Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: clinical opportunities.

Abstract:

:The ground-breaking discovery of genotype-phenotype relationships in hereditary medullary thyroid cancer has greatly facilitated early prophylactic thyroidectomy. Its timing depends not solely on a positive gene test but, more importantly, on the type of the REarranged during Transfection (RET) mutation and its underlying mode of RET receptor tyrosine kinase activation. In the past decade, the therapeutic corridor opened by molecular information has been defined down to a remarkable level of detail. Based on mutational risk profiles, preemptive thyroidectomy is recommended at 6 months of age for carriers of highest-risk mutations, before the age of 5 years for carriers of high-risk mutations, and before the age of 5 or 10 years for carriers of least-high-risk mutations. Additional lymph node dissection may not be needed in the absence of increased preoperative basal calcitonin levels. Better comprehension of RET function should enable the design of targeted therapies for RET carriers beyond surgical cure in whom the DNA-based 'window of opportunity' has been missed.

journal_name

J Intern Med

authors

Machens A,Lorenz K,Dralle H

doi

10.1111/j.1365-2796.2009.02113.x

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

114-25

issue

1

eissn

0954-6820

issn

1365-2796

pii

JIM2113

journal_volume

266

pub_type

杂志文章,评审
  • Intra-abdominal abscess in a patient with tumour necrosis factor receptor-associated periodic syndrome.

    abstract::Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disorder characterized by periodic attacks of fever and inflammation, due to mutations in the gene coding for the TNF type I receptor (TNFRSF1A). A 16-year-old patient with the diagnosis of TRAPS was admitted to hospital ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2005.01601.x

    authors: Stjernberg-Salmela S,Kivisaari A,Puolakkainen P,Färkkilä M,Kemppainen E,Ranki A,Pettersson T

    更新日期:2006-02-01 00:00:00

  • Imbalance between endothelial injury and repair in patients with polymyalgia rheumatica: improvement with corticosteroid treatment.

    abstract:OBJECTIVES:Polymyalgia rheumatica (PMR) is a rheumatic disease that is characterized by intense activation of systemic inflammation. Systemic inflammation has been associated with an imbalance between endothelial injury and repair, defined by an increased number of circulating endothelial microparticles (EMPs) and a re...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2011.02510.x

    authors: Pirro M,Bocci EB,Di Filippo F,Schillaci G,Mannarino MR,Bagaglia F,Gerli R,Mannarino E

    更新日期:2012-08-01 00:00:00

  • Lower tocopherol serum levels in subjects with abdominal adiposity.

    abstract:OBJECTIVES:Peroxidation of lipoproteins may be of critical importance in the development of atherosclerosis. Tocopherol is considered to be the most effective lipid-soluble antioxidant. The main aim of this study was to measure the serum tocopherol concentrations in a Swedish reference population and to relate them to ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1993.tb00704.x

    authors: Ohrvall M,Tengblad S,Vessby B

    更新日期:1993-07-01 00:00:00

  • Septic arthritis with Listeria monocytogenes during low-dose methotrexate.

    abstract::We describe a 22-year-old female with systemic lupus erythematosus and lymphopenia, who developed septic arthritis of the right knee with Listeria monocytogenes type 1/2 A, whilst on low-dose methotrexate (MTX). So far, septic arthritis due to this microorganism has been reported in two other patients treated with low...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2796.1998.00311.x

    authors: Jansen TL,van Heereveld HA,Laan RF,Barrera P,van de Putte LB

    更新日期:1998-07-01 00:00:00

  • Antibodies to platelet-activating factor are associated with borderline hypertension, early atherosclerosis and the metabolic syndrome.

    abstract:OBJECTIVE:Platelet-activating factor (PAF) is a phospholipid inflammatory mediator which is synthesized by a variety of cells, including monocytes and endothelial cells, and PAF can be retained in activated endothelial cell membranes. Furthermore, PAF-like lipids are produced in other phospholipid membranes as in oxidi...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.1999.00570.x

    authors: Wu R,Lemne C,De Faire U,Frostegârd J

    更新日期:1999-10-01 00:00:00

  • Survival and trends of occurrence of left ventricular hypertrophy, gender differences, 1967-92: The Reykjavik Study.

    abstract:OBJECTIVE:We estimated the prevalence, incidence and risk factors of left ventricular hypertrophy (LVH) in a prospective cohort study of 26 489 participants. MATERIAL AND METHODS:The LVH was defined as Minnesota Code 310 on electrocardiogram (ECG). Everyone with this code at first visit was defined as a prevalence cas...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.2003.01111.x

    authors: Thrainsdottir IS,Hardarson T,Thorgeirsson G,Sigvaldason H,Sigfusson N

    更新日期:2003-04-01 00:00:00

  • The rationale for using apoA-I as a clinical marker of cardiovascular risk.

