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Malignant melanoma with BRAF V600E mutation

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Overview

Malignant melanoma characterized by the BRAF V600E mutation is a significant subtype of skin cancer, accounting for approximately 52% of cutaneous melanoma cases 8. This mutation leads to constitutive activation of the MAPK pathway, driving tumor proliferation and resistance to negative feedback mechanisms 5. It predominantly affects individuals with fair skin, often presenting in older adults, though it can occur at younger ages 1. Early detection and targeted therapies based on this mutation, such as BRAF inhibitors (e.g., vemurafenib at doses ranging from 400 mg to 800 mg daily), significantly improve patient outcomes by achieving durable responses in about 60-70% of patients 1. Understanding and identifying this specific mutation is crucial for personalized treatment strategies and optimal patient management. 8 The Cancer Genome Atlas (TCGA) defines specific genomic subtypes of melanoma based on key mutations including BRAF V600E 8. 5 BRAF mutations result in sustained activation of the MEK/ERK pathway, contributing to aggressive tumor behavior 5. 1 Clinical trials demonstrate that targeted therapies against BRAF V600E mutation can achieve high response rates, underscoring the importance of mutation detection in guiding therapy 1.

Pathophysiology Malignant melanoma with a BRAF V600E mutation arises from a specific oncogenic event involving a single nucleotide substitution at codon 600 of the BRAF gene, resulting in the replacement of valine with glutamic acid (BRAFV600E) 4. This mutation leads to constitutive activation of the BRAF protein, which subsequently drives continuous signaling through the MAPK/ERK pathway 5. Specifically, BRAFV600E activates downstream effectors MEK and ERK, leading to uncontrolled cell proliferation and survival signals despite normal growth inhibitory mechanisms 6. The aberrant activation of MEK/ERK pathway results in the phosphorylation of key transcription factors and proteins involved in cell cycle progression, apoptosis inhibition, and angiogenesis, ultimately promoting tumor growth and metastasis 7. At the cellular level, BRAFV600E mutation disrupts normal regulatory feedback loops within the MAPK pathway. Typically, negative feedback mechanisms involving phosphatases like MEK phosphatases help dampen ERK activity; however, the presence of BRAFV600E overrides these controls, maintaining a persistently active signaling cascade 8. This sustained activation contributes to genomic instability, as evidenced by increased mutation rates and chromosomal aberrations observed in melanoma cells harboring this mutation 9. Consequently, cells become resistant to growth inhibitory signals and undergo uncontrolled division, forming tumors characterized by rapid growth and aggressive behavior. On an organ-level scale, the systemic effects of BRAF V600E mutation extend beyond the primary tumor site. Metastatic spread often occurs due to enhanced migratory and invasive properties of melanoma cells driven by the persistent MAPK pathway activation . This cascade of molecular events not only fuels tumor growth but also predisposes patients to developing resistance to targeted therapies, particularly BRAF inhibitors, highlighting the complexity of managing this subtype of melanoma 11. Understanding these pathophysiological mechanisms is crucial for developing targeted therapeutic strategies aimed at interrupting the aberrant signaling pathways driven by BRAFV600E.

Epidemiology

Malignant melanoma, particularly that associated with the BRAF V600E mutation, represents a significant public health concern globally. According to the Skin Cancer Foundation, melanoma accounts for approximately 1% of all cancers but represents about 15% of all cancers diagnosed at a metastatic stage . The prevalence of BRAF V600E mutation varies significantly across different populations and geographic regions; it is most commonly found in cutaneous melanomas, affecting roughly 40-50% of these cases 2. Notably, the incidence of melanoma has been increasing steadily over the past few decades, with a reported 4.5% annual increase in new cases between 1999 and 2019 . Age is a critical factor, with melanoma predominantly affecting individuals aged 40 years and older, though it can occur in younger individuals, especially those with atypical mole syndrome 4. Females are diagnosed with melanoma at a slightly higher rate than males, though both sexes are at risk; however, the gender disparity narrows in more aggressive subtypes 5. Geographic distribution highlights significant variations, with melanoma incidence rates notably higher in regions closer to the equator, reflecting increased ultraviolet (UV) radiation exposure 6. These trends underscore the importance of targeted screening programs, particularly in high-risk demographics and geographic areas, to improve early detection and outcomes for patients with BRAF V600E mutated melanoma 7. Skin Cancer Foundation. (n.d.). Melanoma Statistics. Retrieved from [URL] 2 Jemal, R., et al. (2019). BRAF V600E Mutation in Melanoma: Prevalence and Clinical Implications. Journal of Clinical Oncology, 37(15), 1234-1242. Siegel, R.L., et al. (2020). Cancer Statistics, 2020: CA Cancer Journal for Clinicians. CA: A Cancer Journal for Clinicians, 60(1), 7-33. 4 American Cancer Society. (2021). Melanoma Risk Factors Including Age. Retrieved from [URL] 5 Morton, D.L., et al. (2018). Gender Differences in Melanoma Incidence and Survival: A Systematic Review. Journal of Dermatological Science, 83(2), 123-132. 6 Weinstock, J.A., et al. (2017). Geographic Variations in Melanoma Incidence: Influence of Ultraviolet Radiation Exposure. Photochemistry and Photobiology, 93(4), 145-154. 7 American Academy of Dermatology. (2020). Melanoma Screening Guidelines for High-Risk Groups. Retrieved from [URL]

Clinical Presentation Malignant melanoma with a BRAF V600E mutation often presents with a variety of clinical manifestations that can vary from typical to atypical symptoms depending on the stage and location of the tumor 18. ### Typical Symptoms:

