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A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?
Joint Authors
Dias Pereira, Bernardo
Nunes da Silva, Tiago
Bernardo, Ana Teresa
César, Rui
Vara Luiz, Henrique
Pacak, Karel
Mota-Vieira, Luísa
Source
International Journal of Endocrinology
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-14, 14 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-03-20
Country of Publication
Egypt
No. of Pages
14
Main Subjects
Abstract EN
Pheochromocytoma is very rare at a pediatric age, and when it is present, the probability of a causative genetic mutation is high.
Due to high costs of genetic surveys and an increasing number of genes associated with pheochromocytoma, a sequential genetic analysis driven by clinical and biochemical phenotypes is advised.
The published literature regarding the genetic landscape of pediatric pheochromocytoma is scarce, which may hinder the establishment of genotype-phenotype correlations and the selection of appropriate genetic testing at this population.
In the present review, we focus on the clinical phenotypes of pediatric patients with pheochromocytoma in an attempt to contribute to an optimized genetic testing in this clinical context.
We describe epidemiological data on the prevalence of pheochromocytoma susceptibility genes, including new genes that are expanding the genetic etiology of this neuroendocrine tumor in pediatric patients.
The clinical phenotypes associated with a higher pretest probability for hereditary pheochromocytoma are presented, focusing on differences between pediatric and adult patients.
We also describe new syndromes, as well as rates of malignancy and multifocal disease associated with these syndromes and pheochromocytoma susceptibility genes published more recently.
Finally, we discuss new tools for genetic screening of patients with pheochromocytoma, with an emphasis on its applicability in a pediatric population.
American Psychological Association (APA)
Dias Pereira, Bernardo& Nunes da Silva, Tiago& Bernardo, Ana Teresa& César, Rui& Vara Luiz, Henrique& Pacak, Karel…[et al.]. 2018. A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?. International Journal of Endocrinology،Vol. 2018, no. 2018, pp.1-14.
https://search.emarefa.net/detail/BIM-1172175
Modern Language Association (MLA)
Dias Pereira, Bernardo…[et al.]. A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?. International Journal of Endocrinology No. 2018 (2018), pp.1-14.
https://search.emarefa.net/detail/BIM-1172175
American Medical Association (AMA)
Dias Pereira, Bernardo& Nunes da Silva, Tiago& Bernardo, Ana Teresa& César, Rui& Vara Luiz, Henrique& Pacak, Karel…[et al.]. A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?. International Journal of Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-14.
https://search.emarefa.net/detail/BIM-1172175
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1172175