Publications by authors named "Mario Neou"
Objective: Cushing's syndrome represents a state of excessive glucocorticoids related to glucocorticoid treatments or to endogenous hypercortisolism. Cushing's syndrome is associated with high morbidity, with significant inter-individual variability. Likewise, adrenal insufficiency is a life-threatening condition of cortisol deprivation.
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- The study characterizes benign adrenal tumors by analyzing 146 samples through various genomic methods, aiming to create an unbiased classification system and understand their pathophysiology better.
- Four distinct molecular categories of tumors were identified, including those causing Cushing syndrome and distinct adenomas associated with specific mutations, revealing insights into shared pathways and expressions.
- Findings suggest significant epigenetic alterations linked to steroid hormone production, the presence of subclonal mutations, and new implications for research on adrenal tumors, laying groundwork for future investigations.
Background: The prognosis of adrenocortical carcinoma (ACC) is heterogeneous. Genomic studies have identified ACC subgroups characterized by specific molecular alterations, including features measured at DNA level (somatic mutations, chromosome alterations, DNA methylation), which are closely associated with outcome. The aim of this study was to evaluate intratumor heterogeneity of prognostic molecular markers at the DNA level.
View Article and Find Full Text PDFPituitary neuroendocrine tumors (PitNETs) are common, with five main histological subtypes: lactotroph, somatotroph, and thyrotroph (POU1F1/PIT1 lineage); corticotroph (TBX19/TPIT lineage); and gonadotroph (NR5A1/SF1 lineage). We report a comprehensive pangenomic classification of PitNETs. PitNETs from POU1F1/PIT1 lineage showed an epigenetic signature of diffuse DNA hypomethylation, with transposable elements expression and chromosomal instability (except for GNAS-mutated somatotrophs).
View Article and Find Full Text PDFImportance: The risk stratification of adrenocortical carcinoma (ACC) based on tumor proliferation index and stage is limited. Adjuvant therapy after surgery is recommended for most patients. Pan-genomic studies have identified distinct molecular groups closely associated with outcome.
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- Pangenomic studies have identified different molecular classes in various cancers, but making these analyses cost-effective for routine clinical use is essential.
- This research evaluated targeted next-generation sequencing (NGS) for detecting chromosomal alterations and DNA methylation in tumor samples, finding strong correlation with established methods.
- The newly developed TARGOMICs showed promising sensitivity and specificity for identifying chromosomal changes and methylation status, suggesting that this optimized NGS method can enhance the clinical application of genomics in cancer diagnosis and treatment.
The cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for mutations.
View Article and Find Full Text PDFContext: Adrenocortical cancer (ACC) is an aggressive tumor with a heterogeneous outcome. Prognostic stratification is difficult even based on tumor stage and Ki67. Recently integrated genomics studies have demonstrated that CpG islands hypermethylation is correlated with poor survival.
View Article and Find Full Text PDFBackground: The genus Legionella comprises over 60 species. However, L. pneumophila and L.
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