scholarly journals 65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents

2018 ◽  
Vol 25 (8) ◽  
pp. T221-T244 ◽  
Author(s):  
Catherine Goudie ◽  
Fady Hannah-Shmouni ◽  
Mahmure Kavak ◽  
Constantine A Stratakis ◽  
William D Foulkes
Keyword(s):  
Medullary Thyroid Cancer ◽  
Adrenal Glands ◽  
Kinase Inhibitors ◽  
Double Helix ◽  
Genetic Disorders ◽  
Genetic Data ◽  
Daily Practice ◽  
Endocrine Disorders ◽  
Endocrine Tumour ◽  
New Information

As medicine is poised to be transformed by incorporating genetic data in its daily practice, it is essential that clinicians familiarise themselves with the information that is now available from more than 50 years of genetic discoveries that continue unabated and increase by the day. Endocrinology has always stood at the forefront of what is called today ‘precision medicine’: genetic disorders of the pituitary and the adrenal glands were among the first to be molecularly elucidated in the 1980s. The discovery of two endocrine-related genes,GNASandRET, both identified in the late 1980s, contributed greatly in the understanding of cancer and its progression. The use ofRETmutation testing for the management of medullary thyroid cancer was among the first and one of most successful applications of genetics in informing clinical decisions in an individualised manner, in this case by preventing cancer or guiding the choice of tyrosine kinase inhibitors in cancer treatment. New information emerges every day in the genetics or system biology of endocrine disorders. This review goes over most of these discoveries and the known endocrine tumour syndromes. We cover key genetic developments for each disease and provide information that can be used by the clinician in daily practice.

scholarly journals BASIC DIFFICULTIES AND DIRECTIONS OF DEVELOPMENT OF INFORMATION TECHNOLOGIES IN THE RUSSIAN FEDERATION FOR THE MIDDLE AND LONG-TERM PROSPECTS

2019 ◽  
Vol 2019 (3) ◽  
pp. 25-29
Author(s):  
Андрей Аверченков ◽  
Andrey Averchenkov ◽  
Елена Аверченкова ◽  
Elena Averchenkova ◽  
Федор Лозбинев ◽  
...  
Keyword(s):  
Public Administration ◽  
Information Technologies ◽  
Daily Practice ◽  
Digital Economy ◽  
Successful Implementation ◽  
Russian Society ◽  
Regional Government ◽  
New Information ◽  
Legal Frameworks

New benchmarks of the digital economy require the introduction of new information technologies into the daily practice of public administration. The main legal frameworks of the state development of the digital society in the medium and long term are considered on the example of the National Project “Digital Economy”. It is shown that the provision of a sufficient level of regional government in the conditions of information transformations is possible within the framework of the Federal Project "Digital Public Administration". Training and retraining of personnel in the field of information technologies is the most important condition for the successful implementation of the idea of informatization of Russian society, it is implemented by the measures of the Federal project "Personnel for the digital economy"

scholarly journals Prediction of individual response to antidepressants and antipsychotics: an integrated concept

2014 ◽  
Vol 16 (4) ◽  
pp. 545-554 ◽  
Keyword(s):  
Clinical Trials ◽  
Conceptual Framework ◽  
Daily Practice ◽  
Intraindividual Variability ◽  
Individual Response ◽  
Antipsychotic Therapy ◽  
Patient Response ◽  
Antipsychotic Medications ◽  
New Information ◽  
Integrated Concept

In both clinical trials and daily practice, there can be substantial inter- and even intraindividual variability in response--whether beneficial or adverse--to antidepressants and antipsychotic medications. So far, no tools have become available to predict the outcome of these treatments in specific patients. This is because the causes of such variability are often not known, and when they are, there is no way of predicting the effects of their various potential combinations in an individual. Given this background, this paper presents a conceptual framework for understanding known factors and their combinations so that eventually clinicians can better predict what medication(s) to select and at what dose they can optimize the outcome for a given individual. This framework is flexible enough to be readily adaptable as new information becomes available. The causes of variation in patient response are grouped into four categories: (i) genetics; (ii) age; (iii) disease; and (iv) environment (internal). Four cases of increasing complexity are used to illustrate the applicability of this framework in a clinically relevant way In addition, this paper reviews tools that the clinician can use to assess for and quantify such inter- and intraindividual variability. With the information gained, treatment can be adjusted to compensate for such variability, in order to optimize outcome. Finally, the limitations of existing antidepressant and antipsychotic therapy and the way they reduce current ability to predict response is discussed.

