Abstract:
:Genetic predictors of outcome are reviewed in the context of a disease--cancer--that can be (too) simplistically described as a 'successful, invasive clone of our own tissues'. Context has many faces that determine a thyroid cancer patient's outcome beyond the influence of genetic markers. There is also plenty of evidence on the prognostic meaning of the interplay between genetics and context/microenvironment factors (encapsulation, degree of invasion, staging, etc.). This review addresses only genetic alterations detected by molecular methods in surgically resected specimens, thus ruling out immunohistochemistry and (F)ISH, despite their crucial relevance as topographically oriented methods. For the sake of the discussion, well-differentiated carcinomas were divided into two main morphologic types: papillary carcinoma (classic and most variants) displaying BRAFV600E mutations and RET/papillary thyroid carcinoma rearrangements and the group of follicular patterned carcinomas that encompasses follicular carcinoma and the encapsulated form of follicular variant of papillary carcinoma, displaying RAS mutations and PAX8/PPARγ rearrangement. TERT promoter mutations have been recently described (and associated with distant metastases and reduced survival) in papillary and follicular carcinomas, as well as in poorly differentiated and undifferentiated carcinoma. TP53 mutations, previously thought to be restricted to less differentiated carcinomas, were also detected in papillary and follicular carcinoma and found to carry a guarded prognosis. Besides their putative importance for targeted therapies, the prognostic meaning of such mutations is discussed per se and in the setting of concurrent BRAF mutation.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Tavares C,Melo M,Cameselle-Teijeiro JM,Soares P,Sobrinho-Simões Mdoi
10.1530/EJE-15-0605subject
Has Abstractpub_date
2016-04-01 00:00:00pages
R117-26issue
4eissn
0804-4643issn
1479-683Xpii
EJE-15-0605journal_volume
174pub_type
杂志文章,评审abstract::We report on a 15-year-old girl who had presented with acute onset central diabetes insipidus at the age of 8 years; this was followed by growth failure due to acquired growth hormone deficiency. Initial magnetic resonance imaging showed a uniformly enlarged pituitary stalk and absence of posterior pituitary hyperinte...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1390635
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVES:High variability in clinical response to metformin is often observed in type 2 diabetes (T2D) patients, and it highlights the need for identification of genetic components affecting the efficiency of metformin therapy. Aim of this observational study is to evaluate the role of tagSNPs (tagging single nucleot...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0347
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:To investigate the long-term effects of antipsychotic (AP) treatment and AP-induced hyperprolactinemia on bone mineral density (BMD) and body composition in male adolescents with autism spectrum disorders (ASDs) and/or disruptive behavior disorder (DBD). DESIGN:Physically healthy 10- to 20-year-old boys with...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-12-0521
更新日期:2012-12-01 00:00:00
abstract:AIMS:Reported cure rates following trans-sphenoidal surgery for microprolactinoma are variable and recurrence rates in some series are high. We wished to examine the cure rate of trans-sphenoidal surgery for microprolactinoma, and to assess the long-term complications and recurrence rate. DESIGN:A retrospective review...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1400043
更新日期:1999-01-01 00:00:00
abstract::Cinacalcet HCl, an allosteric modulator of the calcium-sensing receptor (CaR), has recently been approved for the treatment of secondary hyperparathyroidism in patients with chronic kidney disease on dialysis, due to its suppressive effect on parathyroid hormone (PTH) secretion. Although cinacalcet's effects in patien...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02007
更新日期:2005-10-01 00:00:00
abstract:DESIGN:In order to characterize whether different degrees of adipose tissue storage may be associated with markers of early atherosclerosis, we evaluated oxidant-antioxidant status and inflammatory markers and determined carotid intima-media thickness (cIMT) in healthy constitutional lean and obese pre-pubertal childre...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0042
更新日期:2009-07-01 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
doi:10.1530/eje.0.1490187
更新日期:2003-09-01 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
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journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/eje.1.02126
更新日期:2006-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460519
更新日期:2002-04-01 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::In recent years, 2-[(18)F]-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography (FDG-PET/CT) has emerged as an important tool for the postoperative management of patients with differentiated thyroid cancer (DTC) and it is widely used in selected clinical situations. The most valuable role that FDG...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-15-0066
更新日期:2015-09-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1330025
更新日期:1995-07-01 00:00:00
abstract:OBJECTIVE:To study whether serum parathyroid hormone (PTH) and serum calcium are associated with body mass index (BMI), and their predicting role in obesity. DESIGN:Population based, cross-sectional study. METHODS:In 2001 a population-based health survey was held in Tromsø, North Norway. Questionnaires on medical his...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1510167
更新日期:2004-08-01 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-18-0596
更新日期:2019-01-01 00:00:00
abstract::Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS), arising from gain-of-function mutations in Gαs, and cutaneous skeletal hypophosphatemia syndrome (CSHS), arising from gain-of-function mutations in the Ras/MAPK pathway, are strikingly complex, mosaic diseases with overlapping phenotypes. Both disorders are defined ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-19-0969
更新日期:2020-05-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02108
更新日期:2006-05-01 00:00:00
abstract::Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal function...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-11-0497
更新日期:2012-02-01 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:2008-06-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1480559
更新日期:2003-05-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0639
更新日期:2016-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-1029
更新日期:2012-09-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-12-0073
更新日期:2012-08-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-1070
更新日期:2014-08-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/eje.0.1500133
更新日期:2004-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,meta分析
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更新日期:2010-09-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420131
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,评审
doi:10.1530/EJE-17-0054
更新日期:2017-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1360074
更新日期:1997-01-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1530/EJE-12-0934
更新日期:2013-03-15 00:00:00