Cutaneous Melanocytic Neoplasm

Retrospective analysis of somatic mutations and copy number changes in 119 patients treated with carboplatin, paclitaxel, ± sorafenib (CPS) in the E2603 trial. CPS therapy was associated with improved… (full text at CIViC)

PMID 26307133 · Wilson et al., 2016 · Open in CIViC

Whole exome sequencing, transcriptome and methylome alterations in 48 melanoma samples with acquired resistance to BRAFi +/- MEKi therapy compared to patient-matched baseline melanoma tissues were ana… (full text at CIViC)

PMID 26359985 · Hugo et al., 2015 · Open in CIViC

FFPE tumours from patients enrolled in the BRIM2 (n = 59) and BRIM3 (n = 150) trials of vemurafenib in advanced BRAF mutant (V600E/K) melanoma were analyzed for MET expression (IHC). Pretreatment MET … (full text at CIViC)

PMID 23802768 · Jubb et al., 2013 · Open in CIViC

A patient with recurrent melanoma harboring a MIPOL1-RAF1 fusion with an intact RAF1 kinase domain received belvarafenib after progression following pembrolizumab with radiotherapy. Belvarafenib was i… (full text at CIViC)

PMID 38470950 · Kim et al., 2024 · Open in CIViC

Preclinical study of mouse melanoma both in-vitro and in-vivo. Braf/Nf1-mutant melanomas were less sensitive to vemurafenib than the MEK inhibitor PD0325901. mTOR inhibition with rapamycin had a more … (full text at CIViC)

PMID 23171796 · Maertens et al., 2013 · Open in CIViC

NF1 was identified in an unbiased RNAi screen as mediator of resistance to BRAF inhibition in BRAF mutant melanoma. Knockdown of NF1 led to PLX4720 resistance in-vitro. MEK inhibition with AZD6244 (se… (full text at CIViC)

PMID 23288408 · Whittaker et al., 2013 · Open in CIViC

A patient with acral melanoma harboring NRAS G13R received belvarafenib monotherapy after four prior lines of systemic therapy and achieved stable disease as the best RECIST response. The patient rece… (full text at CIViC)

PMID 38470950 · Kim et al., 2024 · Open in CIViC

Preclinical study in melanoma cell lines. Cell lines (2-5/assay) with NRAS mutation were more sensitive to Amuvatinib (inhibitor targets multiple tyrosine kinases) than BRAF mutant cell lines in growt… (full text at CIViC)

PMID 24950457 · Fedorenko et al., 2014 · Open in CIViC

NEMO is an ongoing, randomised, open-label phase 3 study of patients with advanced, unresectable, AJCC IIIC/IV NRAS-mutant melanoma. 402 patients that were previously untreated or progressed on or aft… (full text at CIViC)

PMID 28284557 · Dummer et al., 2017 · Open in CIViC

Phase 2 study of MEK162 in patients with advanced melanoma and NRAS or BRAF mutation. 71 patients were enrolled, 6/30 patients with NRAS mutation had a partial response (Gln61Leu 1 Patient, Gln61Lys 9… (full text at CIViC)

PMID 23414587 · Ascierto et al., 2013 · Open in CIViC

Phase 1 trial in 57 patients with advanced cancers treated with selumetinib. 4 melanoma patients had NRAS Q61 mutations. One patient with NRAS mutation had 70% tumor shrinkage after three cycles of se… (full text at CIViC)

PMID 18390968 · Adjei et al., 2008 · Open in CIViC

A patient with acral melanoma harboring NRAS Q61K received belvarafenib as first-line therapy for metastatic disease after progression on adjuvant pembrolizumab and achieved stable disease as the best… (full text at CIViC)

PMID 38470950 · Kim et al., 2024 · Open in CIViC

Preclinical study in melanoma cell lines. NRAS Q61K, in addition to the BRAF V600E mutation was associated with resistance to vemurafenib but sensitivity to AZD6244 (selumetinib) in vitro in the acqui… (full text at CIViC)

PMID 22194965 · Atefi et al., 2011 · Open in CIViC

In an in vitro study of single-cell clones derived from a cutaneous melanoma patient expressing a BRAF V600E mutation (a known sensitizing mutation to vemurafenib) and NRAS Q61R co-mutations, NRAS Q61… (full text at CIViC)

PMID 23948972 · Romano et al., 2013 · Open in CIViC

A 4 year old African American girl was seen for a lesion on the scalp. Punch biopsy was done on a largely skin-colored subcutaneous nodule. Subcutaneous nodular aggregations of heavily pigmented epith… (full text at CIViC)

PMID 31437301 · Friedman et al., 2020 · Open in CIViC

Case report of a 47year old female patient with metastatic melanoma (BRAF, NRAS, KIT negative). A PPFIBP2-BRAF fusion was identified from DNA from a brain metastasis (inton 3 of PPFIBP2 fused to intro… (full text at CIViC)

PMID 26072686 · Menzies et al., 2015 · Open in CIViC

A 26-year old patient presented with vemurafenib resistant BRAF V600E-mutated cutaneous melanoma. Five metastases were evaluated using whole genome sequencing and a 4-bp deletion in PTEN (frameshift m… (full text at CIViC)

PMID 24504448 · Turajlic et al., 2014 · Open in CIViC

In vitro and in vivo studies that demonstrate that RAC1-P29S is capable of promoting cell survival and resistance to treatment, specifically BRAF inhibition. The authors expressed both a 4-hydroxytamo… (full text at CIViC)

PMID 31257073 · Lionarons et al., 2019 · Open in CIViC

Retrospective analysis of somatic mutations and copy number changes in 119 patients treated with carboplatin, paclitaxel, ± sorafenib (CPS) in the E2603 trial. CPS therapy was associated with improved… (full text at CIViC)

PMID 26307133 · Wilson et al., 2016 · Open in CIViC

A 51 year old male patient with metastatic cutaneous melanoma harboring a RUFY1::RAF1 fusion received the MEK inhibitor binimetinib after prior pembrolizumab and ipilimumab/nivolumab. During four mont… (full text at CIViC)

PMID 35871080 · Moran et al., 2022 · Open in CIViC

In patients with acral lentiginous melanoma, those with amplification of TERT had shorter overall survival.

PMID 25219713 · Diaz et al., 2014 · Open in CIViC

In patients with nonacral cutaneous melanoma, those with mutations in the TERT promoter had shorter overall survival than wild-type patients.

PMID 25217772 · Griewank et al., 2014 · Open in CIViC

Foundation One NGS assay and targeted RNAseq identified PAPSS1-BRAF fusion in a melanoma sample. Further BRAF fusions (TRIM24-BRAF) were identified in TCGA and additional samples. Ectopic expression o… (full text at CIViC)

PMID 24345920 · Hutchinson et al., 2013 · Open in CIViC