Melanocytic Neoplasm

Two phase I studies included 119 patients with advanced or metastatic solid tumors, which included 28 patients with ROS1 rearrangements (n=28) where the overall safety and antitumor activity of entrec… (full text at CIViC)

PMID 28183697 · Drilon et al., 2017 · 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, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated. A nonsense mutation in the HOXD8 gene wa… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

C57BL/6 mice were inoculated with B16/BL6 tumour cells and treated with anti-CTLA-4 to assess in-vivo effects of IFNGR1 knockdown on tumour growth. All untreated mice with wildtype scramble shRNA-tran… (full text at CIViC)

PMID 27667683 · Gao et al., 2016 · Open in CIViC

This study finds JAK1 and JAK2 mutation as determinants of primary resistance to PD-1 blockade therapy. Baseline tumors from patients with melanoma and colon cancer who did not respond to PD-1 blockad… (full text at CIViC)

PMID 27903500 · Shin et al., 2017 · 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

In a retrospective study of four relapsed, malignant melanoma patients, JAK2 (c.1641+2T>G) F547 splice site mutation was associated with acquired resistance to pembrolizumab monotherapy in one patient… (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

Phase 2 trial in metastatic mucosal, acral or chronically sun-damaged melanoma. Twenty-five patients were enrolled (24 evaluable). Eight patients (33%) had tumors with KIT mutations, 11 (46%) with KIT… (full text at CIViC)

PMID 23775962 · Hodi et al., 2013 · Open in CIViC

This phase II trial showed that nilotinib demonstrates response in a subset of melanoma patients (acral and mucosal subtypes) with KIT mutations. Median duration of response was 34 weeks. Of the 42 pa… (full text at CIViC)

PMID 26424760 · Lee et al., 2015 · Open in CIViC

261 Australian patients with melanoma were screened for mutations in KIT exons 11,13 and 17. 5 KIT mutations were found, including in 2 of the 4 total acral melanomas assessed. 1 subject with acral me… (full text at CIViC)

PMID 20088873 · Handolias et al., 2010 · Open in CIViC

FFPE tumor specimens from 295 melanoma patients were screened for KIT amplification and mutation. Of these, 51 patients had variants in KIT and 28 of these were treated with imatinib mesylate at 400 m… (full text at CIViC)

PMID 21642685 · Carvajal et al., 2011 · Open in CIViC

In a phase 2 clinical trial of 39 stage 3/4 chemotherapy-naive unresectable melanoma patients, a patient harboring a KIT exon 11 Deletion mutation was reported to have no response to dasatinib monothe… (full text at CIViC)

PMID 21523734 · Kluger et al., 2011 · Open in CIViC

Melanoma patients with KIT mutation but not KIT amplification showed response to imatinib treatment in a small cohort of patients.

PMID 23775962 · Hodi et al., 2013 · Open in CIViC

10 melanoma patients were evaluated after sunitinib treatment, among which 3 out of the 4 patients with KIT exon 11 mutations showed either complete or partial response.

In a phase 2 clinical trial of 39 stage 3/4 chemotherapy-naive unresectable melanoma patients receiving dasatinib without prior biomarker screening, six patients achieved clinical benefit (2 PR; 4 SD)… (full text at CIViC)

PMID 21523734 · Kluger et al., 2011 · Open in CIViC

In a case study, a patient with anal melanoma harboring a 7 codon duplication in the juxtamambrane region (exon 11) of KIT showed marked response 4 months after imatinib treatment.

PMID 18421059 · Hodi et al., 2008 · Open in CIViC

In a phase 2 clinical trial of 39 stage 3/4 chemotherapy-naive unresectable melanoma patients, a subungual melanoma patient harboring the KIT K642E mutation was reported to have a partial response to … (full text at CIViC)

PMID 21523734 · Kluger et al., 2011 · Open in CIViC

A 69 y.o. woman presented with metastatic mucosal melanoma of the anus. KIT was amplified in the tumor and harbored the K642E mutation. Post surgery with extensive margins, she was given a dose of ant… (full text at CIViC)

PMID 18510589 · Lutzky et al., 2008 · Open in CIViC

The melanoma cell line WM3211, which harbors the L576P mutation, is sensitive to dasatinib. Molecular modeling indicated the L576P mutation alters the conformation of KIT but did not alter the binding… (full text at CIViC)

PMID 19671763 · Woodman et al., 2009 · Open in CIViC

The melanoma cell line WM3211 (derived from an acral lentiginous melanoma), which harbors the L576P mutation, is not sensitive to imatinib, nilotinib, and sorafenib. Molecular modeling indicated the L… (full text at CIViC)

PMID 19671763 · Woodman et al., 2009 · Open in CIViC

In a phase II clinical trial of 43 melanoma patients harboring KIT mutations or amplifications, imatinib treatment exhibited significant anti-tumor activity with a median progression free survival of … (full text at CIViC)

PMID 21690468 · Guo et al., 2011 · Open in CIViC

A phase II trial assessed if nilotinib demonstrated response in a subset of 42 melanoma patients (acral and mucosal subtypes) harboring KIT gene mutations and/or amplification. Overall, 25 (59.5%) had… (full text at CIViC)

