Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier, Benjamin; Dupuis, Hippolyte; Jannin, Arnaud; Lemaître, Madleen; Cao, Christine Do; Cardot-Bauters, Catherine; Espiard, Stéphanie; Vantyghem, M. C.

doi:10.3389/fendo.2021.678869

Cited by 3 publications

(1 citation statement)

References 195 publications

(244 reference statements)

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“…More significantly, 5–10% of VHL patients develop pancreatic tumors, which are most commonly non-secretory islet cell tumors known as pancreatic neuro-endocrine tumors (pNET) ( 143 ). Patients with missense mutations (type 2 VHL) exhibit a higher prevalence of pancreatic tumors and a hotspot on codons 161/67 in exon 3 is associated with higher risk of metastases compared to truncating mutations or large deletions (type 1 VHL) ( 144 ).…”

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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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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Familial Thyroid Cancer Syndromes in Children and Adolescents

Al-Naqeeb,

Baral,

Welch

et al. 2023

Familial Endocrine Cancer Syndromes

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Prevalence of Endocrine Manifestations and GIST in 108 Systematically Screened Patients With Neurofibromatosis Type 1

Dupuis

Chevalier

Cardot-Bauters

et al. 2023

Journal of the Endocrine Society

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Introduction In NF1 patients, guidelines suggest screening for pheochromocytoma by metanephrine measurement and abdominal imaging, that may lead to the discovery of gastroenteropancreatic neuroendocrine tumors (GEP-NET) and their differential diagnosis, gastro-intestinal stromal tumors (GIST). Other endocrine manifestations such as follicular thyroid carcinoma and primary hyperparathyroidism have also been reported in a few cases. This study aimed to describe prevalence and clinical presentation of these manifestations through a systematic screening in a large cohort of patients. Patients and Methods In this monocentric retrospective study, 108 NF1 patients were included and screened for endocrine manifestations and GIST. Clinical, laboratory, molecular profile, pathology and morphologic (abdominal CT-scan and/or MRI) and functional imaging were collected. Results Twenty-four patients (22.2% of the cohort, 16 female, mean age 42.6 years) presented with pheochromocytomas that were unilateral in 65.5%, benign in 89.7%, and with a ganglioneural component in 20.7%. Three female patients (2.8% of the cohort, aged 42 to 63 years) presented with well-differentiated GEP-NET, and four (3.7%) with GIST. One patient had primary hyperparathyroidism, one patient had medullary microcarcinoma, and 16 patients had goiter, multinodular in 10 cases. There was no correlation between pheochromocytoma and other NF1 tumoral manifestations, nor correlations between pheochromocytoma and NF1 genotype, despite a familial clustering in one-third of patients. Discussion The pheochromocytoma prevalence in this NF1 cohort was higher (> 20%) than previously described, confirming the interest of systematic screening, especially in young women. The prevalence of GEP-NET and GIST was about 3%, respectively. No phenotype-genotype correlation was observed.

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Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Cited by 3 publications

References 195 publications

Hypoxia signaling pathway: A central mediator in endocrine tumors

Hypoxia signaling pathway: A central mediator in endocrine tumors

Familial Thyroid Cancer Syndromes in Children and Adolescents

Prevalence of Endocrine Manifestations and GIST in 108 Systematically Screened Patients With Neurofibromatosis Type 1

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