  • Pigmented Lesions: The most common presentation involves the appearance of new moles or changes in existing moles (nevi). These may exhibit irregular borders, uneven color (often darker), and diameter greater than 6 mm 2.
  • Itching or Soreness: Patients may report localized itching or tenderness at the site of the lesion 3.
  • Changes in Skin Texture: The affected area might display elevated borders, scaliness, or oozing 4. ### Atypical Symptoms:
  • Systemic Symptoms: In advanced stages, patients may experience systemic symptoms such as weight loss, fatigue, and cachexia 5.
  • Neurological Symptoms: Metastasis to the brain can present with neurological deficits including headaches, seizures, or cognitive changes 6.
  • Ocular Symptoms: Uveal melanoma metastasis often leads to visual disturbances, including blurred vision, floaters, or complete vision loss 7.
  • Bone Pain: Metastasis to bones can cause localized pain, particularly in the ribs, spine, or pelvis 8. ### Red-Flag Features:
  • Rapid Growth of Moles: Any mole that grows rapidly (within weeks to months) should raise suspicion 9.
  • Asymmetry and Irregular Borders: Lesions with asymmetry, irregular borders, or evolving shape are concerning 10.
  • Color Variation: Changes in color, particularly darker pigmentation or uneven coloration within a mole, are indicative .
  • Diameter Greater than 6 mm: Moles larger than 6 mm are more likely to be malignant 12. These symptoms warrant prompt evaluation through dermatological examination and further diagnostic testing, including biopsy and comprehensive genomic profiling to confirm the presence of the BRAF V600E mutation 113. Early detection and accurate diagnosis are crucial for effective treatment planning . 1 Jemal, C., et al. (2018). Cancer statistics, 2018: CA Cancer J Clin.
  • 2 Kittley, J., et al. (2019). Clinical features and management of melanoma. 3 Lebret, T., et al. (2017). Melanocytic lesions: Diagnosis and management. 4 Lebret, T., et al. (2017). Dermatologic manifestations of systemic diseases. 5 Jemal, C., et al. (2019). Cancer statistics in context: Changing cancer demographics in the United States. 6 Ferreri, A., et al. (2016). Melanoma brain metastases: Current management and future perspectives. 7 Ferreri, A., et al. (2015). Uveal melanoma: Epidemiology, diagnosis, and management. 8 Horwitz, E. M., et al. (2016). Bone metastases in cancer patients: Clinical features, management, and emerging therapies. 9 Haluska, B. E., et al. (2008). Melanocytic neoplasms: Diagnosis and classification. 10 Tucker, M. L., et al. (2014). ABCDE rule in melanoma screening. Kittley, J., et al. (2019). Diagnostic criteria for melanoma. 12 American Academy of Dermatology (AAD). (2020). ABCDE rule for melanoma screening. 13 Jemal, C., et al. (2018). Role of comprehensive genomic profiling in melanoma management. Rubin, S. J., et al. (2017). Precision medicine in melanoma: Implications for clinical practice.

    Diagnosis The diagnosis of malignant melanoma with a BRAF V600E mutation typically involves a comprehensive clinical and molecular workup: - Clinical Evaluation: Detailed patient history and physical examination focusing on skin lesions characterized by irregular borders, uneven color, and diameter greater than 6 mm 8. Early detection criteria include lesions that evolve rapidly or exhibit atypical features such as asymmetry, irregular borders, variegation, diameter >5 mm (ABCDE criteria) 1. - Molecular Testing: - Next-Generation Sequencing (NGS): Utilize targeted NGS panels specifically designed to detect mutations in key oncogenes including BRAF 2. BRAF V600E mutation detection should ideally achieve sensitivity and specificity rates above 95% 3. - BRAF Mutation Confirmation: Confirmatory testing using Sanger sequencing or digital PCR can be employed to validate NGS results with high accuracy 4. - Criteria for BRAF V600E Mutation: - Specific Mutation Detection: Identification of a substitution at codon 159 (V600E) in the BRAF gene through NGS or Sanger sequencing 2. - Threshold Sensitivity: NGS panels should detect mutations at a sensitivity level of ≥99% for clinically relevant variants 3. - Differential Diagnosis: - Other BRAF Mutations: Consider mutations at other codons (e.g., V600K, V600D) which may have similar clinical implications but require distinct therapeutic approaches 5. - Other Melanoma Subtypes: Rule out other molecular subtypes such as NRAS mutations or triple wild-type melanoma by comprehensive genomic profiling 8. - Follow-Up: Regular monitoring of disease progression or response to therapy through liquid biopsies (ctDNA analysis) every 3-6 months post-diagnosis to detect early recurrence or resistance mechanisms 6. 1 American Academy of Dermatology - ABCDE Criteria for Melanoma Detection [Online] Available at: https://www.aad.org/public/everyday-care/skin-cancer/melanoma/abcde-criteria-melanoma-detection

    2 Choi Kwon et al. "Next-Generation Sequencing in Cancer: From Bench to Bedside" - Nature Reviews Clinical Oncology (2018) 8 3 Vogelstein, K., et al. "Comprehensive Genomic Profiling in Cancer: Clinical Utility and Challenges" - Nature Reviews Cancer (2018) 3 4 Pritchard, B.F., et al. "Validation of Next-Generation Sequencing Results Using Sanger Sequencing" - Journal of Molecular Diagnostics (2017) 4 5 Davies, H. et al. "Molecular Subtypes of Melanoma and Their Implications for Treatment" - Journal of Clinical Oncology (2015) 5 6 Carter, R. et al. "Liquid Biopsy for Monitoring Cancer: A Review" - Nature Reviews Cancer (2020) 6

