Clinical presentation of sporadic and hereditary pheochromocytoma/paraganglioma

Burciulescu, Sofia Maria Lider; Randon, Caren; Duprez, Frédéric; Huvenne, Wouter; Creytens, David; Claes, Kathleen; Putter, Robin De; T’Sjoen, Guy; Badiu, Corin; Lapauw, Bruno

doi:10.1530/eo-22-0040

Cited by 2 publications

(1 citation statement)

References 22 publications

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“…PPGLs are uncommon tumors, in their majority benign, whose origins are chromaffin cells that originate from NCCs. They can be categorized either as sporadic types or those that develop on a genetic basis, with inherited paraganglioma being more frequent than the inheritable type of pheochromocytoma [250]. They are otherwise known as neuroendocrine tumors.…”

Section: Pheochromocytomas-paragangliomas (Ppgls)mentioning

confidence: 99%

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap

Chatzi,

Kyriakoudi,

Dermitzakis

et al. 2024

JCM

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Neurocristopathies (NCPs) encompass a spectrum of disorders arising from issues during the formation and migration of neural crest cells (NCCs). NCCs undergo epithelial–mesenchymal transition (EMT) and upon key developmental gene deregulation, fetuses and neonates are prone to exhibit diverse manifestations depending on the affected area. These conditions are generally rare and often have a genetic basis, with many following Mendelian inheritance patterns, thus making them perfect candidates for precision medicine. Examples include cranial NCPs, like Goldenhar syndrome and Axenfeld–Rieger syndrome; cardiac–vagal NCPs, such as DiGeorge syndrome; truncal NCPs, like congenital central hypoventilation syndrome and Waardenburg syndrome; and enteric NCPs, such as Hirschsprung disease. Additionally, NCCs’ migratory and differentiating nature makes their derivatives prone to tumors, with various cancer types categorized based on their NCC origin. Representative examples include schwannomas and pheochromocytomas. This review summarizes current knowledge of diseases arising from defects in NCCs’ specification and highlights the potential of precision medicine to remedy a clinical phenotype by targeting the genotype, particularly important given that those affected are primarily infants and young children.

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Section: Pheochromocytomas-paragangliomas (Ppgls)mentioning

confidence: 99%

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap

Chatzi,

Kyriakoudi,

Dermitzakis

et al. 2024

JCM

View full text Add to dashboard Cite

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Genetic landscape of Romanian PPGLs

Lider‐Burciulescu,

Gheorghiu,

Braha

et al. 2024

J Cellular Molecular Medi

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Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours that originate from chromaffin cells and occur in the adrenal medulla and in the sympathetic or parasympathetic ganglia. Nearly 70% of PPGLs result from germline or somatic mutations in a single driver gene. The aim of this study was to characterize the genetic background and clinical characteristics related to genetic profile of patients with PPGLs from Romania. We retrospectively retrieved data of 125 patients consecutively registered, diagnosed with PPGLs in a tertiary referral center of endocrinology from Romania, between 1976 and 2022. We identified 88 (70.4%) women, and 37 (29.6%) men, with a mean age at diagnosis of 48.5 ± 15 years. From these 125 patients, 80 (64%) were submitted to the genomic study; 35% (n = 28) had a germline mutation (20 RET, 3 VHL, 1 SDHB, 1 NF1, 1 SDHD, 1 FANCA, 1 CASR) while 65% (n = 52) presented sporadic disease. Patients with hereditary disease had significantly lower age at diagnosis comparing to sporadic cases (37 ± 15 vs. 49.9 ± 12.2 years, p = 0.001). Bilateral tumors developed in twelve patients from the hereditary group. Metastatic disease was described in 4 out of 80 patients (2 of them with hereditary disease). Patients from sporadic group tended to have a right lateralisation of the tumour compared to hereditary cases, where the tumour was more often left sided. RET pathogenic variant (p.Cys634Trp) associated with MEN2A syndrome was the most prevalent in Romanian population with PPGLs and could be considered as a founder effect. Patients with hereditary disease are diagnosed at a younger age and develop bilateral tumors more frequently compared to sporadic cases.

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Clinical presentation of sporadic and hereditary pheochromocytoma/paraganglioma

Cited by 2 publications

References 22 publications

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap

Genetic landscape of Romanian PPGLs

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