Melanoma

A clinical trial of 86 patients evaluated concurrent (n=53) or sequential (n=33) treatment of ipilimumab (anti-CTLA4) and nivolumab (anti-PD1). In the concurrent regimen cohort, 65% of patients showed… (full text at CIViC)

PMID 23724867 · Wolchok et al., 2013 · Open in CIViC

Based on a meta-analysis of 20 trials (1475 patients), of which 7 studies (636 patients) included melanoma, PD-L1 expression was associated with a higher ORR rate in patients with melanoma. Active dru… (full text at CIViC)

PMID 26086854 · Carbognin et al., 2015 · Open in CIViC

Within a preclinical trial, 37 patients with metastatic melanoma showed a limited number of cases that responded to anti-PD-1 antibodies in correlation to higher immunohistochemical PD-L1 expression. … (full text at CIViC)

PMID 27491654 · Cho et al., 2016 · Open in CIViC

Among 51 patients, patients expressing CD44v6 in primary melanoma were classified in the "high-risk for MBM" group with a sensitivity of 71.4% and a specificity of 60.9% (AUC = 0.68) Moreover, among 5… (full text at CIViC)

PMID 25169209 · Marzese et al., 2015 · 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

These authors demonstrated that cyclin-dependent kinase 5 (CDK5) is instrumental in metastasis of melanomas and that inhibition of this kinase impairs melanoma metastasis. CDK5 phosphorylates the inte… (full text at CIViC)

PMID 32193336 · Sharma et al., 2020 · Open in CIViC

In an in vitro study, a melanoma C052 cell line expressing CDKN2A A20P mutation (endogenous) demonstrated sensitivity to palbociclib treatment (GI50: 79nM). Sensitivity was determined by assessing cel… (full text at CIViC)

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

Skipping of exon 2 of both the CDKN2A p14 and p16 isoform transcripts was detected by RT-PCR in a lymphoblastoid cell line derived from a patient carrying the c.151-1G>C variant. The novel CDKN2A spl… (full text at CIViC)

PMID 11433531 · Petronzelli et al., 2001 · 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

In an in vitro study, a melanoma CHL1 cell line expressing CDKN2A W110* nonsense mutation (endogenous) demonstrated sensitivity to palbociclib treatment (GI50: 192nM). Sensitivity was determined by as… (full text at CIViC)

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

CIC knockout conferred resistance to trametinib in NRAS Q61L (MELJUSO) and BRAF V600E (A375) melanoma cell lines.

PMID 28178529 · Wang et al., 2017 · Open in CIViC

CIC knockout conferred resistance to vemurafenib in BRAF V600E (A375) melanoma cell lines.

PMID 28178529 · Wang et al., 2017 · Open in CIViC

Activation of melanoma-cell-intrinsic WNT/β-catenin signalling pathway contributes to a lack of T-cell infiltration in melanoma. Molecular analysis of human metastatic melanoma samples revealed a corr… (full text at CIViC)

PMID 25970248 · Spranger et al., 2015 · Open in CIViC

In this study we report that nonspitzoid metastasizing melanomas of adults may also harbor NTRK fusions and that NTRK expression can be immunohistochemically detected in these tumors. Of 751 melanomas… (full text at CIViC)

PMID 29683819 · Lezcano et al., 2018 · Open in CIViC

MEK inhibitor-resistant (selumetinib, PD0325901, GSK1129212) uveal melanoma cell lines were created from two GNAQ Q209L mutant cell lines. Overexpression of DDX43 mediated RAS-induced selumetinib resi… (full text at CIViC)

PMID 24899684 · Ambrosini et al., 2014 · Open in CIViC

A 68-year-old woman presented with a painful left facial mass that was excised and pathologically diagnosed as malignant melanoma. Following surgery, she received adjuvant radiotherapy combined with t… (full text at CIViC)

PMID 33846089 · Wei et al., 2021 · Open in CIViC

EIF1AX was identified as a uveal melanoma (UM) driver gene by whole-exome sequencing. Approximately 14%–20% of UM carry a mutation in EIF1AX, with most mutations found in exons 1 and 2. EIF1AX mutatio… (full text at CIViC)

PMID 23793026 · Martin et al., 2013 · 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

A preclinical study demonstrating that in a subgroup of BRAF/NRAS wildtype/wildtype showing high levels of phospho-ErbB3, knockdown of NRG1 reduced viability and decreased activation of ErbB3, ErbB2 a… (full text at CIViC)

PMID 26206558 · Capparelli et al., 2015 · Open in CIViC

MEK inhibitors improve survival in cutaneous melanoma patients but show only modest efficacy in metastatic uveal melanoma patients. In this study, we screened for growth factors that elicited resistan… (full text at CIViC)

PMID 25952648 · Cheng et al., 2015 · Open in CIViC

ERBB4 was the most commonly mutated protein tyrosine kinase in this study in melanoma (19% in 79 patients). Seven of the identified mutations in ERBB4 (E317K, E452K, E542K, R544W, E563K, E836K and E87… (full text at CIViC)