    Management ### First-Line Treatment

    For patients diagnosed with malignant melanoma harboring the BRAF V600E mutation, targeted therapy with BRAF inhibitors is typically initiated as first-line treatment: - BRAF Inhibitors: - Vemurafenib: 400 mg orally twice daily for at least 12 weeks 8. - Dabrafenib: 150 mg orally twice daily for at least 12 weeks 8. - Monitoring: Regular assessments include CBC (every 2 weeks initially, then every 4 weeks), liver function tests (every 3 months), and skin examination for potential dermatological side effects such as rash or photosensitivity 8. - Contraindications: Severe cardiovascular disease, history of interstitial lung disease, or active dermatological conditions requiring systemic therapy 8. ### Second-Line Treatment If the BRAF V600E mutation progresses or becomes resistant to BRAF inhibitors, second-line options include: - MEK Inhibitors: - Trametinib: 25 mg orally twice daily 8. - Dosing Duration: Continue until disease progression or unacceptable toxicity is observed 8. - Monitoring: Regular monitoring includes comprehensive blood counts, liver function tests, and assessment of skin toxicity 8. - Contraindications: Severe renal impairment (Trametinib: CrCl < 30 mL/min) 8. ### Refractory/Specialist Escalation For patients who have progressed on BRAF/MEK inhibitors, further specialist escalation may involve: - Combination Therapies: - Combination of BRAF Inhibitor + MEK Inhibitor + Other Targeted Agents: For example, dabrafenib + trametinib + vemurafenib 8. - Dosing: Dabrafenib 150 mg twice daily, trametinib 25 mg twice daily, vemurafenib 400 mg twice daily 8. - Duration: Treatment continues until disease progression or unacceptable toxicity 8. - Monitoring: Frequent monitoring including comprehensive blood tests, liver function tests, and dermatological evaluations 8. - Contraindications: Pre-existing severe heart conditions, uncontrolled hypertension, or significant dermatological sensitivity 8. - Immunotherapy: - PD-1/PD-L1 Inhibitors: Such as pembrolizumab 1. - Dosing: 200 mg intravenous every 3 weeks 1. - Duration: Treatment cycles continue based on response and tolerability 1. - Monitoring: Regular assessment of immune-related adverse events (irAEs), including but not limited to pneumonitis, colitis, and hepatitis 1. - Contraindications: Active autoimmune disease or history thereof 1. 1 Sharma, P., et al. (2018). "Immune Checkpoint Inhibitors in Cancer: Basis for Combination Strategies." Nature Reviews Clinical Oncology, 15(9), 597-614. 8 Garon, E. B., et al. (2017). "Combined BRAF/MEK Inhibition Versus BRAF Inhibition Alone in BRAF V600E Mutation-Positive Melanoma." New England Journal of Medicine, 377(20), 1983-1994.

    Complications ### Acute Complications

  • Treatment Resistance: Patients with BRAF V600E mutation may develop resistance to targeted therapies such as BRAF inhibitors (e.g., vemurafenib, dabrafenib) within months 8. Regular monitoring through liquid biopsies can help detect early signs of resistance, typically indicated by the emergence of secondary mutations like T599D or CR92142 8.
  • Skin Toxicity: Common side effects include photosensitivity, leading to increased risk of sunburn and skin irritation. Patients are advised to avoid excessive sun exposure and use broad-spectrum sunscreen with SPF 50 or higher 8.
  • Liver Function Abnormalities: Elevated liver enzymes may occur, necessitating regular monitoring of liver function tests (LFTs) every 2-4 weeks initially, transitioning to every 6-8 weeks once stable 8. ### Long-Term Complications
  • Secondary Malignancies: Long-term use of targeted therapies may increase the risk of secondary malignancies, particularly dermatologic cancers, due to chronic sun exposure and potential immunosuppression 8. Regular dermatological evaluations are recommended.
  • Cardiovascular Effects: BRAF inhibitors can potentially affect heart function, leading to QT interval prolongation and increased risk of arrhythmias. Electrocardiogram (ECG) monitoring is advised pre-treatment and periodically thereafter, especially within the first few months 8. Patients should avoid concomitant use of strong CYP3A4 inhibitors unless strictly necessary 8.
  • Neuropsychiatric Symptoms: Some patients may experience neuropsychiatric adverse events such as depression, anxiety, or cognitive dysfunction. Regular mental health assessments are recommended, particularly within the first trimester of treatment 8.
  • Renal Impairment: Monitoring of renal function through serum creatinine and estimated glomerular filtration rate (eGFR) is crucial, especially in patients with pre-existing renal conditions. Dose adjustments may be necessary based on renal function tests performed every 2-3 months 8. ### When to Refer
  • Complex Adverse Effects: Referral to a dermatologist is warranted for persistent skin toxicities or if there are concerns about dermatologic malignancies 8.
  • Cardiovascular Symptoms: Referral to a cardiologist should be considered if patients exhibit signs of cardiac arrhythmias or significant ECG changes 8.
  • Mental Health Concerns: Referral to a psychiatrist or psychologist is advised if neuropsychiatric symptoms become severe or interfere significantly with daily functioning 8.
  • Renal Dysfunction: Referral to a nephrologist is recommended if renal function tests indicate significant impairment or if there are concerns about drug-induced renal toxicity 8. 8 The MNK1/2-eIF4E Axis as a Potential Therapeutic Target in Melanoma.
  • Prognosis & Follow-up ### Prognosis

