Cutaneous Melanocytic Neoplasm

To identify novel molecular mechanism(s) of resistance, we generated PLX4032-resistant cell lines by chronic exposure of the BRAF (V600E)-positive parental melanoma cell line Mel-CV to PLX4032. After … (full text at CIViC)

PMID 24201813 · Hu et al., 2013 · Open in CIViC

A 42 year old male patient with stage III cutaneous melanoma harboring an AGAP3::BRAF fusion was treated with the MEK inhibitor trametinib after prior pembrolizumab and experienced a response lasting … (full text at CIViC)

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

Expression of an alternative ALK transcript (ATI), encompassing exons 20–29 preceded by ~400 base pairs (bp) of intron 19, but not exons 1–19 was identified in three samples of thyroid cancer and mela… (full text at CIViC)

PMID 26444240 · Wiesner et al., 2015 · Open in CIViC

Paired tumor samples were analyzed from four patients with metastatic melanoma and initial response with a subsequent relapse under pembrolizumab (PD-1 checkpoint inhibitor) therapy. Baseline biopsies… (full text at CIViC)

PMID 27433843 · Zaretsky et al., 2016 · Open in CIViC

Preclinical study in melanoma cell lines. Inactivity of BRAF as mediated by specific mutation (D594A, D594V or K483M) or selective pharmacological inhibition leads to MEK hyperactivation through CRAF … (full text at CIViC)

PMID 20141835 · Heidorn et al., 2010 · Open in CIViC

In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations were identified. These cell lines were resitant to MEK-Inhibition but underwent apoptosis after shRN… (full text at CIViC)

PMID 18794803 · Smalley et al., 2009 · Open in CIViC

In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations were identified. These cell lines were resitant to MEK-Inhibition but underwent apoptosis after shRN… (full text at CIViC)

PMID 18794803 · Smalley et al., 2009 · Open in CIViC

Patients were treated with a specific RAF inhibitor (dabrafenib), which improved overall survival of patients with BRAF mutations (P<0.003), compared to non-treated patients with BRAF mutations. Patie… (full text at CIViC)

PMID 21343559 · Long et al., 2011 · Open in CIViC

An inducible BRAF-V600E mouse melanoma model shows a tight correlation between activated BRAF and disease progression.

PMID 16424035 · Hoeflich et al., 2006 · Open in CIViC

Preclinical study in melanoma cell lines. Inactivity of BRAF as mediated by specific mutation (D594A, D594V or K483M) or selective pharmacological inhibition leads to MEK hyperactivation through CRAF … (full text at CIViC)

PMID 20141835 · Heidorn et al., 2010 · Open in CIViC

In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations were identified. These cell lines were resitant to MEK-Inhibition but underwent apoptosis after shRN… (full text at CIViC)

PMID 18794803 · Smalley et al., 2009 · Open in CIViC

In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations were identified. These cell lines were resitant to MEK-Inhibition (U0126) but underwent apoptosis af… (full text at CIViC)

PMID 18794803 · Smalley et al., 2009 · Open in CIViC

Preclinical study in melanoma cell lines. Inactivity of BRAF as mediated by specific mutation (D594A, D594V or K483M) or selective pharmacological inhibition leads to MEK hyperactivation through CRAF … (full text at CIViC)

PMID 20141835 · Heidorn et al., 2010 · Open in CIViC

In a study of 197 metastatic melanoma patients, BRAF mutations were identified in 95 patients including V600E (n=70), V600K (n=19), K601E (n=1) and D594N (n=1). Patients were treated with a specific R… (full text at CIViC)

PMID 21343559 · Long et al., 2011 · Open in CIViC

Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants elevated phospho-MEK and ERK levels. Vemurafenib treatment of all of the BRAF mutant–expressing cells led… (full text at CIViC)

PMID 22798288 · Dahlman et al., 2012 · Open in CIViC

Case study report including one patient with L597Q mutation-positive metastatic melanoma (M1b disease) treated with the MEK inhibitor trametinib. The L597Q patient achieved a RECIST partial response a… (full text at CIViC)