PMID 26424760 · Lee 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

A melanoma patient harboring the KIT S628N activating mutation underwent second-line imatinib therapy following lung metastatic progression that appeared after an eighth cycle of chemotherapy. The S62… (full text at CIViC)

PMID 25317746 · Vita et al., 2014 · Open in CIViC

In an in vitro study, Ba/F3 cells expressing KIT V559D mutation were found to have increased sensitivity to dasatinib (IC50: 22 nM). Sensitivity was determined by assessing cell proliferation, apopto… (full text at CIViC)

PMID 17372901 · Antonescu et al., 2007 · Open in CIViC

In a retrospective pan-cancer analysis of four immune checkpoint therapy (ICT)–treated cohorts (melanoma n = 287; NSCLC n = 131; total n = 418), KMT2 family mutations were associated with improved ICT… (full text at CIViC)

PMID 33653367 · Zhang et al., 2021 · 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 vitro studies of M229 (a human melanoma cell line) endogenously expressing wildtype KRAS and BRAF V600E (a known BRAF sensitizing mutation) found that cells induced to stably over-express wildtype … (full text at CIViC)

PMID 24265155 · Shi et al., 2014 · Open in CIViC

A total of 140 Spitzoid neoplasm cases were analyzed by FISH and/or targeted DNA and RNA sequencing (n=38). Mutually exclusive kinase fusions were found in 72 cases. NTRK1 fusions were observed in 23 … (full text at CIViC)

PMID 24445538 · Wiesner et al., 2014 · Open in CIViC

The in-frame LMNA-NTRK1 fusion (exon 2 & exon 11) with intact kinase domain was found and confirmed by next generation sequencing, RT-PCR, FISH, and/or immunohistochemistry in 3 Spitz neoplasm cases. … (full text at CIViC)

PMID 24445538 · Wiesner et al., 2014 · Open in CIViC

A patient with BRAF-mutant melanoma relapsed after treatment with PLX4032 (vemurafenib). The MAP2K1 C121S mutation was identified as a relapse-specific variant and was undetectable in the pre-treatmen… (full text at CIViC)

PMID 21383288 · Wagle et al., 2011 · Open in CIViC

In a retrospective study, of a phase 2 clinical trial (NCT00949702), of 132 BRAF mutation positive metastatic melanoma patients treated with vemurafenib monotherapy, the MAP2K1 E203K mutation was asso… (full text at CIViC)

PMID 23569304 · Trunzer et al., 2013 · Open in CIViC

In a retrospective study, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated Five MAP2K1 gene mutations (encodes the M… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

In a retrospective study, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated Five MAP2K1 gene mutations (encodes the M… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

In a retrospective study, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated Five MAP2K1 gene mutations (encodes the M… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

In a phase 2 clinical trial, patients with BRAF V600-mutated melanoma were treated with selumetinib. One patient whose tumor did not response had a MAP2K1 K57N mutation.

PMID 23444215 · Catalanotti et al., 2013 · Open in CIViC

In a retrospective study, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated Five MAP2K1 gene mutations (encodes the M… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

A375 cells expressing MAP2K1 P124S mutation conferred an approximately 5-fold increased resistance to selumetinib (AZD6244) induced growth inhibition when compared to untransduced cells, cells express… (full text at CIViC)

PMID 19915144 · Emery et al., 2009 · Open in CIViC

In a retrospective study, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated Five MAP2K1 gene mutations (encodes the M… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

A375 cells expressing MAP2K1 Q56P mutation conferred an approximately 100-fold increased resistance to selumetinib (AZD6244) induced growth inhibition when compared to untransduced cells, cells expres… (full text at CIViC)

PMID 19915144 · Emery et al., 2009 · Open in CIViC

In a retrospective study of a phase 2 clinical trial (NCT00949702), of 132 BRAF mutation positive metastatic melanoma patients treated with vemurafenib monotherapy, the MAP2K1 Q56P mutation was associ… (full text at CIViC)

PMID 23569304 · Trunzer et al., 2013 · Open in CIViC

In a retrospective study, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated Five MAP2K1 gene mutations (encodes the M… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

In a retrospective study, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated Five MAP2K1 gene mutations (encodes the M… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

In a retrospective study, authors analyzed BRAF V600 mutated melanoma metastases derived from 10 patients treated with the combination of dabrafenib and trametinib for resistance mechanisms and geneti… (full text at CIViC)

PMID 25452114 · Long et al., 2014 · Open in CIViC

In a retrospective study, resistance mechanisms to BRAF inhibitor such as vemurafenib or dabrafenib in patients with BRAF V600 mutated melanoma were evaluated. Four mutations involving the MAP2K2 gene… (full text at CIViC)

PMID 24265153 · Van Allen et al., 2014 · Open in CIViC

In a retrospective study of 30 metastatic melanoma patients, a patient harboring MAP2K2 F57C mutation was reported to be resistant to vemurafenib treatment. The patient was initially found to harbor a… (full text at CIViC)

PMID 24463458 · Rizos et al., 2014 · Open in CIViC