Abstract：
:Papillary craniopharyngioma (PCP) is an intracranial tumor that results in high levels of morbidity. We recently demonstrated that the vast majority of these tumors harbor the oncogenic BRAF V600E mutation. The pathologic diagnosis of PCP can now be confirmed using mutation specific immunohistochemistry and targeted genetic testing. Treatment with targeted agents is now also a possibility in select situations. We recently reported a patient with a multiply recurrent PCP in whom targeting both BRAF and MEK resulted in a dramatic therapeutic response with a marked anti-tumor immune response. This work shows that activation of the MAPK pathway is the likely principal oncogenic driver of these tumors. We will now investigate the efficacy of this approach in a multicenter phase II clinical trial. Post-treatment resection samples will be monitored for the emergence of resistance mechanisms. Further advances in the non-invasive diagnosis of PCP by radiologic criteria and by cell-free DNA testing could someday allow neo-adjuvant therapy for this disease in select patient populations.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Brastianos PK,Santagata Sdoi
10.1530/EJE-15-0957subject
Has Abstractpub_date
2016-04-01 00:00:00pages
R139-44issue
4eissn
0804-4643issn
1479-683Xpii
EJE-15-0957journal_volume
174pub_type
杂志文章,评审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：OBJECTIVE:Disturbed renal function may play an important role in the clinico-pathological presentation of primary hyperparathyroidism (pHPT). We studied the influence of renal function on the clinico-pathological characteristics of 141 patients (123 women and 18 men) with surgically proven pHPT. METHODS:The 141 patien...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1480597
更新日期：2003-06-01 00:00:00
abstract：OBJECTIVE AND DESIGN:Based on our clinical experience with combined gene therapy of glioblastoma, we developed a retroviral vector expressing two therapeutic genes (i.e. thymidine kinase of herpes simplex virus, HSV-TK, and interleukin-2, IL-2) and evaluated its efficiency in vitro and in vivo. METHODS:Expression of t...
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
abstract：BACKGROUND:X-linked adrenoleukodystrophy (X-ALD) is the most frequent, severely neurodegenerative, clinically heterogeneous peroxisomal disorder, the signs of which are a consequence of myelin, adrenal cortex, and testes impairment. OBJECTIVE:We studied testosterone, LH, and FSH levels in X-ALD/adrenomyeloneuropathy (...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-11-0490
更新日期：2012-02-01 00:00:00
abstract：CONTEXT AND OBJECTIVE:Arterial stimulation and venous sampling (ASVS) is an important technique for localizing insulinoma. The principle behind ASVS is that insulin secretion is promoted from insulinoma cells by the injection of calcium into the insulinoma-feeding artery. However, the mechanism for ASVS-induced insulin...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-08-0069
更新日期：2008-07-01 00:00:00
abstract：:The reduced activity of the growth hormone (GH)-insulin-like growth factor I (IGF-I) axis in aging may contribute to changes in body composition. As this GH insufficiency is due to hypothalamic pathogenesis, the availability of GH-releasing peptides (GHRPs), such as GHRP-6 (His-D-Trp-Ala-Trp-D-Phe-Lys-NH2) which is ac...
