by 25 publications

References 41 publications

<b><i>BRAF</i></b> V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens

<b><i>BRAF</i></b> V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens

Braf v600 mutation profile of metastatic melanoma in the thrace region of turkey

BRAF V600E mutation as a prognostic factor in cutaneous melanoma patients

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