Publications by authors named "Julia Kretz"
Article Synopsis
- Screening for gene mutations in melanoma has become standard practice, with identified mutations impacting prognosis in metastatic uveal melanoma, while their significance in non-uveal melanoma is still unclear.
- A study analyzing 2,650 melanoma cases found mutations in 129 samples, highlighting differences in the prevalence and types of mutations between uveal and non-uveal melanomas.
- Unlike uveal melanomas, where mutations are linked to worse outcomes, mutations in non-uveal melanomas are mostly seen as "passenger mutations" with little impact on prognosis or treatment effectiveness.
Purpose: Recent studies have demonstrated HLA class II (HLA-II)-dependent killing of melanoma cells by cytotoxic CD4 T cells. We investigated evolution of HLA-II-loss tumors that escape cytotoxic CD4 T-cell activity and contribute to immunotherapy resistance.
Experimental Design: Melanoma cells from longitudinal metastases were studied for constitutive and IFN-inducible HLA-II expression, sensitivity towards autologous CD4 T cells, and immune evasion by HLA-II loss.
Melanocytic neoplasms have been genetically characterized in detail during the last decade. Recurrent exon 3 mutations have been recognized in the distinct group of melanocytic tumors showing deep penetrating nevus-like morphology. In addition, they have been identified in 1-2% of advanced melanoma.
View Article and Find Full Text PDFAround 10% of melanoma occurs in patients with a suspected familial predisposition. TERT promoter mutations are the most common somatic hotspot mutations in human cancers. However, only two families with germline mutations have been identified to date.
View Article and Find Full Text PDFAccurate classification of melanocytic tumors is important for prognostic evaluation, treatment and follow-up protocols of patients. The majority of melanocytic proliferations can be classified solely based on clinical and pathological criteria, however in select cases a definitive diagnostic assessment remains challenging and additional diagnostic biomarkers would be advantageous. We analyzed melanomas, nevi, Spitz nevi and atypical spitzoid tumors using parallel sequencing (exons of 611 genes and 507 gene translocation analysis) and methylation arrays (850k Illumina EPIC).
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- Melanoma has the highest mortality rate among skin cancers, although recent treatments have improved outcomes; various genetic mutations linked to better responses in other tumors were explored in this study.
- Researchers analyzed 116 melanoma samples with mutations, investigating their clinical and genetic features and examining treatment outcomes with statistical methods.
- Findings revealed that while most mutations were in cutaneous melanoma, there was no difference in survival or response to immunotherapy based on mutation type, suggesting these mutations are not reliable indicators of treatment success in melanoma, warranting further research.
Article Synopsis
- * Results indicated that tumors with TERT promoter mutations showed significantly improved progression-free survival (PFS) and overall survival (OS) compared to wild-type tumors in both the discovery and validation cohorts.
- * Median PFS for TERT promoter-mutant tumors was approximately 8.9 months, while wild-type tumors had a median of 5.5 months; OS was about 33.6 months for mutant vs. 17.0 months for wild-type.
Background: NF1-mutated tumours represent a small subset (10-15%) of melanomas, not sufficiently analysed in large clinical cohorts. This study investigated the largest multicentre collection of NF1-mutated melanomas to date.
Methods: This study analysed a multicentre tumour tissue sample cohort from 266 patients with NF1-mutated melanoma.
Accurate classification of melanocytic proliferations has important implications for prognostic prediction, treatment and follow-up. Although most melanocytic proliferations can be accurately classified using clinical and pathological criteria, classification (specifically distinction between nevus and melanoma) can be challenging in a subset of cases, including those with spitzoid morphology. Genetic studies have shown that mutation profiles differ between primary melanoma subtypes and Spitz nevi.
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