Publications by authors named "R Libe"
Purpose: Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing's syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal and morphological levels. ARMC5 inactivating pathogenic variants are causative of PBMAH and rare variants of PDE11A have been associated with PBMAH.
Methods: Leukocyte DNA of 354 PBMAH index cases was sequenced for ARMC5 and PDE11A genes by Next generation sequencing (NGS).
Article Synopsis
- This study aimed to improve the identification of malignancy risk and genetic status in patients with primary paraganglioma or pheochromocytoma (PPGL) by assessing various biomarkers.
- Conducted over four years with 231 patients, the study found that tumor analysis was better than germline testing for determining genetic status, with specific biomarkers like plasma succinate levels and miR-483-5p showing promise in predicting metastasis.
- The combination of biomarkers, such as SDHB immunostaining and TERT promoter methylation, significantly enhanced the predictive accuracy for both SDHx genetic status and metastatic potential.
Purpose: Mitotane is the only approved treatment for metastatic adrenocortical carcinoma (ACC). Monitoring plasma levels is recommended, but its predictive value is insufficient.
Methods: This prospective study of the French ENDOCAN-COMETE network aimed to investigate the prognostic role of plasma mitotane levels pharmacokinetics and free or bound to lipoprotein fraction measurements during six consecutive months.
Article Synopsis
- The study aims to identify easily measurable biomarkers that reflect the biological effects of glucocorticoids in patients with Cushing's syndrome through whole blood transcriptome analysis.
- It analyzed transcriptomic profiles from blood samples of different patient groups, creating a prediction model that effectively distinguishes between those with overt Cushing's syndrome and other conditions.
- Findings indicate that the transcriptome can indicate glucocorticoid levels, with FKBP5 expression showing potential as a nonhormonal marker for diagnosing Cushing's syndrome.