Non ‑functional paraganglioma: A case report
Exp Ther Med. 2023 Nov 16;27(1):16. doi: 10.3892/etm.2023.12304. eCollection 2024 Jan.ABSTRACTParaganglioma (PGL) usually presents as the elevation of blood pressure and metabolic changes in patients, and its common symptoms are persistent or paroxysmal hypertension. However, some patients have no typical clinical symptoms, such as patients with non-functional PGL. Therefore, the present study reviewed the literature and summarized the present rare case to provide more accurate and in-depth help for clinical diagnosis and comprehensive treatment. The case was a 64-year-old female with epigastrium malaise for 1 year and agg...
Source: Experimental and Therapeutic Medicine - December 21, 2023 Category: General Medicine Authors: Zheng Liu Yang Zhang Xingyuan Zhang Lingqun Kong Source Type: research
Development and internal validation of a novel predictive model for SDHB mutations in pheochromocytomas and retroperitoneal paragangliomas
ConclusionsThis study provided a novel and useful tool for predicting SDHB mutations by integrating easily obtained clinical data. It may help clinicians select suitable genetic testing methods and make appropriate clinical decisions for these high-risk patients. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - December 21, 2023 Category: Endocrinology Source Type: research
A comprehensive characterisation of phaeochromocytoma and paraganglioma tumours through histone protein profiling, DNA methylation and transcriptomic analysis genome wide
Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours. Pathogenic variants have been identified in more than 15 susceptibility genes; associated tumours are grouped into three Clusters,... (Source: Clinical Epigenetics)
Source: Clinical Epigenetics - December 20, 2023 Category: Research Authors: Prodromos Chatzikyriakou, Dimitria Brempou, Mark Quinn, Lauren Fishbein, Roberta Noberini, Ioannis N. Anastopoulos, Nicola Tufton, Eugenie S. Lim, Rupert Obholzer, Johnathan G. Hubbard, Mufaddal Moonim, Tiziana Bonaldi, Katherine L. Nathanson, Louise Izat Tags: Research Source Type: research
[18F]FDOPA PET/CT is superior to [68Ga]DOTATOC PET/CT in diagnostic imaging of pheochromocytoma
ConclusionsFDOPA is superior to DOTATOC for localization of PCC. In contrast to DOTATOC, FDOPA also identified all PGL but with a limited number of patient cases. (Source: EJNMMI Research)
Source: EJNMMI Research - December 18, 2023 Category: Radiology Source Type: research
Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
Nature Reviews Endocrinology, Published online: 14 December 2023; doi:10.1038/s41574-023-00926-0The management of patients with pheochromocytoma and paraganglioma associated with pathogenic variants in SDHB can be challenging. This Consensus statement aims to provide a guide for the clinical decision-making process in these patients. (Source: Nature Reviews Endocrinology)
Source: Nature Reviews Endocrinology - December 14, 2023 Category: Endocrinology Authors: David Ta ïeb Svenja N ölting Nancy D. Perrier Martin Fassnacht Jorge A. Carrasquillo Ashley B. Grossman Roderick Clifton-Bligh George B. Wanna Zachary G. Schwam Laurence Amar Isabelle Bourdeau Ruth T. Casey Joakim Crona Cheri L. Deal Jaydira Del Rivero Source Type: research
An aggressive cabergoline-resistant, temozolomide-responsive macroprolactinoma due to a germline SDHB pathogenic variant in the absence of paraganglioma or pheochromocytoma
ConclusionGermline SDHB mutations can rarely cause PA in the absence of PPGL. They should be considered as a possible cause of aggressiveness and resistance to dopamine agonists in similar cases. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - December 13, 2023 Category: Endocrinology Source Type: research
GSE249273 EPAS1-mutated paragangliomas are associated with hemoglobin disorders
This study reports a large series patients presenting EPAS1-mutated paraganglioma in whom we investigated a cause underlying chronic hypoxia. Four patients (10%) suffered from hypoxemic heart disease. In patients with available hemoglobin electrophoresis results, 59% presented a hemoglobin disorder. Histological and transcriptomic characterization of EPAS1-tumors revealed increased angiogenesis and high similarities with pseudohypoxic paragangliomas caused by VHL gene mutations. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - December 11, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas
ConclusionAn SDHD mutation variant was shared amongst unrelated patients but no founder-effect was established. Our findings confirmed that the pattern of SDHD mutation distribution amongst HNPGLs in Czech Republic differs from most studies worldwide. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - December 8, 2023 Category: Endocrinology Source Type: research
Preoperative Direct Puncture Embolization Using a Nonadhesive Ethylene Vinyl Alcohol (EVOH) Liquid Embolic Agent for Head and Neck Paragangliomas
ConclusionPreoperative embolization of HNPs using a direct puncture technique and EVOHs is a safe, efficient, and feasible treatment option with a low risk of complications. This procedure facilitates surgery by transforming tumors into avascular masses that are well-delineated against the surrounding normal tissue. (Source: Clinical Neuroradiology)
Source: Clinical Neuroradiology - December 8, 2023 Category: Neurology Source Type: research
Local recurrence and metastatic disease in pheochromocytomas and sympathetic paragangliomas
ConclusionThe recurrence of PPGLs occurred more frequently in patients with SDHB mutations, with larger tumors and with higher urinary normetanephrine levels. Since PPGL recurrence may occur at any time after the initial PPGL diagnosis is performed, we recommend performing a strict follow-up in all patients with PPGLs, especially in those patients with a higher risk of recurrent disease. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - December 7, 2023 Category: Endocrinology Source Type: research
How to avoid intraoperative complications of active paragangliomas?
CONCLUSION: If laboratory tests are suggestive of a secretory tumor, surgery should include anesthesiologic preparation similar to cases of pheochromocytoma.PMID:38053703 | PMC:PMC10695454 | DOI:10.25259/SNI_620_2023 (Source: Surgical Neurology International)
Source: Surgical Neurology International - December 6, 2023 Category: Neurosurgery Authors: Edvin Zekaj Marcella Callea Christian Saleh Guglielmo Iess Phillip Jaszczuk Luzius A Steiner Viktorija Kenstaviciute Domenico Servello Source Type: research