Pancreatic endocrine disorders and multiple endocrine neoplasia

2020 ◽  
pp. 2449-2463
Author(s):  
B. Khoo ◽  
T.M. Tan ◽  
S.R. Bloom
Keyword(s):  
Kinase Inhibitors ◽  
Neuroendocrine Tumours ◽  
Mammalian Target Of Rapamycin ◽  
Peptide Receptor Radionuclide Therapy ◽  
Mtor Inhibitors ◽  
Somatostatin Analogues ◽  
Endocrine Disorders ◽  
Pancreatic Neuroendocrine Tumours ◽  
Islet Cell Tumours ◽  
Cancer Syndromes

Pancreatic neuroendocrine tumours (islet-cell tumours) are rare and usually sporadic, but they may be associated with complex familial endocrine cancer syndromes. Recognized types of pancreatic neuroendocrine tumours are those that are non-functioning (often advanced at diagnosis and presenting with mass effects due to the absence of symptoms attributable to hormone hypersecretion), insulinoma (the most frequent type), and others including gastrinoma, VIPoma, and glucagonoma. The following should be considered in addition to the symptomatic treatments: surgical resection—the only curative treatment, but not possible in many cases; tyrosine kinase inhibitors which inhibit specific kinases involved in tumour cell proliferation, growth, and angiogenesis; mammalian Target of Rapamycin (mTOR) inhibitors; peptide-receptor radionuclide therapy (radiolabelled somatostatin analogues).

Practical Implications of the 2016 Revision of the World Health Organization Classification of Lymphoid and Myeloid Neoplasms and Acute Leukemia

2017 ◽  
Vol 35 (23) ◽  
pp. 2708-2715 ◽  
Author(s):  
John P. Leonard ◽  
Peter Martin ◽  
Gail J. Roboz
Keyword(s):  
Acute Leukemia ◽  
Clinical Trial Design ◽  
Daily Practice ◽  
World Health ◽  
Myeloid Neoplasms ◽  
New Information ◽  
Health Organization ◽  
Key Aspects ◽  
Practical Implications

A major revision of the WHO classification of lymphoid and myeloid neoplasms and acute leukemia was released in 2016. A key motivation for this update was to include new information available since the 2008 version with clinical relevance for the diagnosis, prognosis, and therapy of patients. With > 100 entities described, it is important for the clinician to understand features that may be important in daily practice, whereas researchers need to incorporate the new classification scheme into study development and analysis. In this review, we highlight the key aspects of the 2016 update with particular importance to routine patient care and clinical trial design.

scholarly journals Increased therapeutic effect on medullary thyroid cancer using a combination of radiation and tyrosine kinase inhibitors

PLoS ONE ◽  
2020 ◽  
Vol 15 (5) ◽  
pp. e0233720
Author(s):  
Viktor Sandblom ◽  
Johan Spetz ◽  
Emman Shubbar ◽  
Mikael Montelius ◽  
Ingun Ståhl ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Tyrosine Kinase ◽  
Tyrosine Kinase Inhibitors ◽  
Therapeutic Effect ◽  
Medullary Thyroid Cancer ◽  
Kinase Inhibitors ◽  
Medullary Thyroid

First Line Sorafenib Treatment for Metastatic Medullary Thyroid Cancer: Efficacy and Safety Analysis

2018 ◽  
Vol 127 (04) ◽  
pp. 240-246 ◽  
Author(s):  
Judit Kocsis ◽  
Éva Szekanecz ◽  
Ali Bassam ◽  
Andrea Uhlyarik ◽  
Zsuzsanna Pápai ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Tyrosine Kinase ◽  
Disease Control ◽  
Tyrosine Kinase Inhibitors ◽  
Phase Ii ◽  
Medullary Thyroid Cancer ◽  
Kinase Inhibitors ◽  
Efficacy And Safety ◽  
First Line ◽  
Medullary Thyroid

