A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?
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...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2018/8470642 |
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| author | Bernardo Dias Pereira Tiago Nunes da Silva Ana Teresa Bernardo Rui César Henrique Vara Luiz Karel Pacak Luísa Mota-Vieira |
| author_facet | Bernardo Dias Pereira Tiago Nunes da Silva Ana Teresa Bernardo Rui César Henrique Vara Luiz Karel Pacak Luísa Mota-Vieira |
| author_sort | Bernardo Dias Pereira |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4bbf2f2d0848463dbe8bcf7659822c08 |
| institution | OA Journals |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-4bbf2f2d0848463dbe8bcf7659822c082025-08-20T02:38:41ZengWileyInternational Journal of Endocrinology1687-83371687-83452018-01-01201810.1155/2018/84706428470642A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?Bernardo Dias Pereira0Tiago Nunes da Silva1Ana Teresa Bernardo2Rui César3Henrique Vara Luiz4Karel Pacak5Luísa Mota-Vieira6Serviço de Endocrinologia e Nutrição, Hospital do Divino Espírito Santo de Ponta Delgada (EPER), Av. D. Manuel I, 9500-370 Ponta Delgada, Açores, PortugalServiço de Endocrinologia e Diabetes, Hospital Garcia de Orta (EPE), Av. Torrado da Silva, 2851-951 Almada, Setúbal, PortugalServiço de Cirurgia Geral, Hospital do Divino Espírito Santo de Ponta Delgada (EPER), Av. D. Manuel I, 9500-370 Ponta Delgada, Açores, PortugalServiço de Endocrinologia e Nutrição, Hospital do Divino Espírito Santo de Ponta Delgada (EPER), Av. D. Manuel I, 9500-370 Ponta Delgada, Açores, PortugalServiço de Endocrinologia e Diabetes, Hospital Garcia de Orta (EPE), Av. Torrado da Silva, 2851-951 Almada, Setúbal, PortugalSection on Medical Neuroendocrinology, Eunice Kennedy Shriver NICHD, NIH, Building 10 CRC 1E-3140 10 Center Drive MSC-1109, Bethesda, MD 20892-1109, USAUnidade de Genética e Patologia Moleculares, Hospital do Divino Espírito Santo de Ponta Delgada (EPER), Av. D. Manuel I, 9500-370 Ponta Delgada, Açores, PortugalPheochromocytoma 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.http://dx.doi.org/10.1155/2018/8470642 |
| spellingShingle | Bernardo Dias Pereira Tiago Nunes da Silva Ana Teresa Bernardo Rui César Henrique Vara Luiz Karel Pacak Luísa Mota-Vieira A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About? International Journal of Endocrinology |
| title | A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About? |
| title_full | A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About? |
| title_fullStr | A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About? |
| title_full_unstemmed | A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About? |
| title_short | A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About? |
| title_sort | clinical roadmap to investigate the genetic basis of pediatric pheochromocytoma which genes should physicians think about |
| url | http://dx.doi.org/10.1155/2018/8470642 |
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