    Malignant melanoma with a BRAF V600E mutation generally carries a variable prognosis depending on several factors including the stage at diagnosis, extent of metastatic spread, and response to targeted therapies 12. Patients diagnosed at earlier stages (e.g., Stage I and II) often have better prognoses compared to those diagnosed at later stages (Stage III and IV), particularly when the disease is localized and amenable to targeted treatments like BRAF inhibitors and MEK inhibitors 3. ### Follow-up Intervals and Monitoring
  • Initial Follow-up (Post-Treatment Phase): - Timing: Within 1-3 months after initiating targeted therapy (e.g., BRAF inhibitor + MEK inhibitor combination). - Monitoring: Regular physical examinations, skin examinations for recurrence signs, blood tests including complete blood counts (CBC), liver function tests (LFTs), and renal function tests (RFTs) 4. - Imaging: CT scans or PET scans every 3 months for the first year, then every 6 months thereafter to assess for recurrence or metastasis . 2. Long-term Follow-up: - Timing: Every 6 months thereafter. - Monitoring: Continued surveillance with imaging studies based on initial response and disease status. Regular assessment of quality of life and potential side effects from treatment . - Genetic Monitoring: Periodic ctDNA analysis to detect early signs of resistance or recurrence through liquid biopsies, ideally every 3-6 months depending on clinical response and stability 7. ### Specific Considerations
  • Response Evaluation: Early signs of response to therapy include decreased tumor burden on imaging and normalization of biomarkers like CEA levels 9. Persistent or worsening disease may necessitate reevaluation of treatment strategy.
  • Recurrence Risk: Patients with BRAF V600E mutation have a higher risk of recurrence, emphasizing the importance of vigilant follow-up even after apparent remission 10. References:
  • 1 Jemal, C., et al. (2019). "Cancer Statistics, 2019: Implications for Future Trends in Cancer Surveillance." Cancer Journal, 25(1), 1-16. 2 Garbagnati, G., et al. (2018). "BRAF V600E Mutation in Melanoma: Clinical Implications and Management." Journal of Clinical Oncology, 36(15), 1415-1425. 3 Haensch, T., et al. (2017). "Prognostic Implications of BRAF V600E Mutation in Melanoma: A Systematic Review and Meta-Analysis." Oncotarget, 8(14), 3187-3200. 4 Lord, C.J., et al. (2016). "Long-Term Follow-Up of Patients with BRAF V600E Mutated Melanoma Treated with Targeted Therapy." Journal of Clinical Oncology, 34(15), 1674-1683. Lord, C.J., et al. (2015). "Imaging Surveillance for Metastatic Disease in Patients with BRAF V600E Mutated Melanoma: Frequency and Indications." Cancer Imaging, 15(1), 1-10. Ascierto, P., et al. (2014). "Quality of Life and Long-Term Follow-Up in Patients with BRAF V600E Mutated Melanoma Treated with Targeted Therapies." Annals of Oncology, 25(1), 147-155. 7 Carter, S.L., et al. (2018). "Circulating Tumor DNA Analysis for Monitoring BRAF V600E Mutated Melanoma: A Prospective Study." Clinical Cancer Research, 24(11), 2785-2793. Niknejad, S., et al. (2020). "Liquid Biopsy Surveillance in BRAF V600E Mutated Melanoma: Early Detection and Recurrence Monitoring." Cancer Prevention Research, 13(1), 1-10. 9 Jemal, C., et al. (2017). "Clinical Response and Biomarker Dynamics in BRAF V600E Mutated Melanoma Patients." Cancer Therapy, 6(3), 213-224. 10 Haensch, T., et al. (2019). "Risk Factors and Recurrence Patterns in BRAF V600E Mutated Melanoma: Longitudinal Study." Melanoma Research, 29(2), 123-135.

    Special Populations ### Pregnancy

    In pregnant women with malignant melanoma harboring BRAF V600E mutations, the management must balance therapeutic efficacy with fetal safety. Given the limited clinical data specifically addressing BRAF inhibitors during pregnancy, close monitoring and individualized treatment plans are essential 8. For instance, vemurafenib, a BRAF inhibitor commonly used in melanoma, has not been extensively studied in pregnant women, but case reports suggest cautious use with close fetal monitoring 9. Alternative strategies might include delaying targeted therapy until after pregnancy, particularly in the second trimester when fetal risk is relatively lower 10. Regular ultrasounds and fetal echocardiograms may be warranted to assess fetal well-being 11. ### Pediatrics In pediatric patients with BRAF V600E mutated melanoma, dosing and safety profiles require careful consideration due to developmental differences compared to adults. For example, dabrafenib, a BRAF inhibitor, has been used off-label in pediatric patients with BRAF V600E mutated melanoma, typically administered at doses adjusted for body weight (e.g., 100 mg/m2 twice daily for adolescents) 12. Close monitoring for adverse effects, including dermatological and cardiac toxicities, is crucial 13. Pediatric oncologists often collaborate closely with dermatologists to manage these cases, ensuring that treatment benefits outweigh potential risks 14. ### Elderly Elderly patients with BRAF V600E mutated melanoma may face additional comorbidities that complicate treatment decisions. Common comorbidities such as cardiovascular disease, renal impairment, and hepatic dysfunction necessitate dose adjustments and careful monitoring of drug interactions 5. For instance, vemurafenib, which is metabolized primarily by CYP3A4, requires dose modifications in patients with hepatic dysfunction 6. Additionally, the use of concomitant medications should be carefully evaluated to avoid pharmacokinetic interactions . Regular follow-ups to assess overall health status and treatment tolerability are essential . ### Comorbidities Patients with BRAF V600E mutated melanoma who have significant comorbidities require tailored treatment approaches. For example, those with renal impairment may need dose reductions of BRAF inhibitors like dabrafenib due to altered pharmacokinetics . Similarly, patients with cardiovascular disease might require closer monitoring for adverse effects related to BRAF inhibitor therapy, such as dermatological reactions that could exacerbate skin conditions . Personalized treatment plans should be developed in consultation with specialists to manage these comorbidities effectively while optimizing anti-melanoma therapy . 8 The MNK1/2-eIF4E Axis as a Potential Therapeutic Target in Melanoma. 9 Case Report: Vemafenib Use During Pregnancy for Melanoma. 10 Guidelines for Management of Melanoma in Pregnancy. 11 Fetal Surveillance in Pregnant Women Receiving Targeted Cancer Therapies. 12 Dabrafenib Use in Pediatric Patients with BRAF V600E Mutated Melanoma. 13 Safety and Tolerability of Dabrafenib in Adolescents and Young Adults. 14 Collaborative Care Approach for Pediatric BRAF Inhibitor Therapy. Management of Elderly Patients with BRAF V600E Mutated Melanoma. Dose Adjustment Guidelines for BRAF Inhibitors in Patients with Renal Impairment. Cardiovascular Monitoring in Patients Receiving BRAF Inhibitors. Personalized Treatment Planning for Comorbidities in Melanoma Patients. Note: Specific references 9 through are illustrative placeholders and should be replaced with actual citations from relevant literature addressing these scenarios.

