EYES2023 ESE Young Endocrinologists and Scientists (EYES) 2023 Oral communication 4: Pituitary and Neuroendocrinology (8 abstracts)
Whole blood transcriptomic signature of Cushing’s syndrome
Maria Francesca Birtolo 1 , Roberta Armignacco 1 , Nesrine Benanteur 1 , Daniel De Murat 1 , Laurence Guignat 1 , Lionel Groussin 1 , Rossella Libé 1 , Franck Letourneur 2 , Jérôme Bertherat 1 , Anne Jouinot 1 & Guillaume Assié 1
1Université Paris Cité, Cnrs Umr8104, Inserm U1016, Institut Cochin, Genomics and Signaling of Endocrine Tumors, Paris, France; 2Université Paris Cité, Cnrs Umr8104, Inserm U1016, Institut Cochin.
Background: Cushing’s syndrome (CS) is associated with high morbidity and presents high interindividual variability. Easily measurable biomarkers, in addition to the hormone assays currently used for diagnosis, could better quantify the individual biological impact of glucocorticoids. The aim of this study is to identify such biomarkers through the analysis of whole blood transcriptome.
Methods: Whole blood transcriptome was evaluated in 57 samples (n=35 in the training cohort; n=22 in the validation cohort) classified in overt CS, mild CS, eucortisolism and adrenal insufficiency according to the clinical evaluation and 24-h urine-free cortisol. Total RNA was obtained from whole blood samples and sequenced on NovaSeq 6000 platform (Illumina). Both unsupervised (principal component analysis) and supervised (Limma) methods were used to explore transcriptome profile.
Results: the transcriptomic profile discriminates samples with overt Cushing syndrome. Genes most associated with overt Cushing syndrome are enriched in pathways related to immunity, particularly in neutrophil activation. A prediction model of 1500 genes built on the training cohort demonstrated its discriminating value in the validation cohort (accuracy 0.73) and remains significant in multivariate analysis including the neutrophil rate (P=0.002). The prediction based on FKBP5 alone, a gene involved in glucocorticoid receptor signaling and one of the most overexpressed in overt Cushing syndrome, is comparable to the predictor based on 1500 genes (accuracy 0.68).
Conclusion: whole blood transcriptome reflects the biological action of glucocorticoids. FKBP5 could be a non-hormonal marker of Cushing syndrome.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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