Molecular genetic testing in the management of pituitary disease

EC Coopmans, M Korbonits - Clinical endocrinology, 2022 - Wiley Online Library
Objective Most pituitary tumours occur sporadically without a genetically identifiable
germline abnormality, a small but increasing proportion present with a genetic defect that …

Genetic testing in hereditary pituitary tumors

G Akkuş, M Korbonits - Archives of Medical Research, 2023 - Elsevier
Genetic testing is becoming part of mainstream endocrinology. An increasing number of rare
and not-so-rare endocrine diseases have an identifiable genetic cause, either at the …

Characteristics of inflammatory and infectious diseases of the pituitary gland in patients undergoing transsphenoidal surgery

PV Naser, P Papadopoulou, J Teuber, S Kopf, J Jesser… - Pituitary, 2023 - Springer
Purpose Inflammatory and infectious diseases of the pituitary gland (IIPD) are rare lesions
often misdiagnosed preoperatively. Immediate surgery is indicated especially in cases of …

An update on the genetic drivers of corticotroph tumorigenesis

LC Hernández-Ramírez… - Experimental and …, 2024 - thieme-connect.com
The genetic landscape of corticotroph tumours of the pituitary gland has dramatically
changed over the last 10 years. Somatic changes in the USP8 gene account for the most …

The 2022 WHO classification of tumors of the pituitary gland: An update on aggressive and metastatic pituitary neuroendocrine tumors

O Casar‐Borota, P Burman, MB Lopes - Brain Pathology, 2024 - Wiley Online Library
The vast majority of pituitary neuroendocrine tumors (PitNETs) are benign and slow growing
with a low relapse rate over many years after surgical resection. However, about 40% are …

Pathogenic Insights into DNA Mismatch Repair (MMR) Genes–Proteins and Microsatellite Instability: Focus on Adrenocortical Carcinoma and Beyond

M Carsote, IF Turturea, MR Turturea, A Valea, C Nistor… - Diagnostics, 2023 - mdpi.com
DNA damage repair pathways, including mismatch repair (MMR) genes, are prone to
carcinoma development in certain patients. The assessment of the MMR system is widely …

Updates in neuroendocrine neoplasms: from mechanisms to the clinic

S Fodil-Cherif, R Desailloud, T Brue - Annales d'Endocrinologie, 2023 - Elsevier
Scientific advances constantly improve our understanding of the mechanisms underlying
tumorigenesis, allowing us now to analyze cancer in a more precise manner and to identify …

Germline mutations in young-onset sporadic pituitary macroadenomas: a multigene panel analysis

LM Gaspar, CI Gonçalves, EL Nobre, F Fonseca… - medRxiv, 2024 - medrxiv.org
Objective: Mutations in several genes have been associated with familial forms of pituitary
adenomas. Sporadic pituitary adenomas (ie with no family history or coexistent endocrine …

The use of quantitative pupillometry in patients with pituitary tumors: a technical note

P Lenga, M Jakobs, J Jesser, PD Trong… - Acta …, 2022 - Springer
Background Pituitary tumors may cause compression of the optic chiasm, resulting in
decreased visual acuity. Therefore, decompression of the optic chiasm is a major goal of …

[HTML][HTML] NOUVEAUTES EN ONCO-ENDOCRINOLOGIE: DES MECANISMES A LA CLINIQUE

S Fodil-Cherif, CHU de Montpellier - sfendocrino.org
Les avancées scientifiques ne cessent d'améliorer notre compréhension des mécanismes
tumoraux, nous permettant désormais d'analyser les pathologies tumorales de manière de …