Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing. Abstract #658

Introduction: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with mutations in established PCC and PGL susceptibility loci. A majority of unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signalling pathway. Mutations in RAS subtypes H, K and N are common in human cancers, however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL.
Aim(s):
Materials and methods: Four benign and sporadic PCC and PGL tumors were subjected to whole exome sequencing using the Illumina HiSeq Platform. Sequences were processed by CLC genomics 4.9 bioinformatics software and the acquired list of genetic variants was filtered against the Catalogue of Somatic Mutations in Cancer (COSMIC) database. Findings were validated in an additional 78 PCC and PGL tumor lesions that were screened for mutations in SDHB, SDHC, SDHD, SDHAF2, VHL, RET, TMEM127 and MAX.
Conference: 10th Annual ENETS Conference (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Joakim Crona

To read results and conclusion, please login ...

Further abstracts you may be interested in

#366 Next Generation Sequencing is a Cost Effective and Time Saving Method in Clinical Genetic Screening of Patients with Pheochromocytomas
Introduction: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30-40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAD. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing Next generation sequencing as a fast and cost effective method.
Conference:
Category: Basic
Presenting Author: Mr. Joakim Crona
#269 Expression of IGF/mTOR Pathway Components in Human Pheochromocytomas and In Vitro Inhibition of PC12 Rat Pheochromocytoma Cell Growth by mTOR Inhibitors
Introduction: The pathogenesis of pheochromocytomas (pheo) is poorly understood and malignant pheo need new treatment options. mTOR inhibitors, as sirolimus(S) and everolimus(E), are promising antineoplastic drugs.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: MD Maria Cristina De Martino
#850 Expression of IGF/mTOR Pathway Components in Human Pheochromocytomas and In Vitro Inhibition of PC12 rat Pheochromocytoma Cell Growth by mTOR Inhibitors alone and in Combination with the Dual IGFI-R/INS-R Antagonist OSI-906
Introduction: Dysregulation of the mTOR and IGF pathways have been suggested to be involved in the pathogenesis of pheochromocytomas (PCC). mTOR inhibitors, such as sirolimus (S) and everolimus (E), as well as IGFI-R antagonists such as OSI-906, could be new a treatment for malignant PPC.
Conference: 11th Annual ENETS Conference (2014)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: MD Maria Cristina De Martino
#1027 Chromogranin A (CgA) in Pheochromocytoma and in Multiple Endocrine Neoplasia Type 1.
Introduction: Chromogranin A (CgA) as a main, nonspecific marker of neuroendocrine tumors (NET) has been applied for diagnostic purposes and for monitoring the treatment of NET. Pheochromocytoma and MEN-1 syndrome represent rare neuroendocrine tumours.
Conference: 12th Annual ENETS Conference (2015)
Category: Biomarkers
Presenting Author: M.Sc., Ph.D. Piotr Glinicki
#1414 Non-functioning Adrenal Composite Pheochromocytoma-Ganglioneuroma Simultaneous with Subclinical Cushing's Syndrome Due to Contralateral Adrenal Hyperplasia - An Unusual Presentation
Introduction: “Composite” pheochromocytoma is a rare tumor, consisting of pheochromocytoma and neuroblastic tumors. The definite diagnosis is histological. Subclinical Cushing's syndrome refers to autonomous glucocorticoid production without specific signs and symptoms of Cushing's syndrome.
Conference: 13th Annual ENETS conference (2016)
Category: Clinical cases/reports
Presenting Author: Antonia Ema Kiraly
Close
Notice

WARNING – FRAUDULENT WEBSITES

ENETS is aware that its members have been confronted with fake websites, which seem to relate to our congress but have not been commissioned or authorised by us. The websites offer fraudulent hotel reservation services. We therefore strongly recommend that you please only use the official enetsconference.org website when booking your tickets and accommodation. Please be vigilant when it comes to providing your credit card details. 

If you have any questions, please do not hesitate to contact us at info@enets.org.