PMID 24933606 · Bowyer et al., 2014 · Open in CIViC

Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants elevated phospho-MEK and ERK levels. Vemurafenib treatment of all of the BRAF mutant–expressing cells led… (full text at CIViC)

PMID 22798288 · Dahlman et al., 2012 · Open in CIViC

Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants elevated phospho-MEK and ERK levels. Vemurafenib treatment of all of the BRAF mutant–expressing cells led… (full text at CIViC)

PMID 22798288 · Dahlman et al., 2012 · Open in CIViC

Case report of a 69 year old patient with metastatic melanoma treated with MEK inhibitor TAK-733 in a clinical trial. A partial radiographic response with a decrease of 31% in the sum of maximum diame… (full text at CIViC)

PMID 22798288 · Dahlman et al., 2012 · Open in CIViC

Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants elevated phospho-MEK and ERK levels. Vemurafenib treatment of all of the BRAF mutant–expressing cells led… (full text at CIViC)

PMID 22798288 · Dahlman et al., 2012 · Open in CIViC

Case report of a phase 1 study in advanced melanoma patients. 97 patients with melanoma were enrolled and treated with trametinib. One patient with a BRAF Leu597Val had a confirmed partial response wi… (full text at CIViC)

PMID 22805292 · Falchook et al., 2012 · Open in CIViC

The Combi-v (NCT01597908) open-label, randomized phase 3 trial had 704 patients with metastatic melanoma with a BRAF V600 mutation. Patients were randomized to receive either a combination of dabrafen… (full text at CIViC)

PMID 25399551 · Robert et al., 2015 · Open in CIViC

In a phase 2 clinical trial with 250 metastatic melanoma BRAF-V600E patients, treatment groups were randomly assigned to either dabrafenib, BRAF specific inhibitor, (n=187) or dacarbazine, a standard… (full text at CIViC)

PMID 22735384 · Hauschild et al., 2012 · Open in CIViC

In a clinical trial (NCT01597908) of 704 metastatic melanoma patients, patients harboring a BRAF V600E mutation and treated with vemurafenib (n=317) were associated with a 51% response rate, as compar… (full text at CIViC)

PMID 25399551 · Robert et al., 2015 · Open in CIViC

In the randomized phase III COLUMBUS trial of patients with locally advanced unresectable or metastatic BRAF V600-mutant melanoma, 22 patients with BRAF V600K received encorafenib plus binimetinib and… (full text at CIViC)

PMID 29573941 · Dummer et al., 2018 · Open in CIViC

In a phase 3 clinical trial (NCT01597908) involving 704 patients with metastatic melanoma harboring BRAF V600 mutations, a subgroup analysis of patients with V600K mutations showed an objective respon… (full text at CIViC)

PMID 25399551 · Robert et al., 2015 · Open in CIViC

In a stage IV cutaneous nodular thoracic melanoma patient with pulmonary, liver and brain metastases, harboring a BRAF V600_K601delinsD mutation, stable disease to vemurafenib monotherapy was reported… (full text at CIViC)

PMID 25265970 · Trudel et al., 2014 · Open in CIViC

An 81 year old male was diagnosed with ulcerated cutaneous melanoma of the occiput (M1c), and had undergone several local resections and radiotherapy. A metastasis was found to harbor BRAF V600R mutat… (full text at CIViC)

PMID 23237741 · Klein et al., 2013 · Open in CIViC

Nine patients with BRAF V600R mutated metastatic melanoma were given dabrafenib (n=7) or vemurafenib (n=2) monotherapy as part of a compassionate access program. Five out of six radiographically asses… (full text at CIViC)

PMID 23237741 · Klein et al., 2013 · Open in CIViC

Retrospective analysis of somatic mutations and copy number changes in 119 patient 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

In a cohort of 143 patients with primary invasive melanoma, copy-number gain of CDK4 was observed (FISH) in 37% of cases. PD0332991 efficacy (proliferation assay) was assessed in a panel of 47 melanom… (full text at CIViC)

PMID 24495407 · Young et al., 2014 · Open in CIViC

Preclinical study in 9 melanoma cell lines. Three cell lines did not have CDKN2A (p16) mutations and showed expression of the protein on western blot analysis. Two of the other six cell lines had stop… (full text at CIViC)

