Skin Neoplasm

72-year old male patient presents with SCC with a mutation profile consistent with UV exposure. Sequencing revealed a number of abnormalities including P753S mutation in EGFR. Patient began therapy wi… (full text at CIViC)

PMID 24934779 · Ganesan et al., 2016 · Open in CIViC

By transcriptome sequencing, they identified the fusion variant EGFR::PPARGC1A in around 30% (31 out of 102) of cutaneous squamous cell carcinoma (cSCC). They found that the lesions harboring the fusi… (full text at CIViC)

PMID 28978917 · Egashira et al., 2017 · Open in CIViC

In a cohort of 20 patients with dermatofibrosarcoma protuberans that were previously negative for COL1A1::PDGFB fusion with fluorescence in situ hybridization, RNA-sequencing was applied. novel and re… (full text at CIViC)

PMID 29955147 · Dadone-Montaudié et al., 2018 · 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 71-year old male with metastatic extramammary Paget’s disease of the scrotum overexpressing Her2/neu was treated with trastuzumab, achieving a complete response. At 12 months, he maintains stable di… (full text at CIViC)

PMID 25692060 · Barth et al., 2015 · 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

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · Open in CIViC

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · Open in CIViC

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · Open in CIViC

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · Open in CIViC

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · Open in CIViC

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · 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

Evaluation of 39 aggressive cutaneous squamous cell carcinomas revealed that tumors with a KMT2C mutation were 5x more likely to invade the bone (53% versus 10%; p=0.008). Patients with KMT2C mutatio… (full text at CIViC)

PMID 25303977 · Pickering et al., 2014 · 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

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · Open in CIViC

In a retrospective study of 23 patients with BRAF V600 mutation (a known vemurafenib sensitizing mutation) that developed cutaneous squamous-cell carcinoma upon treatment with vemurafenib monotherapy,… (full text at CIViC)

PMID 22256804 · Su et al., 2012 · 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

An 18-month-old female patient presented with a history of an enlarging, subcutaneous mass in her right lower extremity since birth. A biopsy was performed and the findings were typical of Dermatofibr… (full text at CIViC)

PMID 15503291 · Price et al., 2005 · Open in CIViC

In this retrospective study, two patients with locally advanced Dermatofibrosarcoma Protuberans (DFSP) and two patients with recurrent DFSP received imatinib treatment prior to undergoing Mohs surgery… (full text at CIViC)

PMID 19620561 · Han et al., 2009 · Open in CIViC