Journal: Therapeutic Advances in Medical Oncology
Article Title: Lineage infidelity in FH-deficient RCC with secondary somatic alterations: a case report and implications for diagnosis and treatment
doi: 10.1177/17588359261456676
Figure Lengend Snippet: Transcriptomic profiling of the pretreatment biopsy sample. RNA-seq was used to obtain gene expression profiles of tumor samples. A global embedding of cancer types was calculated by transforming these gene expression profiles using PCA, followed by a t-SNE transformation to obtain a 2-dimensional approximate “map” of transcriptional similarity. The new patient sample is projected onto a pre-calculated PCA embedding space based on historical samples analyzed at Caris. Its proximity to other samples on the map reflects shared transcriptional programs with these samples. Only the immediate neighborhoods of samples should be considered for further interpretation since t-SNE embeddings do not preserve similarity correlations over long distances. Each point on the t-SNE map represents a different sample. The target symbol represents the present patient’s pretreatment biopsy sample. PCA, principal component analysis; t-SNE, t-stochastic neighbor embedding.
Article Snippet: To confirm the diagnosis, molecular testing (next-generation sequencing (NGS); whole exome and whole transcriptome sequencing, Caris Life Sciences (Irving, Texas, United States)) revealed an S419P mutation in the FH gene, along with pathogenic mutations in KMT2A , NF2 , and TP53 , discussed in greater detail below.
Techniques: RNA Sequencing, Gene Expression, Transformation Assay