Epidemiology of craniopharyngiomas: a population-based study in Malta [0.03%]
马耳他颅咽管瘤的流行病学特征：基于人口的研究
Sarah Craus,Mark Gruppetta
Sarah Craus
Background: Despite being benign tumours, craniopharyngiomas are challenging to manage and can cause significant morbidity and mortality in both the paediatric and adult population. The aim of the study was to analyse the...
Edward P Gelmann
Edward P Gelmann
cfDNA in pancreatic neuroendocrine carcinoma management with Cushing's syndrome [0.03%]
用于库欣综合征胰腺神经内分泌癌管理的 cfDNA
Laura Gerard,David Barthelemy,Arnaud Gauthier et al.
Laura Gerard et al.
Summary: We report a case of metastatic pancreatic neuroendocrine carcinoma associated with paraneoplastic Cushing's syndrome, successively treated with five lines of treatment (platin-etoposide, LV5FU2-dacarbazine, FOLFI...
FOXE1 polymorphism rs965513 predisposes to thyroid cancer in a European cohort [0.03%]
FOXE1基因多态性rs965513位点使欧洲人群易患甲状腺癌
Patrick W Owens,Terri Patricia McVeigh,Nicola Miller et al.
Patrick W Owens et al.
Objective: FOXE1 is an intronless gene on chromosome 9 which plays a significant role in thyroid morphogenesis. Mutations in FOXE1 are associated with thyroid phenotypes including congenital hypothyroidism, thyroid dysgen...
The role of DNA methylation in human pancreatic neuroendocrine tumours [0.03%]
DNA甲基化在人类胰腺神经内分泌肿瘤中的作用
Katherine A English,Rajesh V Thakker,Kate E Lines
Katherine A English
Pancreatic neuroendocrine tumours (PNETs) are the second most common pancreatic tumour. However, relatively little is known about their tumourigenic drivers, other than mutations involving the multiple endocrine neoplasia 1 (MEN1), ATRX chr...
Nele F Lenders,Peter E Earls,Warrick J Inder et al.
Nele F Lenders et al.
Objective: Pituitary tumours comprise a pathologically and clinically diverse group of neoplasms. Classification frameworks have changed dramatically in the past two decades, reflecting improving understanding of tumour b...
Clinical presentation of sporadic and hereditary pheochromocytoma/paraganglioma [0.03%]
散发性和遗传性嗜铬细胞瘤/副神经瘤的临床特征分析
Sofia Maria Lider Burciulescu,Caren Randon,Frederic Duprez et al.
Sofia Maria Lider Burciulescu et al.
Pheochromocytomas (PHEO) and paragangliomas (PGL) can occur sporadic or within genetic predisposition syndromes. Despite shared embryology, there are important differences between PHEO and PGL. The aim of this study was to describe the clin...
Ectopic ACTH Cushing's syndrome caused by a large-cell neuroendocrine lung carcinoma responding to desmopressin [0.03%]
大细胞神经内分泌肺癌所致异位ACTH库欣综合征对精氨酸加压素治疗有效
Stéphanie Larose,Dany Rioux,Roula Albadine et al.
Stéphanie Larose et al.
Ectopic adrenocorticotrophic hormone (ACTH) secretion (EAS) is a rare cause of ACTH-dependent Cushing's syndrome (CS), most often caused by a thoracic neuroendocrine tumor (NET). Large-cell neuroendocrine carcinomas (LCNEC) with EAS are rar...
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'? [0.03%]
琥珀酸脱氢酶变异与副神经节瘤的关系：为什么B亚基变异是“有害”的？
Lucinda M Gruber,Steven N Hart,Louis James Maher Iii
Lucinda M Gruber
Mutations that predispose to familial pheochromocytoma and paraganglioma include inherited variants in the four genes (SDHA, SDHB, SDHC and SDHD) encoding subunits of succinate dehydrogenase (SDH), an enzyme of the mitochondrial tricarboxyl...
The role of serotonin inhibition within the treatment of carcinoid syndrome [0.03%]
血清素抑制在类癌综合征治疗中的作用
Joel George,John Ramage,Benjamin White et al.
Joel George et al.
Carcinoid syndrome is the most frequent hormonal complication associated with neuroendocrine neoplasms. It was first reported in 1954, and the classical symptoms are diarrhoea, flushing and abdominal pain. It is caused by the secretion of s...