journal_title：European journal of endocrinology
pub_type： 临床试验,杂志文章
doi：10.1530/eje.0.1310499
更新日期：1994-11-01 00:00:00
abstract：AIM:To describe volumes of orbital fat (FV) and extraocular muscles (MV) in Graves' orbitopathy (GO) as a function of the duration of GO. PATIENTS:i) Cross-sectional survey among 95 consecutive patients with untreated GO who had been referred to the combined thyroid-eye clinics of our university hospital. ii) Longitud...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-14-1140
更新日期：2015-08-01 00:00:00
abstract：:The recent discovery that functional brown adipose tissue (BAT) persists in adult humans has enkindled a renaissance in metabolic research, with a view of harnessing its thermogenic capacity to combat obesity. This review focuses on the advances in the regulation and the metabolic significance of BAT in humans. BAT ac...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-15-1217
更新日期：2016-07-01 00:00:00
abstract：:Glucose transporter-1 (GLUT1) has been found in high abundance in human placentas. The purpose of this study was to analyze the changes in the level of GLUT1 during pregnancy. We have analyzed the gestational changes in human placental GLUT1 by [3H]cytochalasin B binding assay, immunoblot analysis and Northern blot an...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1320206
更新日期：1995-02-01 00:00:00
abstract：:For many years, it has been well documented that combined hormonal contraceptives increase the risk of venous thromboembolism (VTE). The third-generation pill use (desogestrel or gestodene (GSD)) is associated with an increased VTE risk as compared with second-generation (levonorgestrel) pill use. Other progestins suc...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-14-0527
更新日期：2014-12-01 00:00:00
abstract：:Retinoids seem to act as agents of chemoprevention and differentiation in breast diseases. Their action is mediated by nuclear receptors, retinoic acid receptors (RAR alpha, RAR beta, RAR gamma) and retinoid X receptors (RXR alpha, RXR beta, RXR gamma) and modulated by cellular retinol binding proteins (CRBP). There a...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1370410
更新日期：1997-10-01 00:00:00
abstract：:Sex hormone-binding globulin (SHBG) and corticosteroid-binding globulin (CBG) levels were evaluated in euthyroid (N = 111), hyper- (N = 58) and hypothyroid (N = 38) men, in pre- and postmenopausal women (study 1) and in hyper- (N = 24) and hypothyroid (N = 15) patients before and after treatment with carbimazole or le...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1320594
更新日期：1995-05-01 00:00:00
abstract：OBJECTIVE:In Cushing's disease (CD), GH responsiveness to several stimuli, including ghrelin, GHRP-6, and GHRH, is blunted. Recovery of GH secretion after remission of hypercortisolism after transsphenoidal surgery, radiotherapy, or adrenalectomy is controversial. There are no studies evaluating the effect of primary c...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-09-0459
更新日期：2009-11-01 00:00:00
abstract：OBJECTIVES:Gel filtration chromatography (GFC), the gold standard for macroprolactinaemia (MPRL) diagnosis, is a slow, costly and labour-intensive method. To limit the number of GFC required, we evaluated two screening tests for MPRL: prolactin (PRL) recovery after polyethylene glycol (PEG) precipitation and PRL concen...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-14-1073
更新日期：2015-06-01 00:00:00
abstract：OBJECTIVE:The alpha(2)-adrenergic receptors are involved in the effects of catecholamines on energy metabolism. Of three known subtypes with differential expression, alpha(2A)-adrenergic receptors are also localized in adipose tissue where they counteract the lipolytic activity of beta-adrenergic receptors. This study ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1440291
更新日期：2001-03-01 00:00:00
abstract：CONTEXT:Acromegaly is a rare disease associated with chronic multisystem complications. National registries have been created in several countries. DESIGN:The French Registry contains data on acromegaly epidemiology, management and comorbidities recorded over more than three decades, retrospectively until 1999 and pro...
journal_title：European journal of endocrinology
pub_type： 杂志文章,多中心研究
doi：10.1530/EJE-16-1064
更新日期：2017-05-01 00:00:00
abstract：OBJECTIVE:Postmenopausal estradiol (E(2)) levels vary widely between individuals and this variation is an important determinant of diseases such as osteoporosis. It has been suggested that the estrogen receptor alpha (ESR1) gene may influence peripheral E(2) levels, but the role of common sequence variations in the ESR...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.1.01973
更新日期：2005-08-01 00:00:00
abstract：:The aim of this study was to assess the usefulness of ketoconazole as a therapeutic alternative to polycystic ovary syndrome. The study group comprised 37 women with signs of hyperandrogenism (hirsutism, acne) and oligomenorrhea. A low dose (400 mg/day) of ketoconazole was tested in a 9-month prospective clinical stud...
