A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Pereira, Bernardo Dias; Silva, Tiago Nunes da; Bernardo, Ana Teresa; César, Rui; Luiz, Henrique Vara; Pacák, Karel; Mota-Vieira, Luísa

doi:10.1155/2018/8470642

Cited by 12 publications

(6 citation statements)

References 117 publications

(321 reference statements)

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“…In addition, 26.7% of the patients in our study were diagnosed with bilateral PCCs or syndromic tumors plus PCCs that involved genetic mutations. It has been (23). We do believe that and our work strengthened the importance of genetic testing in pediatric PCCs/PGLs patients regardless of a lack of family history because of the high percentage of germline genetic mutations and generelated morbidity.…”

Section: Discussionmentioning

confidence: 63%

Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China

Wang

Liu

et al. 2020

Transl Androl Urol

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Background: Although 40% to 80% of pediatric patients with pheochromocytoma (PCC) and paraganglioma (PGL) have been reported to carry germline mutations, the genetic and clinical features are poorly understood, and few such patients have undergone genetic testing. In this series, we aimed to investigate the clinical and genetic features of Han Chinese pediatric patients with PCC/PGL. Methods:The medical records of 15 pediatric patients with PCC/PGL who presented to our hospital between 2006 and 2018 were retrospectively studied. DNAs isolated from leukocytes of the patients were analyzed using whole-exome sequencing (WES).Results: The patients were nine girls and six boys with a mean age of 14.9 (range, 6-18) years. All were alive after a follow-up from 1 to 12 years, although two were diagnosed with pulmonary metastatic PGLs.Four patients were diagnosed with bilateral PCCs. Four patients were diagnosed with tumor syndromes.Among the 15 patients, nine were identified carrying germline mutations, of which seven were VHL and one each of RET and SDHB. In addition, a de novo mutation, VHL c.193T>A, was identified in a patient clinically diagnosed with a VHL syndrome.Conclusions: Among 15 pediatric patients studied, nine were identified carrying germline genetic mutations, four were diagnosed with bilateral PCCs, and four were diagnosed with other syndromic tumors in addition to PCC, which underscores the importance of genetic testing and managing treatment accordingly.

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Section: Discussionmentioning

confidence: 63%

Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China

Wang

Liu

et al. 2020

Transl Androl Urol

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“…A recent study proposed 68 Ga-DOTATATE PET/ CT as a first-line imaging modality due to its high affinity for somatostatin receptors, which are prevalent in neuroendocrine tumors like PCC and PGL, and its superior sensitivity compared to 18F-FDG PET/CT and 123 I-MIBG [46]. Genetic testing to identify common susceptibility genes is advised for all pediatric cases of PCC/PGL [44,47]. In pediatric patients with PCC/PGL, up to 80% of cases are linked to a hereditary predisposition syndrome, such as Von Hippel-Lindau disease, multiple endocrine neoplasia type 2, neurofibromatosis type 1, and familial PGL syndromes types 1 to 5.…”

Section: Pheochromocytoma and Paragangliomamentioning

confidence: 99%

Pediatric Endocrine Hypertension Related to the Adrenal Glands

Kim,

Kim

2023

Ewha Med J

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Endocrine causes of pediatric hypertension are relatively rare but important because of their distinct treatment options. Adrenal diseases accompanied by an excess of mineralocorticoids, glucocorticoids, and catecholamines are major causes of endocrine hypertension. Typical causes of mineralocorticoidrelated hypertension include primary aldosteronism, congenital adrenal hyperplasia (11β-and 17 α-hydroxylase deficiencies), and apparent mineralocorticoid excess. Cushing syndrome and pheochromocytoma/paraganglioma are the primary causes of glucocorticoid-and catecholaminerelated hypertension, respectively. This review provides an overview of the diagnostic evaluations, including hormonal assays and imaging studies, used to identify the underlying causes of pediatric endocrine hypertension, focusing on adrenal disorders. It presents details regarding the major adrenal disorders and recommended therapeutic approaches, emphasizing the importance of early detection and disease-specific management to prevent cardiovascular and metabolic complications in affected children.

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“…Different tests of the same gene have varying levels of sensitivity and specificity. In addition, genetic heterogeneity makes the selection of the best genetic test challenging (Table 2) [28][29][30][31][32][33][34][35][36].…”

Section: Genetic Testingmentioning

confidence: 99%

Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes

2021

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Introduction Although current guidelines prefer the use of targeted testing or small-scale gene panels for identification of genetic susceptibility of hereditary endocrine tumour syndromes, next generation sequencing based strategies have been widely introduced into every day clinical practice. The application of next generation sequencing allows rapid testing of multiple genes in a cost effective manner. Increasing knowledge about these techniques and the demand from health care providers and society, shift the molecular genetic testing towards using high-throughput approaches. Purpose In this expert opinion, the authors consider the molecular diagnostic workflow step by step, evaluating options and challenges of gathering family information, pre- and post-test genetic counselling, technical and bioinformatical analysis related issues and difficulties in clinical interpretation focusing on molecular genetic testing of hereditary endocrine tumour syndromes. Result and conclusion Considering all these factors, a diagnostic genetic workflow is also proposed for selection of the best approach for testing of patients with hereditary genetic tumour syndromes in order to minimalize difficult interpretation, unwanted patient anxiety, unnecessary medical interventions and cost. There are potential benefits of utilizing high throughput approaches however, important limitations have to be considered and should discussed towards the clinicians and patients.

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A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Cited by 12 publications

References 117 publications

Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China

Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China

Pediatric Endocrine Hypertension Related to the Adrenal Glands

Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes

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