Kinome profiling reveals pathogenic variant specific protein signalling networks in MEN2 children with Medullary Thyroid Cancer [PDF]
Npj Precision OncologyMultiple Endocrine Neoplasia Type 2 (MEN2) is an autosomal dominant disease caused by pathogenic variants in the receptor tyrosine kinase RET, with strong genotype-phenotype correlations.
William Grey, C Swanton
exaly +3 more sources
Life, 2023 Background: Partial adrenalectomy (PA) is an alternative option to total adrenalectomy for the treatment of hereditary pheochromocytoma (PHEO) to preserve cortical function and avoid life-long steroid replacement.
Rocco Bellantone +2 more
exaly +3 more sources
An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2 [PDF]
DiseasesBackground: Primary hyperparathyroidism (PHPT) represents a multi-faced disease with a wide spectrum of manifestations. Familial forms of PHPT (affecting up to 10% of the cases) involve a particular category that encompasses a large range of hereditary ...
Ana-Maria Gheorghe +3 more
doaj +2 more sources
Five Advances in the Last 50 Years That Have Impacted Endocrine Surgery. [PDF]
World J SurgWorld Journal of Surgery, Volume 50, Issue 8, Page 2071-2076, August 2026.
Anneback M +5 more
europepmc +2 more sources
Coexistence of Multiple Endocrine Neoplasia Type 2B and Centri-Acinar Emphysema With Alpha-1 Antitrypsin Deficiency: A Case Report. [PDF]
Respirol Case RepWe report on a 32‐year‐old female patient with a very rare coexistence of alpha‐1 antitrypsin deficiency (AATD) and multiple endocrine neoplasia type 2B (MEN2B). Both conditions can affect breathing and may hide each other's symptoms, leading to delayed diagnosis.
Mohammadifard MJ +2 more
europepmc +2 more sources
Medullary thyroid carcinoma exclusively associated with a homozygous RET V778I pathogenic variant: a case report with review of literature [PDF]
Endocrine JournalMedullary thyroid carcinoma (MTC) can occur sporadically or as a hereditary disease. The latter often presents with a multiple endocrine neoplasia type 2 (MEN2) phenotype and is caused by germline-activating pathogenic variants in the RET proto-oncogene,
Minoru Kihara +2 more
doaj +2 more sources
Adrenal Medullary Hyperplasia Is a Precursor Lesion for Pheochromocytoma in MEN2 Syndrome
Neoplasia, 2014 Adrenal medullary hyperplasias (AMHs) are adrenal medullary proliferations with a size
Ronald de Krijger +2 more
exaly +3 more sources
Rare cases in two Chinese MEN2A families with RET C634Y germline mutation—a homozygous female patient and heterozygous identical twins: a systematic review of literature [PDF]
Frontiers in EndocrinologyBackgroundGermline RET-p.C634Y heterozygous mutations are predominant in MEN2A, but homozygous cases and MEN2A-affected identical twins remain poorly characterized.SummaryWe report two MEN2A families—a homozygous female patient and heterozygous male ...
Xiao-Ping Qi +13 more
doaj +2 more sources
A contemporary overview of multiple endocrine neoplasia syndromes: MEN syndromes 1–5 and beyond [PDF]
Endocrine OncologyMultiple endocrine neoplasia (MEN) syndromes constitute a heterogeneous group of hereditary disorders predisposing to endocrine tumours of varying malignant potential.
Raquel A Maggacis +5 more
doaj +2 more sources
GLP-1 Receptor Agonists for Obstructive Sleep Apnea: An Otolaryngologist's Prescription? [PDF]
LaryngoscopeThe Laryngoscope, Volume 136, Issue 6, Page 2406-2409, June 2026.
Zgardau A +3 more
europepmc +2 more sources