Endocrine Abstracts

Pheochromocytoma and paraganglioma (PPGL) are rare tumours, whose genetic profile has gained complexity over the last two decades. The list of genes involved in the development of this disease has been steadily growing, and there are currently more than 20 driver genes capable of explaining either the hereditary or sporadic nature of the disease. Although genetic diagnosis is achieved in about 75-80% of cases, the genetic aetiology remains to be explained not only in patients ...

Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with marked genetic heterogeneity, being the most inherited human tumour described so far. Around 40% of patients will be a carrier of a germline mutation in any of the know PPGL genes, and thus, for years most of studies have been performed on germline DNA. Findings from genetic testing in tumour DNA has dramatically changed the scenario. Nowadays, it is as relevant to make the screening on the germ...

During the last two decades the Scientific Community has assisted to an exponential increase of knowledge of genetic factors related to cancer susceptibility, as well as of key molecular mechanisms involved in tumour progression. In part, this has been the result of using high-throughput platforms able to interrogate any part of the genome following a hypothesis-free strategy. Without a doubt, the success achieved in recent years has to do not only with the improvement in the ...

Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours, located in the adrenal medulla (PCC) and in the intra-abdominal, thoracic or head and neck paraganglia (PGL). They have the highest heritability of all human neoplasms being a good example of diseases with underlying genetic heterogeneity. In this regard, at least 40% of PCC/PGL (PPGL) patients carry a germline mutation in one of the 22 genes described so far as related to the disease. In additio...

Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours, located in the adrenal medulla (PCC) and in the intra-abdominal, thoracic or head and neck paraganglia (PGL). They have the highest heritability of all human neoplasms being a good example of diseases with underlying genetic heterogeneity. In this regard, at least 40% of PCC/PGL patients carry a germline mutation in one of the 16 genes described so far as related to the disease. In addition to th...

Background: Pituitary adenomas (PA) and pheochromocytomas/paraganglioma (pheo/PGL) can occur in the same patient due to coincidence or of shared pathogenesis. There is evidence that, at least in some cases, classical pheo/PGL predisposing genes, may also play a role in pituitary tumorigenesis. A new condition called ‘the three P Association’ (3PAs) for the combination of PA with pheo/PGL has been recently described in patients with or without succinate dehydrogenase ...

Introduction: Follicular tumours of the thyroid gland include benign follicular adenomas, follicular carcinomas and the follicular variant of papillary carcinoma. Although, molecular markers are a promising area of research to differentiate thyroid neoplasms, there is ample room for improvement in the research and clinical applications in this field. Furthermore, the final diagnosis requires thyroid lobectomy. The present study examined whether a differential protein expressio...

Introduction: MicroRNAs (miRNAs) are short non-coding RNAs that regulate translation or degradation of target mRNAs. Therefore, miRNAs control gene expression in many biological processes, including proliferation, apoptosis, and differentiation. Deregulation of miRNAs expression is an important contributor to tumour development and progression. Even though several genetic and epigenetic lesions have been identified in human thyroid cancer, particularly in the papillary histoty...

Background: It is well established that life-long follow-up is required for patients with hereditary pheochromocytomas and paragangliomas (PPGLs), due to the potential of developing recurrent disease. However, whether follow-up of patients with sporadic PPGLs is necessary, remains unclear.Aims: To examine the prevalence and predictors of recurrent disease in patients with sporadic PPGLs.Materials and method: This multicenter study included retrospective ...

Pheochromocytomas and paragangliomas (PPGL) are commonly benign catecholamine-producing neuroendocrine tumors (NETs); however, up to 25 % of patients develop distant metastases or aggressive behavior. The current classification of PPGL comprises pseudohypoxia-profile, MAPK-pathway alteration, and Wnt-pathway dysregulation clusters according to their genomic characterization. However, to date, there are no biomarkers to help stratify patients based on their prognosis. Alternati...