PMID 19718025 · Prickett et al., 2009 · Open in CIViC

In a retrospective pan-cancer ICI-treated cohort from MSKCC (cohort 3, n = 1661), ERCC2/ERCC3/ERCC4/ERCC5-mutated tumors demonstrated improved OS vs ERCC-WT tumors (HR 0.54, 95% CI 0.42-0.70; p < 0.00… (full text at CIViC)

PMID 37626083 · Chen et al., 2023 · Open in CIViC

In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included a patient with melanoma … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · 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

Additional diseases: GC-DLBCL, Follicular lymphoma (FL). Y641 mutations are present in about 20% of GC-DLBCL, 10% FL, and 5% Melanoma (from TCGA/cBioportal). Also note that Y641 and Y646 mutations ar… (full text at CIViC)

PMID 27135738 · Souroullas et al., 2016 · 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

In a clinical trial including 20 patients and 105 lesions, intralesional administration of L19IL2/L19TNF shows 30.5% CR, 17.1% PR, 25.7% SD, 5.7% PD and 21% non-CR.

PMID 25971540 · Danielli et al., 2015 · Open in CIViC

In a clinical study including 25 patients, patients treated with L19IL2 show 44.4% irCR, 9.5% irPR, 36.5% ires ans 9.5% irPD.

PMID 24906352 · Weide et al., 2014 · Open in CIViC

In a clinical study including 69 patients, patients treated with L19IL2 and dacarbazine show a significant increased OS compared to patients treated only with dacarbazine (p = 0.048).

A patient with metastatic melanoma harboring a GCC2-RAF1 fusion involving RAF1 intron 7 (which retains the kinase domain) received binimetinib 45 mg twice daily after progression on multiple prior sys… (full text at CIViC)

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

In total, 77 patients with metastatic melanoma (62% cutaneous, 30% uveal, 8% mucosal) were admitted into a randomized phase II trial assessing the efficacy of Cabozantinib. Patients received cabozanti… (full text at CIViC)

PMID 28103611 · Daud et al., 2017 · Open in CIViC

Preclinical study in uveal melanoma cell lines. Cell lines (n=5) with GNAQ (92.1, Omm1.3, Mel270, Mel202) or GNA11 (Omm1) mutation were more sensitive to BRD4 inhibition with JQ1 than GNAQ/11 wild typ… (full text at CIViC)

PMID 26397223 · Ambrosini et al., 2015 · Open in CIViC

101 patients with metastatic uveal melanoma were randomized 1:1 to receive selumetinib or chemotherapy. Median PFS among patients randomized to chemotherapy was 7 weeks (95% CI, 4.3-8.4 weeks; median … (full text at CIViC)

PMID 24938562 · Carvajal et al., 2014 · Open in CIViC

Patients with metastatic melanoma (n=77; 48 cutaneous, 23 uveal, 6 mucosal) were enrolled in a phase II randomised discontinuation trial assessing cabozantinib. Patients received 100 mg cabozantinib d… (full text at CIViC)

PMID 28103611 · Daud et al., 2017 · Open in CIViC

Preclinical study in uveal melanoma cell lines. Cell lines (n=4) with GNAQ mutation (92.1, Omm1.3, Mel270, Mel202) were more sensitive to BRD4 inhibition with JQ1 than GNAQ/GNA11 wild type (n=3) cell … (full text at CIViC)

PMID 26397223 · Ambrosini et al., 2015 · Open in CIViC

Phase 1 study of MAPK1/2 inhibitor BAY 86-9766. 53 patients were evaluated for efficacy, one patients achieved a PR and 11 patients had stable disease. One ocular melanoma patient with prolonged stabl… (full text at CIViC)

PMID 23434733 · Weekes et al., 2013 · Open in CIViC

101 patients with metastatic uveal melanoma were randomized 1:1 to receive selumetinib or chemotherapy. Median PFS among patients randomized to chemotherapy was 7 weeks (95% CI, 4.3-8.4 weeks; median … (full text at CIViC)

PMID 24938562 · Carvajal et al., 2014 · 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

This study showed that GNAS1 T393C SNP represents a genetic host factor for predicting tumor progression in patients with malignant melanoma. Carriers of the C-allele showed a significantly more sever… (full text at CIViC)

PMID 21156401 · Frey et al., 2010 · 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

In a case study of a metastatic melanoma with a GOLGA4-RAF1 fusion, the patient was administered MEK inhibitor therapy in the absence of other actionable variants. This resulted in a profound and clin… (full text at CIViC)

PMID 30835257 · McEvoy et al., 2019 · Open in CIViC

In this study we report that nonspitzoid metastasizing melanomas of adults may also harbor NTRK fusions and that NTRK expression can be immunohistochemically detected in these tumors. Of 751 melanomas… (full text at CIViC)

PMID 29683819 · Lezcano et al., 2018 · Open in CIViC