Diagnosis and Pathogenesis of Adrenal Tumors-Diagnosis and Pathogenesis of Adrenal Tumors

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Video Summary

The symposium focused on the diagnosis and pathogenesis of adrenal tumors. The first speaker, Andre Lacroix, introduced the session and the first speaker, Charlotte Ducy-Lepoutre, who presented on the use of H1MR spectroscopy as a test for metabolic evaluation of pheochromocytoma and paraganglioma. Charlotte discussed the role of germline mutations in these tumors and the detection of succinate accumulation as a specific marker for SDH mutated tumors. She presented results from a study using special sequence spectroscopy on mouse models and patients with SDH mutations, demonstrating the ability to detect succinate accumulation in tumors. She also discussed the potential use of succinate exploration as a biomarker for treatment evaluation. The second speaker, Julie Raggi, presented on genomic and transcriptomic analysis of archival adrenal cushing tissue. She discussed the use of whole-exome sequencing to identify somatic mutations in adrenocortical tumors, including mutations in PRKACA, GNAS, and beta-catenin. She also described the use of RNA sequencing to investigate the transcriptomic profiles of NAPA, and the identification of novel cell clusters and gene expression patterns. The final speaker, Christina Honk, presented on new pathogenic insights from genetic screening of adrenocortical tumors. She discussed the use of single-cell RNA sequencing to characterize the cellular heterogeneity of adrenocortical tumors and identify potential drivers of tumorigenesis. She described the identification of specific cell clusters in normal adrenal glands, as well as adenomas, and the potential role of these clusters in early tumor development. The speakers' presentations provided valuable insights into the diagnosis and pathogenesis of adrenal tumors, highlighting the potential for advanced genomic and transcriptomic analysis to improve understanding and treatment of these diseases.

Keywords

adrenal tumors

H1MR spectroscopy

succinate accumulation

SDH mutated tumors

succinate exploration

genomic analysis

transcriptomic analysis

whole-exome sequencing

somatic mutations

RNA sequencing

cell clusters

single-cell RNA sequencing


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