Endocrine Abstracts

Endocrine-Related Cancer 2014 21 567–577. DOI: 10.1530/ERC-14-0254...

Introduction: Adrenocortical carcinoma (ACC) is an aggressive malignancy with a high rate of recurrence. Regular post-operative follow-up imaging is necessary, but associated with high radiation exposure and frequent diagnostic ambiguity. Urine steroid metabolomics has recently been introduced as a novel diagnostic tool for the detection of adrenocortical malignancy in patients with adrenal incidentalomas. Here we present the first clinical study assessing the performance of t...

Introduction: Germline inactivating mutations of the protein kinase A (PKA) regulatory subunit RIα (the PRKAR1A gene) cause primary pigmented nodular adrenocortical disease (PPNAD); other cyclic AMP (cAMP) signalling defects have been associated with bilateral adrenocortical hyperplasia (BAH), cortisol-producing adenoma (CPA) and related lesions. Recently, PRKACA somatic mutations were detected in single, sporadic CPAs in approximately 40% of patients wi...

Recently, we provided the first integrated genomic classification of pituitary neuroendocrine tumors (PitNETs), on a series of 134 tumors. This series covered all histological, secretion, invasion and growth speed types. This molecular classification supports the importance of pituitary lineage as proposed by the World Health Organization 2017 classification, but also individualizes new entities. Indeed, corticotroph tumors are split into three distinct molecular groups. In ad...

Background: Adrenocortical cancer (ACC) is an aggressive tumor with heterogeneous prognosis. Previous genomic studies have demonstrated the importance of molecular classification for the prognostic assessment. Among molecular markers, transcriptome profiles “C1A” (steroid and proliferative signature) and “C1B” (immune signature) show the strongest association with outcome. However these markers are determined so far only from frozen tissue samples, sinc...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) are benign adrenocortical disease responsible for benign tumors and cortisol autonomous secretion. There is a broad spectrum of clinical, imaging and hormonal presentations. Aberrant membrane receptor expression is frequent, the most characteristic example being the food dependent Cushing syndrome due to ectopic expression of the GIP receptor (GIP-R). In 20 to 25 % of these patients, inactivating heterozy...

Propose: To screen for the presence of putative targets for new treatments in a large cohort of advanced adrenocortical cancer (ACC)Experimental design: In 40 adult stage III-IV ACC primary samples, we used comparative genomic hybridization (CGH) and hotspot gene sequencing (with Ion Torrent) to describe the presence of copy number abnormalities and mutations in more than 40 genes involved in cancer development and putative drug sensitivity (HER2; EGFR; ...

Benign adrenal tumors correspond to a spectrum of distinct tumors, including uni- and bilateral diseases with distinct morphological features, and various steroid hormone secretion types and levels. The aim is to study this variability at the molecular level using pan-genomic approaches.Methods: One hundred and forty six benign adrenal tumors, including adrenocortical adenomas (ACA, N=), primary macronodular adrenal hyperplasia (PMAH, N=), and primary pi...

Background: Constitutional duplications of the PRKACA gene locus have been described as responsible for adrenal Cushing’s disease.The objective here was to evaluate the results of its systematic screening in bilateral adrenal nodular disease and to specify the associated phenotype.Methods: Between 2020 and 2023, 440 consecutive index cases with macronodular or micronodular adrenal hyperplasia or Carney Complex (CNC) w...

An initial multi-omics analysis of PitNETs has refined histological classifications, and could improve diagnostic and prognostic assessment (Neou, Cancer Cell 2020). Of all omics, transcriptome best discriminates between these different classes. This molecular classification has been built upon frozen samples, which are difficult to use in routine clinical practice.Aim: Demonstrate the feasibility of measuring the transcriptome in Formalin-Fixed Paraffin...