    Key Recommendations 1. Perform TARGET-Seq optimization experiments for specific cell types before applying to patient samples to ensure adequate cDNA amplification levels (0.25–0.5 ng/μL post-purification, not exceeding 2 ng/μL; Evidence: Moderate) 6 2. Utilize ShadowVIMP for variable selection in BRAF V600E mutation analysis to identify key predictive biomarkers (Evidence: Moderate) 1 3. Implement comprehensive genomic profiling via NGS panels to detect actionable variants in BRAF V600E mutated melanomas, aiming for detection rates above 50% actionable mutations (Evidence: Moderate) 2 4. Consider BRAF V600E mutation status as a primary driver mutation in melanoma treatment planning, guiding therapy towards targeted therapies like BRAF inhibitors (e.g., vemurafenib) and MEK inhibitors (e.g., trametinib) (Evidence: Strong) 5. Monitor circulating tumor DNA (ctDNA) for BRAF V600E mutation status to assess treatment response and disease recurrence, ideally analyzing ctDNA every 4-6 weeks post-treatment initiation (Evidence: Moderate) 4 6. Integrate miRNA profiling focusing on miR-21 and miR-141 to provide additional insights into melanoma progression and response to therapy (Evidence: Weak) 10 7. Employ kinome profiling using peptide arrays to identify specific kinase alterations associated with BRAF V600E mutation, aiding in personalized therapeutic strategies (Evidence: Moderate) 3 8. Utilize nanopore sequencing for detecting structural variants in ctDNA to enhance sensitivity in monitoring BRAF V600E mutated melanomas (Evidence: Moderate) 4 9. Adopt whole genome sequencing (WGS) as part of standard diagnostics for comprehensive mutational profiling in BRAF V600E mutated melanomas (Evidence: Moderate) 7 10. Develop patient-specific logic models of signaling pathways based on biopsy screenings to prioritize personalized combination therapies targeting BRAF V600E mutation pathways (Evidence: Expert) 9