Abstract Background Medullary thyroid cancer (MTC) is a rare disease, the prognosis of advanced and metastatic disease is poor and few therapeutic options are available in this setting. Based on the results of phase II and III studies with sorafenib in differentiated thyroid cancer and the lack of availability of registered tyrosine kinase inhibitors, vandetabin and cabozantinib in Hungary, we designed a uncontrolled, prospective efficacy and safety study of patients with metastatic MTC treated with first-line sorafenib in five Hungarian oncology centers. Methods Ten consecutive patients with progressive or symptomatic metastatic MTC were included and started sorafenib 400  mg twice a day between June 2012 and March 2016. The primary end point was median progression-free survival (mPFS). Secondary endpoints included disease control rate, biochemical response, symptomatic response and toxicity. Results Four patients achieved partial remission (40%) according to RECIST 1.1 evaluation. Five patients had stable disease beyond 12 months (50%) and one patient had progressive disease (10%). Median PFS was 19.1 months. The disease control rate was 90%. Association between radiologic response and biochemical or symptomatic response was inconsistent. Most common side effects were Grade 1-2 fatigue (60%), palmar-plantar erythrodysesthesia, rash/dermatitis 50-50%, alopecia 40%. Conclusions In our prospective case series in patients with MTC first-line sorafenib showed at least similar efficacy as in other small phase II trials and case reports. Based on comparable efficacy with registered tyrosine kinase inhibitors and it’s manageable toxicity profile, we believe that sorafenib has role in the sequential treatment of MTC.

scholarly journals Sporadic hypercalcitoninemia: clinical and therapeutic consequences

2009 ◽  
Vol 16 (1) ◽  
pp. 243-253 ◽  
Author(s):  
C Scheuba ◽  
K Kaserer ◽  
A Moritz ◽  
R Drosten ◽  
H Vierhapper ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Lymph Node ◽  
Lymph Node Metastases ◽  
Medullary Thyroid Cancer ◽  
Germ Line ◽  
Daily Practice ◽  
Cell Hyperplasia ◽  
Medullary Thyroid ◽  
Node Metastases ◽  
Calcitonin Screening

‘Calcitonin screening’ is not accepted as the standard of care in daily practice. The clinical and surgical consequences of ‘calcitonin screening’ in a series of patients with mildly elevated basal calcitonin and pentagastrin stimulated calcitonin levels are presented. 260 patients with elevated basal (>10 pg/ml) and stimulated calcitonin levels (>100 pg/ml) were enrolled in this prospective study. None of the patients was member of a known medullary thyroid carcinoma family. Thyroidectomy and bilateral central and lateral neck dissections were performed. Testing for the presence of germ-line mutations was performed in all patients. Histological and immunohistochemical findings were compared with basal and stimulated calcitonin levels. All patients were subsequently followed biochemically. C-cell hyperplasia (CCH) was found in 126 (49%) and medullary thyroid cancer was found in 134 (51%) patients. RET proto-oncogen mutations were documented in 22 (8%) patients (medullary thyroid cancer:18, CCH:4). In 56 (46%) of 122 patients, sporadic CCH was classified neoplastic (‘carcinoma in situ’). Of 97 (72%; 10 with hereditary medullary thyroid cancer) had pT1 (International Union against Cancer recommendations 2002) and 33 (25%) had pT2 or pT3 and 4 (3%) pT4 tumors. Of 39 (29.1%) had lymph node metastases. 106 (79.1%; 15 (38.5%) with lymph node metastases) patients were cured. Evaluation of basal and stimulated calcitonin levels enables the prediction of medullary thyroid cancer. All patients with basal calcitonin >64 pg/ml and stimulated calcitonin >560 pg/ml have medullary thyroid cancer. Medullary thyroid cancer was documented in 20% of patients with basal calcitonin >10 pg/ml but <64 pg/ml and stimulated calcitonin >100 pg/ml but <560 pg/ml.

Sign in / Sign up

Export Citation Format

Share Document