    abstract::An inverse relationship between the concentration of high-density lipoprotein (HDL) cholesterol and the risk of developing cardiovascular is well established. There are several documented functions of HDLs that may contribute to a protective role of these lipoproteins. These include the ability of HDLs to promote the ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2006.01647.x

    authors: Barter PJ,Rye KA

    更新日期:2006-05-01 00:00:00

  • The Swedish Twin Registry: a unique resource for clinical, epidemiological and genetic studies.

    abstract::The Swedish Twin Registry (STR), which today has developed into a unique resource, was first established in the late 1950s to study the importance of smoking and alcohol consumption on cancer and cardiovascular diseases whilst controlling for genetic propensity to disease. Since that time, the Registry has been expand...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2796.2002.01032.x

    authors: Lichtenstein P,De Faire U,Floderus B,Svartengren M,Svedberg P,Pedersen NL

    更新日期:2002-09-01 00:00:00

  • Effects of isometric exercise and heart rate on left ventricular filling pattern assessed by pulsed Doppler echocardiography.

    abstract::Left ventricular filling pattern was assessed by pulsed Doppler echocardiography at rest and during handgrip exercise in 33 healthy middle-aged subjects. The peak mitral flow-velocities during the early rapid filling phase (E) and during late (atrial) filling (A) were measured and the ratio of these peak flow-velociti...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1989.tb01388.x

    authors: Airaksinen KE,Ikäheimo MJ,Huikuri HV,Koistinen MJ,Linnaluoto M,Takkunen JT

    更新日期:1989-10-01 00:00:00

  • Effects of atorvastatin and vitamin E on lipoproteins and oxidative stress in dialysis patients: a randomised-controlled trial.

    abstract:OBJECTIVES:The objective of this study was to examine the effects of treatment with atorvastatin, alpha-tocopherol and the combination of both, on lipoproteins and oxidative stress in dialysis patients. DESIGN AND SETTING:This double-blind randomised placebo-controlled trial was performed at the dialysis department of...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1365-2796.2005.01484.x

    authors: Diepeveen SH,Verhoeven GW,Van Der Palen J,Dikkeschei LD,Van Tits LJ,Kolsters G,Offerman JJ,Bilo HJ,Stalenhoef AF

    更新日期:2005-05-01 00:00:00

  • The metabolic syndrome in middle-aged men according to different definitions and related changes in carotid artery intima-media thickness (IMT) during 3 years of follow-up.

    abstract:OBJECTIVES:To examine the occurrence over time of the metabolic syndrome (MetS) according to different definitions and the relation to change during follow-up in carotid artery intima-media thickness (IMT), measured by ultrasound. DESIGN:A cohort of 316, originally 58-year-old men, initially free of diabetes and cardi...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2005.01511.x

    authors: Wallenfeldt K,Hulthe J,Fagerberg B

    更新日期:2005-07-01 00:00:00

  • The 21-year follow-up of the Cardiovascular Risk in Young Finns Study: risk factor levels, secular trends and east-west difference.

    abstract:OBJECTIVES:The Cardiovascular Risk in Young Finns Study is an on-going multicentre study of atherosclerosis precursors in Finnish children and young adults. We have collected risk factor data in the 21-year follow-up performed in 2001. The aims of this analysis were to examine the levels, secular trends and east-west d...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1365-2796.2004.01308.x

    authors: Juonala M,Viikari JS,Hutri-Kähönen N,Pietikäinen M,Jokinen E,Taittonen L,Marniemi J,Rönnemaa T,Raitakari OT

    更新日期:2004-04-01 00:00:00

  • Prions and protein-folding diseases.

    abstract::Prions represent a group of proteins with a unique capacity to fold into different conformations. One isoform is rich in beta-pleated sheets and can aggregate into amyloid that may be pathogenic. This abnormal form propagates itself by imposing its confirmation on the homologous normal host cell protein. Pathogenic pr...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2011.02387.x

    authors: Norrby E

    更新日期:2011-07-01 00:00:00

  • Homocysteine and major coronary events: a prospective population study amongst women.

    abstract:OBJECTIVES:To study serum homocysteine concentration for its prediction of major coronary heart disease events amongst women. DESIGN:A case-control study nested within a follow-up study. Subjects. A total of 74 and 75 major coronary events (coronary deaths or nonfatal myocardial infarction) which occurred in women wit...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.2001.00830.x

    authors: Knekt P,Alfthan G,Aromaa A,Heliövaara M,Marniemi J,Rissanen H,Reunanen A