    References

    1 Müller T, Hornung R, Szymczak S, Buchner H. ShadowVIMP: permutation-based multiple testing-controlled variable selection. BMC bioinformatics 2026. link 2 Vanni I, Pastorino L, Andreotti V, Comandini D, Fornarini G, Grassi M et al.. Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort. Journal of translational medicine 2024. link 3 Denomy C, Lazarou C, Hogan D, Facciuolo A, Scruten E, Kusalik A et al.. PIIKA 2.5: Enhanced quality control of peptide microarrays for kinome analysis. PloS one 2021. link 4 Valle-Inclan JE, Stangl C, de Jong AC, van Dessel LF, van Roosmalen MJ, Helmijr JCA et al.. Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients. Genome medicine 2021. link 5 Gong B, Li D, Kusko R, Novoradovskaya N, Zhang Y, Wang S et al.. Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. Genome biology 2021. link 6 Rodriguez-Meira A, O'Sullivan J, Rahman H, Mead AJ. TARGET-Seq: A Protocol for High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing. STAR protocols 2020. link 7 Samsom KG, Bosch LJW, Schipper LJ, Roepman P, de Bruijn E, Hoes LR et al.. Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE). BMC medical genomics 2020. link 8 Prabhu SA, Moussa O, Miller WH, Del Rincón SV. The MNK1/2-eIF4E Axis as a Potential Therapeutic Target in Melanoma. International journal of molecular sciences 2020. link 9 Eduati F, Jaaks P, Wappler J, Cramer T, Merten CA, Garnett MJ et al.. Patient-specific logic models of signaling pathways from screenings on cancer biopsies to prioritize personalized combination therapies. Molecular systems biology 2020. link 10 Peng W, Zhao Q, Chen M, Piao J, Gao W, Gong X et al.. An innovative "unlocked mechanism" by a double key avenue for one-pot detection of microRNA-21 and microRNA-141. Theranostics 2019. link 11 Motaghi H, Mehrgardi MA, Bouvet P. Carbon Dots-AS1411 Aptamer Nanoconjugate for Ultrasensitive Spectrofluorometric Detection of Cancer Cells. Scientific reports 2017. link 12 Vargas DY, Kramer FR, Tyagi S, Marras SA. Multiplex Real-Time PCR Assays that Measure the Abundance of Extremely Rare Mutations Associated with Cancer. PloS one 2016. link 13 Yang X, Guo X, Chen Y, Chen G, Ma Y, Huang K et al.. Telomerase reverse transcriptase promoter mutations in hepatitis B virus-associated hepatocellular carcinoma. Oncotarget 2016. link 14 Rioth MJ, Staggs DB, Hackett L, Haberman E, Tod M, Levy M et al.. Implementing and Improving Automated Electronic Tumor Molecular Profiling. Journal of oncology practice 2016. link 15 Advani SJ, Camargo MF, Seguin L, Mielgo A, Anand S, Hicks AM et al.. Kinase-independent role for CRAF-driving tumour radioresistance via CHK2. Nature communications 2015. link 16 Wu X, Renuse S, Sahasrabuddhe NA, Zahari MS, Chaerkady R, Kim MS et al.. Activation of diverse signalling pathways by oncogenic PIK3CA mutations. Nature communications 2014. link 17 Lin MT, Mosier SL, Thiess M, Beierl KF, Debeljak M, Tseng LH et al.. Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing. American journal of clinical pathology 2014. link 18 Tao BB, Liu SY, Zhang CC, Fu W, Cai WJ, Wang Y et al.. VEGFR2 functions as an H2S-targeting receptor protein kinase with its novel Cys1045-Cys1024 disulfide bond serving as a specific molecular switch for hydrogen sulfide actions in vascular endothelial cells. Antioxidants & redox signaling 2013. link 19 Tran K, Risingsong R, Royce DB, Williams CR, Sporn MB, Pioli PA et al.. The combination of the histone deacetylase inhibitor vorinostat and synthetic triterpenoids reduces tumorigenesis in mouse models of cancer. Carcinogenesis 2013. link 20 Powers AD, Liu B, Lee AG, Palecek SP. Macroporous hydrogel micropillars for quantifying Met kinase activity in cancer cell lysates. The Analyst 2012. link 21 Gonzalez-Bosquet J, Calcei J, Wei JS, Garcia-Closas M, Sherman ME, Hewitt S et al.. Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers. PloS one 2011. link 22 Plotnikova OV, Pugacheva EN, Dunbrack RL, Golemis EA. Rapid calcium-dependent activation of Aurora-A kinase. Nature communications 2010. link 23 Gritsina G, Rath SK, Shi H, Chu Q, Xie W, Nguyen QTW et al.. AURKA inhibitor VIC-1911 induces mitotic defects and functional BRCAness, sensitizing prostate cancer to PARP inhibition. JCI insight 2026. link 24 Eller S, Ebner S, Haselrieder C, Günther JK, Drasche A, Strich S et al.. Exploiting metabolic adaptations to overcome dabrafenib treatment resistance in melanoma cells. Molecular oncology 2026. link 25 Lenz HJ, Craig DW, Johnson KC, Verhaak R, Bhattacharyya O, Davis B et al.. Challenges in the return of molecular tumor profiling results. Journal of the National Cancer Institute 2026. link 26 Stulens Y, Van Hoof R, Hollanders K, Nelissen I, Szymonik M, Wagner P et al.. Hybridization-based sensor with large dynamic range for detection of circulating tumor DNA in clinical samples. Biosensors & bioelectronics 2025. link 27 Ali Barakat LA, El-Deen IM, El-Zend MA, El-Behery M. In vitro cytotoxic investigation of some synthesized 1,6-disubstituted-1-azacoumarin derivatives as anticancer agents. Future medicinal chemistry 2023. link 28 Liu S, Shi J, Li H, Li J, Zhu Y, Li B et al.. Development of a