An updated literature on BRAF inhibitors (2018–2023)

Maji, Lalmohan; Teli, Ghanshyam; Raghavendra, Narasimha; Sengupta, Sindhuja; Pal, Rohit; Ghara, Abhishek; Matada, Gurubasavaraja Swamy Purawarga

doi:10.1007/s11030-023-10699-3

Cited by 4 publications

(4 citation statements)

References 106 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, due to the insertion of 2 extra amino acids, the original codon 600 (600V) in the A-loop of the kinase domain were converted into R, activating the regulation of signal transduction from RAS to MEK inside the cell. [26] Meanwhile, combined with the results of cytopathology, this nonclassical variant of BRAF might be associated with the malignancy of thyroid nodule and contribute to thyroid carcinomas.…”

Section: Discussionmentioning

confidence: 99%

Identification of a novel genomic variance of BRAF1 in papillary thyroid carcinoma: A case report

Wang,

Zhao,

Tan

et al. 2024

Medicine

View full text Add to dashboard Cite

Rationale: Papillary thyroid carcinoma (PTC), the predominant subtypes accounting for approximately 85% of thyroid carcinomas, has a rapidly increasing global incidence rate. Statistically, approximately 74.6% PTC patients had the genomic variants of BRAF, especially BRAFV600E mutation, which has been reported to stratify patients and guide clinic-therapies. However, some PTC patients may carry other nonclassical mutation patterns of BRAF, due to the complex of genomic instability. And the spectrum of BRAF mutation was not fully characterized. We reported a novel BRAF mutation pattern of PTC. Patient concerns: A 59-year-old woman was admitted to our hospital because of the slight enlargement of bilateral cervical lymph nodes in July 2023. Diagnosis: Ultrasonography revealed that the bilateral thyroid nodules of the patients both presented 1 hypoechoic nodule, which was graded as 3 of the elastic score, and the small calcification in the right lobe (Chinese-Thyroid Imaging Reporting and Data System 4c). Pathological diagnosis showed the interstitial collagen change and focal follicular epithelial papillary hyperplasia with atypical hyperplasia of the bilateral thyroid. Further puncture pathology showed that the patient had a malignant thyroid lesion with the phenotypes of papillary carcinoma and diagnosed with malignancy subsequently. Additionally, the patient harbored a novel insert on BRAF exon 15, a 6-base fragment AGACAG inserting between c.1798 and c.1799. Interventions: The patient was undergone on microwave ablation of thyroid carcinoma on July 28, 2023. After the surgery, the patient was treated on anti-infection, cold saline external application of bilateral thyroid swelling supportive treatment. Outcomes: No postoperative complications or recurrence and metastasis were found. Lessons: This is the first case of the novel nonclassical genomic variant of BRAF. Our study extends the spectrum of BRAF mutations. The patient had a favorable response to microwave ablation, indicating that in spite of the association between this mutation and high-grade malignant phenotype, this genomic variant of BRAF did not have a detrimental effect on the response of clinical treatment.

show abstract

Section: Discussionmentioning

confidence: 99%

Identification of a novel genomic variance of BRAF1 in papillary thyroid carcinoma: A case report

Wang,

Zhao,

Tan

et al. 2024

Medicine

View full text Add to dashboard Cite

show abstract

“…The BRAF gene belongs to a class of oncogenes. Most mutations occur in the 1799th nucleotide of exon 15, resulting in the replacement of valine with glutamic acid in the 600th codon of protein translation, which causes abnormal phosphorylation, activates the MAPK signaling pathway, regulates cell proliferation and differentiation, and promotes tumorigenesis and development [ 23 , 24 ]. Some studies have suggested that BRAF V600E mutations are associated with aggressive behavior and adverse prognosis, such as multiple carcinomas, lymphatic metastasis, membrane invasion, high TNM stage, and prognosis [ [25] , [26] , [27] , [28] ].…”

Section: Discussionmentioning

confidence: 99%

Correlation analysis between BRAFV600E mutation and ultrasonic and clinical features of papillary thyroid cancer

Wen,

Liu,

Lin

et al. 2024

Heliyon

View full text Add to dashboard Cite

“…This therapy may be represented by the association of dabrafenib and trametinib that improves the overall survival of patients at five years [ 47 ] or by pembrolizumab therapy that improves relapse-free survival in high-risk patients in stage III disease [ 48 ]. In an extensive follow-up examination involving adults who had not received prior treatment for metastatic melanoma and whose tumor tissue tested positive for V600 mutations, it was noted that BRAF inhibition with vemurafenib led to an improvement of survival rates [ 8 , 12 , 13 , 14 ]. Additionally, proactive management measures can effectively mitigate the impact of the adverse effects on patients, enabling continuous therapy despite its toxicity [ 49 ].…”

Section: Discussionmentioning

confidence: 99%

“…It was demonstrated that the most common mutation in cutaneous MM, identified in nearly half of these tumors, is the single-point mutation of v-raf murine sarcoma viral oncogene homolog B1 (BRAF) oncogene in the exon 15/codon 600 [ 5 , 6 ]. BRAF is a serine/threonine kinase belonging to the rapidly accelerated fibrosarcoma (RAF) family [ 5 , 6 , 7 , 8 ]. The substitution of valine by glutamic acid at codon 600 (V600E) leads to constitutive activation of the kinase enzymatic activity of BRAF protein and downstream mitogen-activated protein kinases (MAPK) pathway.…”

Section: Introductionmentioning

confidence: 99%

BRAF V600E Mutation in Malignant Melanoma—A Romanian Research Experience

Avădănei,

Căruntu,

Nucă

et al. 2024

Medicina

View full text Add to dashboard Cite

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.

show abstract

An updated literature on BRAF inhibitors (2018–2023)

Cited by 4 publications

References 106 publications

Identification of a novel genomic variance of BRAF1 in papillary thyroid carcinoma: A case report

Identification of a novel genomic variance of BRAF1 in papillary thyroid carcinoma: A case report

Correlation analysis between BRAFV600E mutation and ultrasonic and clinical features of papillary thyroid cancer

BRAF V600E Mutation in Malignant Melanoma—A Romanian Research Experience

Contact Info

Product

Resources

About