Abstract:
INTRODUCTION:Activating mutations of the BRAF oncogene are frequently detected in papillary thyroid carcinoma (PTC) and have been associated with a worse prognosis. The amino acid substitution V600E accounts for 90% of all oncogenic BRAF mutations and is typically detected in classic PTCs, whereas other less frequent BRAF mutations seem to be associated with other PTC histotypes. CASE:Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis. Since the identified BRAF mutation was novel in the literature, bioinformatic modeling was performed to predict its impact on BRAF activity. Although the mutation resulted in loss of a phosphorylation site in the activation loop of BRAF, it was predicted to increase BRAF kinase activity by mimicking an activating phosphorylation. CONCLUSIONS:This study, which reports a new BRAF mutation, highlights the usefulness of bioinformatic modeling in the prediction of functional effects of new mutations and indicates that mutation-specific screening tests might miss some rare BRAF mutations. These facts should be taken into consideration in the molecular diagnosis of thyroid cancer and in the design of therapeutic protocols based on inhibitors of the BRAF pathway.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Barzon L,Masi G,Boschin IM,Lavezzo E,Pacenti M,Casal Ide E,Toniato A,Toppo S,Palù G,Pelizzo MRdoi
10.1530/EJE-08-0239subject
Has Abstractpub_date
2008-07-01 00:00:00pages
77-80issue
1eissn
0804-4643issn
1479-683Xpii
EJE-08-0239journal_volume
159pub_type
杂志文章abstract:BACKGROUND:Sleep behavior is changing toward shorter sleep duration and a later chronotype. It results in a sleep debt that is acquitted on work-free days, inducing a small but recurrent sleep misalignment each week, referred to as "social jetlag". These sleep habits could affect health through misalignment with circad...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0188
更新日期:2016-11-01 00:00:00
abstract::Orthodenticle homolog 2 (OTX2) is a homeobox family transcription factor required for brain and eye formation. Various genetic alterations in OTX2 have been described, mostly in patients with severe ocular malformations. In order to expand the knowledge of the spectrum of OTX2 mutation, we performed OTX2 mutation scre...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-12-0333
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVE:Epigenetic changes contribute to pancreatic neuroendocrine tumor (PanNET) development. Hypermethylation of promoter DNA as a cause of tumor suppressor gene silencing is a well-established oncogenic mechanism that is potentially reversible and therefore an interesting therapeutic target. Multiple endocrine neo...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-18-0195
更新日期:2018-09-01 00:00:00
abstract::Differentiated thyroid cancer (DTC) is the most common endocrine cancer and its incidence has increased in recent decades. Initial treatment usually consists of total thyroidectomy followed by ablation of thyroid remnants by iodine-131. As thyroid cells are assumed to be the only source of thyroglobulin (Tg) in the hu...
journal_title:European journal of endocrinology
pub_type: 共识发展会议,杂志文章,评审
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abstract:OBJECTIVE:To estimate the incidence of nutritional rickets and the incidence and prevalence of hereditary rickets. DESIGN:Population-based retrospective cohort study based on a review of medical records. METHODS:Patients aged 0-14.9 years referred to or discharged from hospitals in southern Denmark from 1985 to 2005 ...
journal_title:European journal of endocrinology
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doi:10.1530/eje.1.02178
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:KLF7 encodes Krüppel-like factor (KLF) 7, a member of the KLF family of transcription factors, initially shown to play important roles in cellular development and differentiation, and reported to be specifically involved in adipogenesis. Several single nucleotide polymorphisms (SNPs) have been identified in K...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0688
更新日期:2009-04-01 00:00:00
abstract::Regulatory actions of angiotensin II (AngII), which is involved in the pathophysiology of hypertension and also participates in cell proliferation and cell differentiation, are mainly mediated by AngII type 1 (AT1) receptor. Recently, activating mutations of receptors causing hyperfunctioning endocrine diseases have b...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1370262
更新日期:1997-09-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-15-0338
更新日期:2015-08-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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更新日期:2012-07-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1320771
更新日期:1995-06-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1480073
更新日期:2003-01-01 00:00:00
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journal_title:European journal of endocrinology
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doi:10.1530/EJE-16-0559
更新日期:2017-05-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
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更新日期:2002-07-01 00:00:00
abstract:OBJECTIVE:To evaluate which tests are performed to diagnose hypercortisolism in patients included in the European Registry on Cushing's syndrome (ERCUSYN), and to examine if their use differs from the current guidelines. PATIENTS AND METHODS:We analyzed data on the diagnostic tests performed in 1341 patients with Cush...
journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-16-0967
更新日期:2017-05-01 00:00:00
abstract::The episodicity of 24 h GH release was studied in 18 patients with active acromegaly, 12 patients 7-10 days after pituitary surgery, 14 patients long after operation (3-17 years), and 21 healthy gender- and age-matched control subjects, using a recently introduced scale- and model-independent regularity statistic, app...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1380164
更新日期:1998-02-01 00:00:00
abstract::Previous work has examined potential links between the etiology of GH deficiency (GHD) and the baseline characteristics of the patients including biochemical and psychometric parameters. Using an update of the KIMS pharmaco-epidemiological database (Pfizer International Metabolic Database), we addressed the question h...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0273
更新日期:2009-11-01 00:00:00
abstract::It is well known that normal and mildly elevated luteinizing hormone (LH) levels induce increased activity of ovarian 17-hydroxylase and 17,20-lyase, the cytochrome P450cl7alpha (P450) enzymes. This leads to increased ovarian 17alpha-hydroxyprogesterone (17-OHP) and androstenedione production. In contrast, it has been...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1390304
更新日期:1998-09-01 00:00:00
abstract::Deflazacort is an oxazoline derivative of cortisone with presumably less serious side effects, but its effects on growth factors are unknown. The present experiments in Long Evans rats were carried out to investigate how deflazacort administration affected the growing rat, especially in relation to hepatic insulin-lik...
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pub_type: 杂志文章
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更新日期:1994-12-01 00:00:00
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更新日期:2016-12-01 00:00:00
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journal_title:European journal of endocrinology
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更新日期:1995-05-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02064
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:The fetus is most vulnerable to severe iodine deficiency and hypothyroidism during pregnancy. The effects of mild iodine deficiency and subclinical hypothyroidism are poorly known. The present study assesses the association between thyroid hormones (TH)s and urinary iodine concentration (UIC) in healthy pr...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0716
更新日期:2009-03-01 00:00:00
abstract::Maintenance of fluid homeostasis during periods of heightened physical stress can be best evaluated in humans using exercise as a model. Although it is well established that arginine vasopressin (AVP), aldosterone and atrial natriuretic peptide (ANP) are the principle hormones regulating fluid balance at rest, the pot...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0064
更新日期:2008-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420195
更新日期:2000-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
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更新日期:2014-02-04 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
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更新日期:2004-08-01 00:00:00
abstract::Dogs kept under controlled photoperiodic conditions of 12 h light and 12 h dark expressed a clear diurnal melatonin rhythm in the peripheral blood, with a swift peak restricted to the late part of the scotophase. The highest density of high-affinity, G-protein-linked 2-[125I]iodomelatonin binding sites was found in th...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1310191
更新日期:1994-08-01 00:00:00
abstract:BACKGROUND:Hyperprolactinemia has been reported to be associated with abnormalities of carbohydrate metabolism. The aim of this study was to evaluate the effects of hyperprolactinemia and bromocriptine (Brc) treatment on endothelial function, insulin sensitivity and inflammatory markers in pre-menopausal women. METHOD...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
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更新日期:2003-09-01 00:00:00
abstract:OBJECTIVE:In hyperthyroidism, tissue glucose disposal is increased to adapt to high energy demand. Our aim was to examine the regulation of glucose transporter (GLUT) isoforms by IGF-I in monocytes from patients with hyperthyroidism. DESIGN AND METHODS:Blood (20 ml) was drawn from 21 healthy and 10 hyperthyroid subjec...
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pub_type: 杂志文章
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更新日期:2008-03-01 00:00:00