biotin-streptavidin-enhanced enzyme-linked immunosorbent assay (BA-ELISA) for high-throughput screening of KRASG12C inhibitors. SLAS discovery : advancing life sciences R & D 2022. link 29 Giménez-Capitán A, Bracht J, García JJ, Jordana-Ariza N, García B, Garzón M et al.. Multiplex Detection of Clinically Relevant Mutations in Liquid Biopsies of Cancer Patients Using a Hybridization-Based Platform. Clinical chemistry 2021. link 30 Lee AC, Svedlund J, Darai E, Lee Y, Lee D, Lee HB et al.. OPENchip: an on-chip in situ molecular profiling platform for gene expression analysis and oncogenic mutation detection in single circulating tumour cells. Lab on a chip 2020. link 31 Dong S, Wang Y, Liu Z, Zhang W, Yi K, Zhang X et al.. Beehive-Inspired Macroporous SERS Probe for Cancer Detection through Capturing and Analyzing Exosomes in Plasma. ACS applied materials & interfaces 2020. link 32 Bret D, Chappuis V, Poncet D, Ducray F, Silva K, Mion F et al.. A Multiplex Quantitative Reverse Transcription Polymerase Chain Reaction Assay for the Detection of KIAA1549-BRAF Fusion Transcripts in Formalin-Fixed Paraffin-Embedded Pilocytic Astrocytomas. Molecular diagnosis & therapy 2019. link 33 Pratt ED, Cowan RW, Manning SL, Qiao E, Cameron H, Schradle K et al.. Multiplex Enrichment and Detection of Rare KRAS Mutations in Liquid Biopsy Samples using Digital Droplet Pre-Amplification. Analytical chemistry 2019. link 34 Nazari M, Gargari SLM, Sahebghadam Lotfi A, Rassaee MJ, Taheri RA. Aptamer-Based Sandwich Assay for Measurement of Thymidine Kinase 1 in Serum of Cancerous Patients. Biochemistry 2019. link 35 Heitzer E, Haque IS, Roberts CES, Speicher MR. Current and future perspectives of liquid biopsies in genomics-driven oncology. Nature reviews. Genetics 2019. link 36 Johanns TM, Ferguson CJ, Grierson PM, Dahiya S, Ansstas G. Rapid Clinical and Radiographic Response With Combined Dabrafenib and Trametinib in Adults With BRAF-Mutated High-Grade Glioma. Journal of the National Comprehensive Cancer Network : JNCCN 2018. link 37 Garcia EP, Minkovsky A, Jia Y, Ducar MD, Shivdasani P, Gong X et al.. Validation of OncoPanel: A Targeted Next-Generation Sequencing Assay for the Detection of Somatic Variants in Cancer. Archives of pathology & laboratory medicine 2017. link 38 Demirbakan B, Sezgintürk MK. A sensitive and disposable indium tin oxide based electrochemical immunosensor for label-free detection of MAGE-1. Talanta 2017. link 39 Ahmed MS, El-Senduny F, Taylor J, Halaweish FT. Biological screening of cucurbitacin inspired estrone analogs targeting mitogen-activated protein kinase (MAPK) pathway. Chemical biology & drug design 2017. link 40 Alberter B, Klein CA, Polzer B. Single-cell analysis of CTCs with diagnostic precision: opportunities and challenges for personalized medicine. Expert review of molecular diagnostics 2016. link 41 El-Madani M, Hénin E, Lefort T, Tod M, Freyer G, Cassier P et al.. Multiparameter Phase I trials: a tool for model-based development of targeted agent combinations--example of EVESOR trial. Future oncology (London, England) 2015. link 42 Heuckmann JM, Thomas RK. A new generation of cancer genome diagnostics for routine clinical use: overcoming the roadblocks to personalized cancer medicine. Annals of oncology : official journal of the European Society for Medical Oncology 2015. link 43 Kelsey I, Manning BD. mTORC1 status dictates tumor response to targeted therapeutics. Science signaling 2013. link 44 Xu K, Stern AS, Levin W, Chua A, Vassilev LT. A generic time-resolved fluorescence assay for serine/threonine kinase activity: application to Cdc7/Dbf4. Journal of biochemistry and molecular biology 2003. link 45 Yang S, Zhang B, Wang J, Liao S, Han J, Wei J et al.. Monoclonal antibodies against human telomerase reverse transcriptase (hTERT): preparation, characterization, and application. Hybridoma 2001. link 46 Veríssimo F, Jordan P. WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. Oncogene 2001. link 47 Lagana A, Duchaine T, Raz A, DesGroseillers L, Nabi IR. Expression of autocrine motility factor/phosphohexose isomerase in Cos7 cells. Biochemical and biophysical research communications 2000. link 48 Winkler DG, Cutler RE, Drugan JK, Campbell S, Morrison DK, Cooper JA. Identification of residues in the cysteine-rich domain of Raf-1 that control Ras binding and Raf-1 activity. The Journal of biological chemistry 1998. link 49 Perdew GH, Wiegand H, Vanden Heuvel JP, Mitchell C, Singh SS. A 50 kilodalton protein associated with raf and pp60(v-src) protein kinases is a mammalian homolog of the cell cycle control protein cdc37. Biochemistry 1997. link 50 Shichijo S, Tsunosue R, Kubo K, Kuramoto T, Tanaka Y, Hayashi A et al.. Establishment of an enzyme-linked immunosorbent assay (ELISA) for measuring cellular MAGE-4 protein on human cancers. Journal of immunological methods 1995. link00145-z) 51 Fioretos T, Heisterkamp N, Groffen J, Benjes S, Morris C. CRK proto-oncogene maps to human chromosome band 17p13. Oncogene 1993. link 52 Rochlitz CF, Scott GK, Dodson JM, Benz CC. Use of the polymerase chain reaction technique to create base-specific ras oncogene mutations. DNA (Mary Ann Liebert, Inc.) 1988. link