    更新日期:2001-05-01 00:00:00

  • Autotaxin interacts with lipoprotein(a) and oxidized phospholipids in predicting the risk of calcific aortic valve stenosis in patients with coronary artery disease.

    abstract:BACKGROUND:Studies have shown that lipoprotein(a) [Lp(a)], an important carrier of oxidized phospholipids, is causally related to calcific aortic valve stenosis (CAVS). Recently, we found that Lp(a) mediates the development of CAVS through autotaxin (ATX). OBJECTIVE:To determine the predictive value of circulating ATX...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/joim.12519

    authors: Nsaibia MJ,Mahmut A,Boulanger MC,Arsenault BJ,Bouchareb R,Simard S,Witztum JL,Clavel MA,Pibarot P,Bossé Y,Tsimikas S,Mathieu P

    更新日期:2016-11-01 00:00:00

  • Clinical characteristics and predictors of the duration of SARS-CoV-2 viral shedding in 140 healthcare workers.

    abstract:BACKGROUND:Epidemiological and clinical features of patients with COVID-19 have been reported, but none of them focused on medical staff, and few predictors of the duration of viral shedding have been reported. It is urgent to help healthcare workers prevent and recover quickly from the coronavirus disease 2019 (COVID-...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/joim.13160

    authors: Liu W,Liu Y,Xu Z,Jiang T,Kang Y,Zhu G,Chen Z

    更新日期:2020-12-01 00:00:00

  • Effect of folic acid and betaine on fasting and postmethionine-loading plasma homocysteine and methionine levels in chronic haemodialysis patients.

    abstract:OBJECTIVES:To study fasting and postmethionine-loading (increment and decrement) plasma homocysteine levels in end-stage renal disease (ESRD) patients in relation to B-vitamin status and after folic acid treatment without or with betaine. DESIGN:Plasma total homocysteine (tHcy) and methionine levels were measured in c...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1365-2796.1999.00430.x

    authors: van Guldener C,Janssen MJ,de Meer K,Donker AJ,Stehouwer CD

    更新日期:1999-02-01 00:00:00

  • Developing new pharmacotherapies for autism.

    abstract::Developing new pharmacotherapies for autism spectrum disorder (ASD) is a challenge. ASD has a complex genetic architecture, several neurobiological phenotypes and multiple symptom domains. However, new opportunities are emerging that could lead to the development of 'targeted' and individualized pharmacological interv...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/joim.12113

    authors: Ecker C,Spooren W,Murphy D

    更新日期:2013-10-01 00:00:00

  • Strategies for the prevention of senile (type II) osteoporosis: an update.

    abstract::Hip fractures in the elderly represent a global issue, associated with significant morbidity and mortality. Considering the magnitude of the problem, any substantial reduction in the hip fracture burden depends on prevention. In view of the complex pathogenesis of senile (type II) osteoporosis, preventive strategies s...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2796.1996.427779000.x

    authors: Boonen S,Dequeker J

    更新日期:1996-05-01 00:00:00

  • Outcomes of endovascular treatment for acute large-vessel ischaemic stroke more than 6 h after symptom onset.

    abstract:BACKGROUND AND OBJECTIVES:Benefit from endovascular thrombectomy (EVT) for large-vessel occlusion (LVO) acute ischaemic stroke (AIS) is well demonstrated. Furthermore, emerging evidence supports efficacy in appropriately selected patients treated beyond current recommendations of 6 h. We evaluated clinical outcomes in ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,多中心研究

    doi:10.1111/joim.12680

    authors: Motyer R,Kok HK,Asadi H,O'Hare A,Brennan P,Power S,Looby S,Nicholson P,Williams D,Murphy S,Hill MD,Goyal M,McManus J,O'Brien P,Thornton J

    更新日期:2017-12-01 00:00:00

  • Hypersensitivity reaction associated with acute hepatic dysfunction following a single intravenous dose of procainamide.

    abstract::Rare cases of hepatotoxicity have been attributed to the antiarrhythmic agent procainamide. We here describe the case of a patient who had a hypersensitivity reaction to procainamide with fever, chills, arthralgia, abdominal pain and acute elevations of serum aminotransferase activities and bilirubin concentration. Th...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1992.tb00599.x

    authors: Worman HJ,Ip JH,Winters SL,Tepper DC,Gomes AJ

    更新日期:1992-10-01 00:00:00

  • Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A-V deficiency due to a novel mutation in the APOA5 gene.