PMID 12777976 · Robinson et al., 2003 · Open in CIViC

In a cohort of 143 patients with primary invasive melanoma hemizygous or homozygous loss of CDKN2A was observed (FISH) in 56% of cases. PD0332991 efficacy (proliferation assay) was assessed in a panel… (full text at CIViC)

PMID 24495407 · Young et al., 2014 · Open in CIViC

An 88-year-old male acral melanoma patient harbouring EMSY gene amplification without abnormal BRCA2 expression levels was treated with PARPi, talazoparib. The patient was treated with talazoparib at … (full text at CIViC)

PMID 38778889 · Nassief et al., 2024 · Open in CIViC

Preclinical study in melanoma cell lines. EZH2 expression was higher in EZH2 mutant (N=3) and wild-type melanoma cell lines (N=12) than untransformed cells (human epithelial melanocytes and human derm… (full text at CIViC)

PMID 26304929 · Tiffen et al., 2015 · Open in CIViC

Conditional expression of mouse equivalent mutation Ezh2(Y641F) in melanocytes caused high penetrance melanoma

PMID 27135738 · Souroullas et al., 2016 · Open in CIViC

In an in vitro study, an A375 cell line expressing BRAF V600E (a known sensitizing mutation to vemurafenib) and FGFR3 K650E co-mutations, demonstrated resistance to vemurafenib treatment (IC50: 1480 n… (full text at CIViC)

PMID 21107323 · Nazarian et al., 2010 · Open in CIViC

Cells were derived from a 26-year old patient with vemurafenib resistant BRAF-mutated (V600E) cutaneous melanoma (designated 20 092 cells). Five of his metastases evaluated using whole genome sequenci… (full text at CIViC)

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

A 26-year old patient presented with vemurafenib resistant BRAF-mutated (V600E) cutaneous melanoma. Five of his metastases were evaluated using whole genome sequencing. A GNAQ (Q209P) mutation was ide… (full text at CIViC)

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

An 88-year-old patient with metastatic acral melanoma harboring a GOLGA4-RAF1 fusion received binimetinib 45 mg twice daily after progression on multiple immunotherapy regimens and clinical deteriorat… (full text at CIViC)

PMID 39504576 · Khaddour et al., 2025 · Open in CIViC

Melanoma patients treated with Anti-PD1 or anti-PD-L1(nivolumab, pembrolizumab, MPDL3280A) therapy were analyzed for expression of HLA-DRA (the primary antigen-presenting molecule of the MHC-II pathwa… (full text at CIViC)

PMID 26822383 · Johnson et al., 2016 · Open in CIViC

Paired tumor samples were analyzed from four patients with metastatic melanoma and initial response with a subsequent relapse under pembrolizumab (PD-1 checkpoint inhibitor) therapy. Baseline biopsies… (full text at CIViC)

PMID 27433843 · Zaretsky et al., 2016 · Open in CIViC

Paired tumor samples were analyzed from four patients with metastatic melanoma and initial response with a subsequent relapse under pembrolizumab (PD-1 checkpoint inhibitor) therapy. Baseline biopsies… (full text at CIViC)

PMID 27433843 · Zaretsky et al., 2016 · Open in CIViC

A 65 yr old male patient with metastatic acral lentiginous melanoma (BRAF, NRAS, KIT negative) was found to harbor a KIAA1549-BRAF (intron 15-intron 8) fusion in a subcutaneous metastasis sample after… (full text at CIViC)

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

In a BRAF, NRAS-wt acral melanoma patient, KIT c.1514A>T point mutation (N505I) has been identified and its in-vitro constitutive activity and sensitivity to imatinib and sorafenib demonstrated.

PMID 24317392 · Allegra et al., 2014 · Open in CIViC

The rs17084733 variant in the 3' UTR of KIT was correlated with susceptibility to melanoma when comparing 70 melanoma patients to 94 healthy individuals from the same community. This variant was most … (full text at CIViC)

PMID 21119596 · Godshalk et al., 2011 · Open in CIViC