Treating malignant melanoma when a rare BRAF V600M mutation is present: case report and literature review

Popescu, Andrei; Haidar, Andrei; Anghel, Rodica

doi:10.1515/rjim-2017-0044

Cited by 10 publications

(7 citation statements)

References 12 publications

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“…Considering the current recommendations for the diagnosis and therapeutic management of MM patients [ 20 ], the major dilemma that arises is whether BRAF mutational testing maintains its value as a negative prognostic factor for primary MM. To the best of our knowledge, data on the association of BRAF mutation with MM are almost absent in Romania [ 50 , 51 , 52 ]. The major reason for this situation is the reduced access of patients to genetic investigations due to financial limitations, with repercussions in restricted options for targeted therapy.…”

Section: Discussionmentioning

confidence: 99%

BRAF V600E Mutation in Malignant Melanoma—A Romanian Research Experience

Avădănei,

Căruntu,

Nucă

et al. 2024

Medicina

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Background and Objectives: The most common mutation in malignant melanoma (MM) is the single-point mutation of v-raf murine sarcoma viral oncogene homolog B1 (BRAF) oncogene. Our study aims to evaluate BRAF V600E mutation, highlighting its frequency differences in primary versus metastatic MM. Materials and Methods: The study group comprised 133 patients diagnosed with MM in several county hospitals of the north-eastern region of Romania who have been assigned for investigation into BRAF V600E mutation in the private medical system. The material consisted of archived formalin-fixed paraffin-embedded (FFPE) blocks. BRAF V600E mutation was identified using the fully automated IdyllaTM BRAF mutation test system. Results: Out of the total of 133 cases, 78 cases were primary tumors, while 55 cases were metastatic MMs. Genetic analysis revealed the presence of BRAF V600E mutation in 66 cases (49.62%) and the wild-type genotype in 67 cases (50.37%). We found a statistically significant difference of the mutation frequency according to age (p = 0.0072). The mutated genotype was found in 45 cases out of 78 primary MMs (57.69%) and in 21 cases out of 55 secondary MMs (38.18%), with a statistically significant difference in favor of primary tumors (p = 0.0413). The correlations between the histopathological types, Clark’s level, Breslow index, ulceration, and lymphovascular invasion, respectively, and the mutated genotype were not statistically significant. BRAF V600E mutation was identified in 15 out of 40 secondary tumors with lymph node location (37.5%) and in 6 out of 15 secondary tumors with another location (40%) without statistically significant differences between the mutation frequency and the location of the secondary tumors. Conclusions: Our results support MM high genetic heterogeneity, pointing out the relationship between BRAF V600E mutation and several clinicopathological characteristics, in primary and metastatic MMs, stressing the importance of BRAF testing implementation in Romania.

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Section: Discussionmentioning

confidence: 99%

BRAF V600E Mutation in Malignant Melanoma—A Romanian Research Experience

Avădănei,

Căruntu,

Nucă

et al. 2024

Medicina

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“…Of these, exon 15 mutation V600 is accountable for nearly 90%. Moreover, BRAF mutation is regarded as a target for tyrosine kinase inhibitor intervention in signal transduction pathway therapy, with which signi cant progress has been made in the treatment of malignant melanoma [23]. Therefore, the 2019 CSCO Melanoma Diagnosis and Treatment Guidelines recommend the routine detection of BRAF mutations in malignant melanoma patients, improving the signi cance of subsequent treatment decisions.…”

Section: Discussionmentioning

confidence: 99%

Duodenal Malignant Melanoma：Primary and Metastatic

zhou,

Li,

Liu

et al. 2023

Preprint

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Background Duodenal malignant melanoma is rare, and its early clinical symptoms are insidious, making it difficult to diagnose in its early stages. Methods We explored the clinicopathological characteristics of duodenal malignant melanomas and association with BRAF mutations. Hematoxylin and eosin staining, immunohistochemical marker detection, and BRAF V600E mutation inspection via Sanger sequencing for two clinical cases of duodenal malignant melanoma were performed. The relevant literature was reviewed, and the clinical pathology was analyzed. Results The two patients (a 63-year-old female [Patient 1] and a 54-year-old male [Patient 2]) experienced pain and discomfort in their upper abdomen; moreover, they had endoscopic space-occupying lesions in the second part of their duodenum and invasively growing solid sheets of round, oval, or polygonal microscopic atypical tumor. Additionally, one of them had skin malignant melanoma and pigmentation, whereas the other was positive for BRAF V600E mutation. Tumor cell immunohistochemical analysis detected Vim, HMB45, Melan-A, and S-100 positive expression. They both underwent surgical treatment; however, Patients 1 and 2 died after 1 and 28 months, respectively. Conclusion Primary and metastatic cases should be diagnosed through previous medical history analysis and detailed physical and auxiliary examinations. This would enable a diagnosis based on characteristic histomorphology and immunohistochemical markers. An early diagnosis and surgical treatment can prolong patient survival and the molecular inspection of BRAF mutations can guide follow-up treatment.

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“…The Idylla TM BRAF Mutation Test allows the detection of the actionable BRAF V600E/ D/K/R/M mutations with a low amount of material and has good sensitivity, but is not able to make a distinction between them, which can be an obstacle to predicting the therapeutic response [58,59]. Another limitation is the impossibility of collecting DNA from the cartridge for further analysis, such as NGS.…”

Section: Discussionmentioning

confidence: 99%

Comparison of Two Rapid Assays for the Detection of BRAF V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes

et al. 2022

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Testing for the BRAF mutation is mandatory for the management of patients with locally advanced or metastatic melanoma. Molecular analysis based on DNA sequencing remains the gold-standard method for the screening of the different BRAF mutations. These methods must be rapid, sensitive, and specific enough to allow optimal therapeutic management in daily practice and also to include patients in clinical trials. Here, we compared the Idylla BRAF Mutation Test and the anti-BRAF V600E (clone VE1) immunohistochemistry (IHC) in 90 melanoma samples, with a focus on a challenging cohort of 32 positive sentinel lymph nodes. The BRAF status was assessed with both methods independently of the percentage of tumor cells. The concordance rate was calculated excluding both non-contributory analyses and BRAFV600K/R/M mutants due to the specific V600E-IHC test design. The incidence of the BRAFV600E mutation was 33% with both BRAF Idylla and BRAF IHC. The agreement rate was 91% (72/79). Although the agreement rate was high, we suggest that the use of IHC is more suitable for rapid BRAF testing on sentinel lymph node biopsies when associated with a low percentage and scattered tumor cells, which gave a high risk of non-contributory analysis and/or false negative results with the IdyllaTMBRAF Mutation Test.

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Treating malignant melanoma when a rare BRAF V600M mutation is present: case report and literature review

Cited by 10 publications

References 12 publications

BRAF V600E Mutation in Malignant Melanoma—A Romanian Research Experience

BRAF V600E Mutation in Malignant Melanoma—A Romanian Research Experience

Duodenal Malignant Melanoma：Primary and Metastatic

Comparison of Two Rapid Assays for the Detection of BRAF V600 Mutations in Metastatic Melanoma including Positive Sentinel Lymph Nodes

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