An update on adult forms of hereditary pheochromocytomas and paragangliomas

Dariane, C.; Goncalves, Judith; Timsit, Marc‐Olivier; Favier, Judith

doi:10.1097/cco.0000000000000694

Cited by 13 publications

(9 citation statements)

References 68 publications

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“…Germline mutations of SDHx are the most common in peritoneal paraganglioma, accounting for 25% of familial cases [13]. Although renal tumors and pheochromocytoma/paraganglioma tumor association syndrome are generally associated with VHL disease, SDHx mutations are the most frequent cause of non-VHL cases [14][15][16]. On the basis of these findings, SDHB, SDHC, and SDHD were also analyzed together with VHL, but no previously reported mutations were identified in our case.…”

Section: Discussionmentioning

confidence: 65%

Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel–Lindau gene: a case report and review of the literature

et al. 2022

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Von Hippel-Lindau (VHL) disease is an autosomal dominant disease related to germline mutations in VHL. In VHL disease, pheochromocytoma develops in 10%-20% of patients because of germline mutations and loss of heterozygosity of VHL. However, the rate of paraganglioma associated with VHL is low compared with that of pheochromocytoma, and the reason is unknown. In this study, we performed germline and somatic mutation analyses of retroperitoneal paraganglioma that developed in a patient with clinically diagnosed VHL disease and investigated the tumorigenic mechanism of paraganglioma. The patient was a 25-year-old woman who was considered to have VHL disease on the basis of her family history. She was referred to our clinic to investigate a tumor at the bifurcation of the common iliac artery. The tumor was diagnosed as retroperitoneal paraganglioma by clinical evaluations. A left renal cell carcinoma was also suspected. Polymerase chain reaction direct sequencing analysis and polymorphic microsatellite analysis within the VHL locus suggested that loss of heterozygosity of VHL was associated with paraganglioma and renal cell carcinoma. Multiplex ligation-dependent probe amplification analysis showed a loss of the copy number of VHL exons in paraganglioma. These results suggest that VHL disease contributes to the development of paraganglioma. A literature review showed no reported common missense variants involved in the progression of paraganglioma. The loss of heterozygosity of VHL can be a tumorigenic mechanism of retroperitoneal paraganglioma in VHL disease. However, the low rate of paraganglioma compared with pheochromocytoma is not explained by their genetic background alone.

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Section: Discussionmentioning

confidence: 65%

Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel–Lindau gene: a case report and review of the literature

et al. 2022

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“…The release of catecholamines in excess can cause typical adrenergic and noradrenergic symptoms: the most frequent include severe headache, sweating, palpitations, tremor, persistent (cluster 1) or episodic hypertension (cluster 2); therefore, untreated PPGLs, can cause severe damage, particularly to the cardiovascular system [ 2 , 6 , 13 , 22 , 23 , 24 , 25 ]. Cluster-specific differences have been reported with cluster 1 patients showing lower basic symptoms scores compared to cluster 2 patients who typically present with paroxysmal symptoms.…”

Section: Clinical Presentation and Metastatic Potentialmentioning

confidence: 99%

The Management of Phaeochromocytomas and Paragangliomas in the Era of Precision Medicine: Where Are We Now? Evidence-Based Systemic Treatment Options and Future Cluster Oriented Perspectives

Bracigliano,

Marretta,

Guerrera

et al. 2024

Pharmaceuticals

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Pheochromocytomas (PCCs) and Paragangliomas (PGLs), commonly known as PPGLs to include both entities, are rare neuroendocrine tumors that may arise in the context of hereditary syndromes or be sporadic. However, even among sporadic PPGLs, identifiable somatic alterations in at least one of the known susceptibility genes can be detected. Therefore, about 3/4 of all PPGL patients can be assigned to one of the three molecular clusters that have been identified in the last years with difference in the underlying pathogenetic mechanisms, biochemical phenotype, metastatic potential, and prognosis. While surgery represents the mainstay of treatment for localized PPGLs, several therapeutic options are available in advanced and/or metastatic setting. However, only few of them hinge upon prospective data and a cluster-oriented approach has not yet been established. In order to render management even more personalized and improve the prognosis of this molecularly complex disease, it is undoubtable that genetic testing for germline mutations as well as genome profiling for somatic mutations, where available, must be improved and become standard practice. This review summarizes the current evidence regarding diagnosis and treatment of PPGLs, supporting the need of a more cluster-specific approach in clinical practice.

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“…Approximately 35–40% of PCCs and PGLs have a hereditary predisposition that is attributable to germline pathogenic variants (PVs) in over twenty susceptibility genes ( 53 – 55 ). Rates of predisposition to such germline PVs range between 25–30% in PCC, up to 40% in PGL, and about 50% in metastatic disease ( 56 ).…”

Section: Hypoxia Inducible Factors: Overview Of Structure Function An...mentioning

confidence: 99%

Hypoxia signaling pathway: A central mediator in endocrine tumors

et al. 2023

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Adequate oxygen levels are essential for the functioning and maintenance of biological processes in virtually every cell, albeit based on specific need. Thus, any change in oxygen pressure leads to modulated activation of the hypoxia pathway, which affects numerous physiological and pathological processes, including hematopoiesis, inflammation, and tumor development. The Hypoxia Inducible Factors (HIFs) are essential transcription factors and the driving force of the hypoxia pathway; whereas, their inhibitors, HIF prolyl hydroxylase domain (PHDs) proteins are the true oxygen sensors that critically regulate this response. Recently, we and others have described the central role of the PHD/HIF axis in various compartments of the adrenal gland and its potential influence in associated tumors, including pheochromocytomas and paragangliomas. Here, we provide an overview of the most recent findings on the hypoxia signaling pathway in vivo, including its role in the endocrine system, especially in adrenal tumors.

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An update on adult forms of hereditary pheochromocytomas and paragangliomas

Cited by 13 publications

References 68 publications

Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel–Lindau gene: a case report and review of the literature

Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel–Lindau gene: a case report and review of the literature

The Management of Phaeochromocytomas and Paragangliomas in the Era of Precision Medicine: Where Are We Now? Evidence-Based Systemic Treatment Options and Future Cluster Oriented Perspectives

Hypoxia signaling pathway: A central mediator in endocrine tumors

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