Searchable abstracts of presentations at key conferences in endocrinology

ea0050p383 | Thyroid | SFEBES2017

Novel driver mutations in thyroid cancer recurrence

Nieto Hannah , Fletcher Alice , Thompson Rebecca , Baker Kate , Alshahrani Mohammed , de Menezes Albert Nobre , Read Martin , Boelaert Kristien , Smith Vicki , Cazier Jean-Baptiste , Mehanna Hisham , McCabe Chris

Worldwide, ˜300,000 new cases of differentiated thyroid cancer are reported per annum and thyroid cancer now represents the most rapidly increasing cancer in the US and in the UK. In general terms, outcome is good (10-year survival >90%). However, up to 25% of patients develop local or regional recurrences, and have a significantly reduced life expectancy. We hypothesise those thyroid tumours which subsequently recur display a distinct pattern of driver ...

ea0086oc2.1 | Endocrine Cancer and Late Effects | SFEBES2022

Generation of conditional MEN1 knockout human induced pluripotent stem cells (iPSCs) provide a genetically-tractable disease model to investigate cell-type specific gene function

Dissanayake Kumara , Poland Conor , Gierlinski Marek , Davidson Lindsay , Newey Paul

Introduction: Germline and somatic inactivating MEN1 variants are associated with a wide range of inherited and sporadic endocrine tumours. MEN1 encodes the tumour suppressor Menin, a ubiquitously expressed scaffold protein, implicated in multiple cellular processes including transcription, epigenetic regulation, and modulation of key signaling pathways. Despite intensive study, the mechanisms leading to endocrine tumorigenesis remain ill-defined, in part ref...

ea0090p661 | Endocrine-related Cancer | ECE2023

Revealing the anti-cancer region within KL1 subunit of the hormone klotho

Abboud Marana , Merenbakh-Lamin Keren , Ben-neriah Shira , rubinek tami , Wolf Ido

Background: Klotho is a 1012 amino acids transmembrane protein, composed of two internal repeats, KL1 and KL2, that can be cleaved, shed and act as a circulating hormone. Klotho regulates several pathways, including fibroblast growth factor 23 (FGF23), Wnt-β/catenin and the cation channels TRPV and TRPC. Our group and other labs identified klotho as a potent tumor suppressor in breast and pancreatic cancers and that KL1 domain is responsible for this activity. Yet, the me...

ea0066p5 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

Optimisation of transfection methods using various formats of gRNA delivery for CRISPR Cas9 mediated gene knock out in Beta-TC-6 cells

Purushothaman Preetha , Walker Amy , Attwood Martin , Maeshima Ruhina , Hussain Khalid , Hart Stephen

Background: The CRISPR/Cas9 genome-editing platform is a powerful technology to create genetically engineered cells and organisms. However, the success of CRISPR genome editing experiments is limited by the intracellular delivery and expression of Cas9 endonuclease protein and guide RNA (gRNA). Beta-tumour cells (βTC-6), derived from transgenic mice, exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate...

ea0063p551 | Diabetes, Obesity and Metabolism 2 | ECE2019

Insulin injection techniques: what do moroccan diabetic patients do?

Laidi Soukaina , Elaziz Siham , Chadli Asmaa

Introduction: A good injection technique is crucial to ensure that insulin is properly administered into the subcutaneous tissue and then released at the right time, to avoid some common complications such as lipodystrophies (LD). The objective of our study is to evaluate injection techniques in Moroccan diabetic patients.Materials and methods: We conducted a prospective study including any diabetic insulin-treated patient for more than 6 months, followe...

ea0063p552 | Diabetes, Obesity and Metabolism 2 | ECE2019

The reuse of insulin needles: a problem with consequences (about 1000 cases)

Laidi Soukaina , El Aziz Siham , Chadli Asmaa

Introduction: Changing needles and syringes when injecting insulin is often included in recommendations on injection techniques and in education sessions. The objective of our study was to evaluate the rate of insulin needle reuse and its consequences.Materials and methods: We conducted a prospective study including any diabetic insulin-treated patient for more than 6 months, followed up at the service between February 2015 and June 2017. Patients respon...

ea0049ep789 | Endocrine tumours and neoplasia | ECE2017

Magmas modulates chemoresistance in endocrine-related cancers

Riva Eleonora , Tagliati Federico , Gagliano Teresa , Trapella Claudio , Missiroli Sonia , Pinton Paolo , Bertolucci Cristiano , degli Uberti Ettore , Chiara Zatelli Maria

: Magmas, a gene encoding for the mitochondrial import inner membrane translocase subunit, Tim16, protects different cell lines from the antitumoral effects of several pro-apoptotic stimuli (i.e. chemicals and chemotherapeutic agents). The synthetic Compound 5 is capable of sensitizing chemoresistant tumor cells overexpressing Magmas to proapoptotic stimuli, indicating that this molecule may be useful to overcome tumor chemoresistance. The aim of our study was to evaluate whet...

ea0041gp15 | Adrenal (1) | ECE2016

Reduced temperature and the chemical chaperone 4-phenylbutyrate enhance stability of CYP21A2 mutations

Chen Yiqing , Schaefer Kerstin , Gasteiger Maria , Taylor Angela , Arlt Wiebke , Krone Nils , Gersting Soeren W. , Reisch Nicole

Background: Mutations of 21-hydroxylase (CYP21A2) cause congenital adrenal hyperplasia. Its severe (classic) form constitutes a life-threatening disease. Patients suffer a significant disease burden due to co-morbidities that are often treatment-related. The current therapeutic situation is unsatisfying and demands novel treatment approaches. In silico modelling suggests protein misfolding and intracellular retention to play a significant role in the pathogenesis of C...

ea0041gp226 | Thyroid Cancer | ECE2016

Systemic epidermal growth factor receptor-targeted gene delivery using the theranostic sodium iodide symporter (NIS) gene in an advanced orthotopic tumor model

Urnauer Sarah , Morys Stephan , Muller Andrea M , Oos Rosel , Carlsen Janette , Bartenstein Peter , Wagner Ernst , Spitzweg Christine

The well characterized sodium iodide symporter (NIS) in its dual function as reporter and therapy gene displays an outstanding opportunity to target different cancer types allowing non-invasive imaging of functional NIS expression and therapeutic radionuclide application. We recently reported induction of tumor-selective accumulation and therapeutic efficacy of radioiodide after systemic non-viral epidermal growth factor receptor (EGFR)-targeted NIS gene delivery in a subcutan...

ea0041ep1098 | Thyroid cancer | ECE2016

Sequence defined cMET/HGFR-targeted polymers as gene delivery vehicles for the theranostic sodium iodide symporter (NIS) gene

Urnauer Sarah , Morys Stephan , Levacic Ana Krhac , Muller Andrea M , Schug Christina , Schmohl Kathrin A , Schwenk Nathalie , Zach Christian , Carlsen Janette , Bartenstein Peter , Wagner Ernst , Spitzweg Christine

The sodium iodide symporter (NIS) in its role as well characterized reporter and therapy gene represents an outstanding tool to target different cancer types allowing non-invasive imaging of functional NIS expression by 123I-scintigraphy and therapeutic application of 131I. Based on its overexpression on the surface of the vast majority of cancer types, the cMET/Hepatocyte growth factor receptor (HGFR) serves as an ideal target for tumor-selective gene de...