    abstract::APOA5 encodes a novel apolipoprotein (apo A-V) which appears to be a modulator of plasma triglyceride (TG). In apoA5 knock out mice plasma TG level increases almost fourfold, whereas in human APOA5 transgenic mice it decreases by 70%. Some SNPs in the APOA5 gene have been associated with variations in plasma TG in hum...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2007.01912.x

    authors: Priore Oliva C,Carubbi F,Schaap FG,Bertolini S,Calandra S

    更新日期:2008-04-01 00:00:00

  • Types of diabetes treatment in a total, Norwegian, adult population. The Nord-Trøndelag Diabetes Study.

    abstract:OBJECTIVES:To describe types of diabetes treatment in a total, adult population, including those on no antidiabetic medication, and to evaluate use of the defined daily doses in estimation of diabetes prevalence. DESIGN:Cross-sectional epidemiologic survey applying patient-based questionnaires and clinical examination...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1994.tb00793.x

    authors: Midthjell K,Holmen J,Bjørndal A

    更新日期:1994-09-01 00:00:00

  • Uric acid and risk of myocardial infarction, stroke and congestive heart failure in 417,734 men and women in the Apolipoprotein MOrtality RISk study (AMORIS).

    abstract:OBJECTIVES:Few studies have simultaneously analysed the influence of elevated serum uric acid (UA) on acute myocardial infarction (AMI), ischaemic and haemorrhagic stroke (IS, HS) and congestive heart failure (CHF) in large healthy populations. We, here, examine UA as a risk factor for AMI, stroke and CHF by age and ge...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2009.02133.x

    authors: Holme I,Aastveit AH,Hammar N,Jungner I,Walldius G

    更新日期:2009-12-01 00:00:00

  • Assessment of thyroid and adrenal function in patients with familial amyloidotic polyneuropathy.

    abstract::This study was performed to evaluate thyroid and adrenal function in patients with familial amyloidotic polyneuropathy. Twenty-four patients without any clinical overt endocrinological dysfunction were studied. None of the patients showed laboratory evidences of hypo- or hyperthyroidism. A short ACTH-stimulation test ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1989.tb00091.x

    authors: Olofsson BO,Grankvist K,Boman K,Forsberg K,Lafvas I,Lithner F

    更新日期:1989-05-01 00:00:00

  • Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC).

    abstract::In this article, we review the current knowledge of the inherited genetics of epithelial ovarian cancer (EOC) susceptibility and clinical outcome. We focus on recent developments in identifying low-penetrance susceptibility genes and the role of the Ovarian Cancer Association Consortium (OCAC) in these discoveries. Th...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2011.02509.x

    authors: Bolton KL,Ganda C,Berchuck A,Pharaoh PD,Gayther SA

    更新日期:2012-04-01 00:00:00

  • Identification of biomarkers for apoptosis in cancer cell lines using metabolomics: tools for individualized medicine.

    abstract:BACKGROUND:Metabolomics is a versatile unbiased method to search for biomarkers of human disease. In particular, one approach in cancer therapy is to promote apoptosis in tumour cells; this could be improved with specific biomarkers of apoptosis for monitoring treatment. We recently observed specific metabolic patterns...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/joim.12117

    authors: Halama A,Riesen N,Möller G,Hrabě de Angelis M,Adamski J

    更新日期:2013-11-01 00:00:00

  • Personalized medicine approaches in epilepsy.

    abstract::Epilepsy affects 50 million persons worldwide, a third of whom continue to experience debilitating seizures despite optimum anti-epileptic drug (AED) treatment. Twelve-month remission from seizures is less likely in female patients, individuals aged 11-36 years and those with neurological insults and shorter time betw...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/joim.12322

    authors: Walker LE,Mirza N,Yip VLM,Marson AG,Pirmohamed M

    更新日期:2015-02-01 00:00:00

  • Interpretation of data from multiple trials: a critical review.

    abstract::The objective was to review the current status of meta-analysis, the process of combining the results of similar investigations, which was described in 1976. It has evolved rapidly, and thousands have already been published. Meta-analysis may be performed in a narrative form or in the preferred statistical format, whi...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2796.1997.118127000.x

    authors: Conn HO

    更新日期:1997-03-01 00:00:00

  • Gemfibrozil treatment of the high triglyceride-low high-density lipoprotein cholesterol trait in men with established atherosclerosis.

    abstract:OBJECTIVE:To study the short-term efficacy, tolerability and safety of the treatment with gemfibrozil 600 mg twice daily or placebo in male patients with established atherosclerosis, with a lipid profile matching the 'high triglyceride-low high-density lipoprotein (HDL) cholesterol trait'. DESIGN:Double-blind randomiz...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1365-2796.1994.tb00813.x

    authors: Knipscheer HC,Nurmohamed MT,Van den Ende A,Plaat B,Pruijs HJ,Mulder WJ,Kastelein JJ

    更新日期:1994-10-01 00:00:00