Endocrine Abstracts

Rationale and aim: A recent pangenomic study documented a subset of somatotroph mostly GNAS-wildtype PitNET/adenomas co-express steroidogenic factor 1 (SF1). Aim of our study was to investigate clinical and molecular features of a cohort of these tumour subtype. Study sample: We identified 20 cases of SF1-expressing somatotropinomas out of 173 (11.6%) operated via transsphenoidal endoscopic approach in 3 referral Pituitary Centers patients. Pre- and post...

Pituitary adenomas, now called pituitary neuroendocrine tumors (PitNETs), vary in histological type, secretion, invasion and growth speed. A World Health Organization (WHO) histo-prognostic classification was released in 2017. Pituitary tumorigenesis is largely unexplained. Rare germline mutations (MENIN, AIP), and common somatic mutations in somatotroph (GNAS) and corticotroph (USP8) are reported. Recently, genomic analyses have been report...

The 2017 World Health Organization (WHO) classification of pituitary adenomas is based on cell lineage and transcription factors (TFs). Pituitary progenitors expressing Pit-1 are driven towards the somato-lacto-thyrotroph differentiation, T-Pit towards corticotroph, and SF-1 towards gonadotroph. We recently generated a multi-genomic classification of pituitary neuroendocrine tumors (PitNETs) (abstract submitted to ECE2019 by Neou M.). Transcriptome classification identified si...

Corticotroph Pituitary Neuroendocrine Tumours (Co-PitNETs) show significant differences in cortisol secretion, responses to existing therapies and gene expression andstill pose a challenge for patient management.Aim: to explore possible novel therapeutic targets in Co-PitNETs (functioning and silent) through transcriptome analysis (RNA sequencing) and immunohistochemistry. Methods: Transcriptomic data from a previously reported dat...

PAM encodes a multifunctional protein recognized as an important regulator of hormone amidation and secretion. Since PAM germline mutations have been recently identified in patients with PitNETs, it has been proposed as a candidate gene associated with pituitary hypersecretion.Aim: To characterize PAM expression in a large cohort of PitNETs through immunohistochemistry and transcriptome analysis (RNA sequencing).M...

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: Papillary craniopharyngiomas (PCPs) are driven by V600E BRAF mutations in 95% of cases. Recently, combined anti-BRAF/MEK targeted therapy (TT) has emerged as a potential treatment in aggressive PCPs. However, standardized data on large cohorts are still lacking. Our study aimed to assess the real-life efficacy and safety of TT in patients with PCPs.Methods: This was a retrospective national multicenter study involving patients with V600E BRAF...