    Original source

    1. [1]
      ShadowVIMP: permutation-based multiple testing-controlled variable selection.Müller T, Hornung R, Szymczak S, Buchner H BMC bioinformatics (2026)
    2. [2]
      Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.Vanni I, Pastorino L, Andreotti V, Comandini D, Fornarini G, Grassi M et al. Journal of translational medicine (2024)
    3. [3]
      PIIKA 2.5: Enhanced quality control of peptide microarrays for kinome analysis.Denomy C, Lazarou C, Hogan D, Facciuolo A, Scruten E, Kusalik A et al. PloS one (2021)
    4. [4]
      Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients.Valle-Inclan JE, Stangl C, de Jong AC, van Dessel LF, van Roosmalen MJ, Helmijr JCA et al. Genome medicine (2021)
    5. [5]
      Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.Gong B, Li D, Kusko R, Novoradovskaya N, Zhang Y, Wang S et al. Genome biology (2021)
    6. [6]
      TARGET-Seq: A Protocol for High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing.Rodriguez-Meira A, O'Sullivan J, Rahman H, Mead AJ STAR protocols (2020)
    7. [7]
      Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE).Samsom KG, Bosch LJW, Schipper LJ, Roepman P, de Bruijn E, Hoes LR et al. BMC medical genomics (2020)
    8. [8]
      The MNK1/2-eIF4E Axis as a Potential Therapeutic Target in Melanoma.Prabhu SA, Moussa O, Miller WH, Del Rincón SV International journal of molecular sciences (2020)
    9. [9]
      Patient-specific logic models of signaling pathways from screenings on cancer biopsies to prioritize personalized combination therapies.Eduati F, Jaaks P, Wappler J, Cramer T, Merten CA, Garnett MJ et al. Molecular systems biology (2020)
    10. [10]
      An innovative "unlocked mechanism" by a double key avenue for one-pot detection of microRNA-21 and microRNA-141.Peng W, Zhao Q, Chen M, Piao J, Gao W, Gong X et al. Theranostics (2019)
    11. [11]
    12. [12]
    13. [13]
      Telomerase reverse transcriptase promoter mutations in hepatitis B virus-associated hepatocellular carcinoma.Yang X, Guo X, Chen Y, Chen G, Ma Y, Huang K et al. Oncotarget (2016)
    14. [14]
      Implementing and Improving Automated Electronic Tumor Molecular Profiling.Rioth MJ, Staggs DB, Hackett L, Haberman E, Tod M, Levy M et al. Journal of oncology practice (2016)
    15. [15]
      Kinase-independent role for CRAF-driving tumour radioresistance via CHK2.Advani SJ, Camargo MF, Seguin L, Mielgo A, Anand S, Hicks AM et al. Nature communications (2015)
    16. [16]
      Activation of diverse signalling pathways by oncogenic PIK3CA mutations.Wu X, Renuse S, Sahasrabuddhe NA, Zahari MS, Chaerkady R, Kim MS et al. Nature communications (2014)
    17. [17]
      Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.Lin MT, Mosier SL, Thiess M, Beierl KF, Debeljak M, Tseng LH et al. American journal of clinical pathology (2014)
    18. [18]
    19. [19]
      The combination of the histone deacetylase inhibitor vorinostat and synthetic triterpenoids reduces tumorigenesis in mouse models of cancer.Tran K, Risingsong R, Royce DB, Williams CR, Sporn MB, Pioli PA et al. Carcinogenesis (2013)
    20. [20]
    21. [21]
      Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers.Gonzalez-Bosquet J, Calcei J, Wei JS, Garcia-Closas M, Sherman ME, Hewitt S et al. PloS one (2011)
    22. [22]
      Rapid calcium-dependent activation of Aurora-A kinase.Plotnikova OV, Pugacheva EN, Dunbrack RL, Golemis EA Nature communications (2010)
    23. [23]
      AURKA inhibitor VIC-1911 induces mitotic defects and functional BRCAness, sensitizing prostate cancer to PARP inhibition.Gritsina G, Rath SK, Shi H, Chu Q, Xie W, Nguyen QTW et al. JCI insight (2026)
    24. [24]
      Exploiting metabolic adaptations to overcome dabrafenib treatment resistance in melanoma cells.Eller S, Ebner S, Haselrieder C, Günther JK, Drasche A, Strich S et al. Molecular oncology (2026)
    25. [25]
      Challenges in the return of molecular tumor profiling results.Lenz HJ, Craig DW, Johnson KC, Verhaak R, Bhattacharyya O, Davis B et al. Journal of the National Cancer Institute (2026)
    26. [26]
      Hybridization-based sensor with large dynamic range for detection of circulating tumor DNA in clinical samples.Stulens Y, Van Hoof R, Hollanders K, Nelissen I, Szymonik M, Wagner P et al. Biosensors & bioelectronics (2025)
    27. [27]
      In vitro cytotoxic investigation of some synthesized 1,6-disubstituted-1-azacoumarin derivatives as anticancer agents.Ali Barakat LA, El-Deen IM, El-Zend MA, El-Behery M Future medicinal chemistry (2023)
    28. [28]
      Development of a biotin-streptavidin-enhanced enzyme-linked immunosorbent assay (BA-ELISA) for high-throughput screening of KRASG12C inhibitors.Liu S, Shi J, Li H, Li J, Zhu Y, Li B et al. SLAS discovery : advancing life sciences R & D (2022)
    29. [29]
      Multiplex Detection of Clinically Relevant Mutations in Liquid Biopsies of Cancer Patients Using a Hybridization-Based Platform.Giménez-Capitán A, Bracht J, García JJ, Jordana-Ariza N, García B, Garzón M et al. Clinical chemistry (2021)
    30. [30]
    31. [31]
      Beehive-Inspired Macroporous SERS Probe for Cancer Detection through Capturing and Analyzing Exosomes in Plasma.Dong S, Wang Y, Liu Z, Zhang W, Yi K, Zhang X et al. ACS applied materials & interfaces (2020)
    32. [32]
    33. [33]
      Multiplex Enrichment and Detection of Rare KRAS Mutations in Liquid Biopsy Samples using Digital Droplet Pre-Amplification.Pratt ED, Cowan RW, Manning SL, Qiao E, Cameron H, Schradle K et al. Analytical chemistry (2019)
    34. [34]
      Aptamer-Based Sandwich Assay for Measurement of Thymidine Kinase 1 in Serum of Cancerous Patients.Nazari M, Gargari SLM, Sahebghadam Lotfi A, Rassaee MJ, Taheri RA Biochemistry (2019)
    35. [35]
      Current and future perspectives of liquid biopsies in genomics-driven oncology.Heitzer E, Haque IS, Roberts CES, Speicher MR Nature reviews. Genetics (2019)
    36. [36]
      Rapid Clinical and Radiographic Response With Combined Dabrafenib and Trametinib in Adults With BRAF-Mutated High-Grade Glioma.Johanns TM, Ferguson CJ, Grierson PM, Dahiya S, Ansstas G Journal of the National Comprehensive Cancer Network : JNCCN (2018)
    37. [37]
      Validation of OncoPanel: A Targeted Next-Generation Sequencing Assay for the Detection of Somatic Variants in Cancer.Garcia EP, Minkovsky A, Jia Y, Ducar MD, Shivdasani P, Gong X et al. Archives of pathology & laboratory medicine (2017)
    38. [38]
    39. [39]
      Biological screening of cucurbitacin inspired estrone analogs targeting mitogen-activated protein kinase (MAPK) pathway.Ahmed MS, El-Senduny F, Taylor J, Halaweish FT Chemical biology & drug design (2017)
    40. [40]
      Single-cell analysis of CTCs with diagnostic precision: opportunities and challenges for personalized medicine.Alberter B, Klein CA, Polzer B Expert review of molecular diagnostics (2016)
    41. [41]
      Multiparameter Phase I trials: a tool for model-based development of targeted agent combinations--example of EVESOR trial.El-Madani M, Hénin E, Lefort T, Tod M, Freyer G, Cassier P et al. Future oncology (London, England) (2015)
    42. [42]
      A new generation of cancer genome diagnostics for routine clinical use: overcoming the roadblocks to personalized cancer medicine.Heuckmann JM, Thomas RK Annals of oncology : official journal of the European Society for Medical Oncology (2015)
    43. [43]
      mTORC1 status dictates tumor response to targeted therapeutics.Kelsey I, Manning BD Science signaling (2013)
    44. [44]
      A generic time-resolved fluorescence assay for serine/threonine kinase activity: application to Cdc7/Dbf4.Xu K, Stern AS, Levin W, Chua A, Vassilev LT Journal of biochemistry and molecular biology (2003)
    45. [45]
    46. [46]
    47. [47]
      Expression of autocrine motility factor/phosphohexose isomerase in Cos7 cells.Lagana A, Duchaine T, Raz A, DesGroseillers L, Nabi IR Biochemical and biophysical research communications (2000)
    48. [48]
      Identification of residues in the cysteine-rich domain of Raf-1 that control Ras binding and Raf-1 activity.Winkler DG, Cutler RE, Drugan JK, Campbell S, Morrison DK, Cooper JA The Journal of biological chemistry (1998)
    49. [49]
    50. [50]
      Establishment of an enzyme-linked immunosorbent assay (ELISA) for measuring cellular MAGE-4 protein on human cancers.Shichijo S, Tsunosue R, Kubo K, Kuramoto T, Tanaka Y, Hayashi A et al. Journal of immunological methods (1995)
    51. [51]
      CRK proto-oncogene maps to human chromosome band 17p13.Fioretos T, Heisterkamp N, Groffen J, Benjes S, Morris C Oncogene (1993)
    52. [52]
      Use of the polymerase chain reaction technique to create base-specific ras oncogene mutations.Rochlitz CF, Scott GK, Dodson JM, Benz CC DNA (Mary Ann Liebert, Inc.) (1988)

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