journal_title：European journal of endocrinology
pub_type： 临床试验,杂志文章
doi：10.1530/eje.0.1300333
更新日期：1994-04-01 00:00:00
abstract：:Two experiments were conducted to determine the patterns of LH secretion and to evaluate the LH responses to pulsatile administration of GnRH during early pregnancy in ewes. In experiment 1, pregnant ewes (n=16) were used to determine the concentration of LH in plasma of jugular blood samples collected every 15 min fo...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1410521
更新日期：1999-11-01 00:00:00
abstract：OBJECTIVE:The treatment of children with subclinical hypothyroidism (SH) is controversial for TSH values between 4.5 and 10 mU/l. The aim of this cross-sectional, controlled study was to evaluate growth and intellectual outcome in children with persistent SH who have never been treated with levothyroxine. DESIGN AND M...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-10-0979
更新日期：2011-04-01 00:00:00
abstract：OBJECTIVE:Transient neonatal hyperthyrotropinemia (TNH) is defined as a neonatal abnormality of thyroid function, which reverts to normal at re-examination after 2 weeks of life. The thyroid function of these infants has not been sufficiently studied in terms of the risk of developing persistent hyperthyrotropinemia (P...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-13-0907
更新日期：2015-04-01 00:00:00
abstract：:Giant prolactinomas are rare tumours, representing only 2-3% of all prolactin (PRL)-secreting tumours and raising special diagnostic and therapeutic challenges. Based on several considerations developed in this review, their definition should be restricted to pituitary adenomas with a diameter of 40 mm or more, signi...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-14-0013
更新日期：2014-06-01 00:00:00
abstract：:In many centres, a test dose (TD) of octreotide is administered before commencing somatostatin analogue therapy (SAT), although the merits of this procedure are uncertain. We have analysed the value of the GH response to a TD in predicting the efficacy of subsequent SAT in 47 patients with acromegaly (25 male, median ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.1.02073
更新日期：2006-02-01 00:00:00
abstract：BACKGROUND:Neutrophil gelatinase-associated lipocalin (NGAL) and matrix metalloproteinase-9 (MMP-9) have been considered as important mediators of vascular remodeling and plaque instability. The formation of a complex with NGAL and MMP-9 is crucial for atherotic plaque erosion and thrombus formation. In women with poly...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-07-0822
更新日期：2008-04-01 00:00:00
abstract：BACKGROUND:Primary aldosteronism (PA) is the most common form of secondary hypertension, while Gitelman's syndrome (GS) is the most common inherited renal tubular disease. However, coexistence of these two diseases has never been previously reported. AIM AND SUBJECTS: The aim of our study was to describe the associatio...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-09-0271
更新日期：2009-08-01 00:00:00
abstract：:In vitro studies indicate a physiological role for insulin-like growth factor I (IGF-I) in paracrine regulation of testicular function and recent clinical studies suggest a potential role for growth hormone (GH) and/or IGF-I in the treatment of hypogonadotrophic states in males. This study aimed to examine the effects...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1310405
更新日期：1994-10-01 00:00:00
abstract：:Bone loss due to menopause, natural or artificial, has been attributed solely to low estrogen. However, in a woman's life, the most precipitous bone loss begins 2 years prior to the last menstrual period, during which time estrogen levels are unperturbed whereas FSH is elevated. Our cell-based and mouse genetic studie...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-10-0397
更新日期：2010-07-01 00:00:00
abstract：:123I-metaiodobenzylguanidine (123I-MIBG) scintigraphy scanning is commonly used in the imaging of phaeochromocytoma (and paraganglioma) to confirm the site of disease and whether any spread has occurred. However, 123I-MIBG imaging is negative in 15% of cases of benign phaeochromocytoma and around 50% of cases of malig...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-07-0369
更新日期：2007-10-01 00:00:00
abstract：:The present study focuses on the pathogenesis of increased frequency of large-vessel disease in diabetes. The diabetic arterial wall displays characteristic alterations of the extracellular matrix secreted by arterial smooth-muscle cells. The effects of insulin and growth hormone on the synthesis of sulphate-labelled ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1340326
更新日期：1996-03-01 00:00:00
abstract：:Hypothyroidism is associated with increased morbidity from cardiovascular disease, and an increase in serum osteoprotegerin (OPG) has recently been reported to be associated with the severity of coronary heart disease and cardiovascular mortality. The present study was designed to examine whether hypothyroidism causes...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.1.01870
更新日期：2005-03-01 00:00:00
