Skin Neoplasm

In this case report, a 36-year-old male is presented with an advanced and recurrent Dermatofibrosarcoma Protuberans (DFSP) lesion. Following the third relapse and a round of radiotherapy, he was put o… (full text at CIViC)

PMID 23557478 · Kamar et al., 2013 · Open in CIViC

A 37-year-old man presented with dermatofibrosarcoma protuberans (DFSP). Post resection, multiple nodular metastases were found in both lungs and the disease progressed following treatments with cytot… (full text at CIViC)

PMID 29760553 · Xiao et al., 2018 · 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

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

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

In a molecular analysis comparing 46 apocrine cutaneous mixed tumors (CMTs) with 45 salivary gland pleomorphic adenomas (PAs), TRPS1::PLAG1 was the predominant PLAG1 fusion in CMTs and was significant… (full text at CIViC)

PMID 39468990 · Alsugair et al., 2024 · Open in CIViC