Limits...
Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches.

Costa MH, Ortiga-Carvalho TM, Violante AD, Vaisman M - Front Endocrinol (Lausanne) (2015)

Bottom Line: A great majority of PCCs and PGLs are sporadic and benign tumors; however, the classic idea of 10% exception of these features is changing.The description of new genes linked to familial forms of PCC/PGLs, such as succinate dehydrogenase (SDH) complex subunits, KIF1Bβ, EGLN1, TMEM127, and MAX, added to the well-known PCC familial syndrome (MEN2, VHL, and neurofibromatosis type 1) presents new challenges for diagnosis.In this review, we discuss the diversity of clinical and genetic approaches to this syndrome as well the diverse criteria that should guide genetic investigation.

View Article: PubMed Central - PubMed

Affiliation: Division of Endocrinology, Federal University of the State of Rio de Janeiro , Rio de Janeiro , Brazil.

ABSTRACT
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors derived from the chromaffin tissue. Diagnosis of these tumors is extremely important as they are linked to the hypertension syndrome with great cardiovascular morbidity and mortality. A great majority of PCCs and PGLs are sporadic and benign tumors; however, the classic idea of 10% exception of these features is changing. The description of new genes linked to familial forms of PCC/PGLs, such as succinate dehydrogenase (SDH) complex subunits, KIF1Bβ, EGLN1, TMEM127, and MAX, added to the well-known PCC familial syndrome (MEN2, VHL, and neurofibromatosis type 1) presents new challenges for diagnosis. In this review, we discuss the diversity of clinical and genetic approaches to this syndrome as well the diverse criteria that should guide genetic investigation.

No MeSH data available.


Related in: MedlinePlus

Algorithm proposed for genetic testing for pheochromocytomas and paragangliomas patients. The gene described might be considered for testing in this order. Mutations in TMEM127, MAX, HIF2A, and SDHAF2 are quite rare and should be contemplated in patients with negative test for the other genes.
© Copyright Policy
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4538298&req=5

Figure 2: Algorithm proposed for genetic testing for pheochromocytomas and paragangliomas patients. The gene described might be considered for testing in this order. Mutations in TMEM127, MAX, HIF2A, and SDHAF2 are quite rare and should be contemplated in patients with negative test for the other genes.

Mentions: For family diseases, such as MEN2A/B, NF1, and VHL, a phenotype suspicion, because they are commonly associated to other tumors, helps to direct to genetic studies. The presence of hemangioblastomas calls attention for VHL disease, as the association of medullary thyroid carcinoma for MEN2. MEN2-associated tumors always produce epinephrine and can be uni- or bilateral, but malignant disease and extra-adrenal tumors are rare in this syndrome. PCCs in VHL always secrete NE and can be extra-adrenal. The biochemical profile, as shown in Figure 2, is very relevant to help and guide the genetic test. Diagnosis of NF1 is based on clinical features, and genetic testing is usually not required, because NF1 is a large gene, costly, and difficult to screen.


Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches.

Costa MH, Ortiga-Carvalho TM, Violante AD, Vaisman M - Front Endocrinol (Lausanne) (2015)

Algorithm proposed for genetic testing for pheochromocytomas and paragangliomas patients. The gene described might be considered for testing in this order. Mutations in TMEM127, MAX, HIF2A, and SDHAF2 are quite rare and should be contemplated in patients with negative test for the other genes.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4538298&req=5

Figure 2: Algorithm proposed for genetic testing for pheochromocytomas and paragangliomas patients. The gene described might be considered for testing in this order. Mutations in TMEM127, MAX, HIF2A, and SDHAF2 are quite rare and should be contemplated in patients with negative test for the other genes.
Mentions: For family diseases, such as MEN2A/B, NF1, and VHL, a phenotype suspicion, because they are commonly associated to other tumors, helps to direct to genetic studies. The presence of hemangioblastomas calls attention for VHL disease, as the association of medullary thyroid carcinoma for MEN2. MEN2-associated tumors always produce epinephrine and can be uni- or bilateral, but malignant disease and extra-adrenal tumors are rare in this syndrome. PCCs in VHL always secrete NE and can be extra-adrenal. The biochemical profile, as shown in Figure 2, is very relevant to help and guide the genetic test. Diagnosis of NF1 is based on clinical features, and genetic testing is usually not required, because NF1 is a large gene, costly, and difficult to screen.

Bottom Line: A great majority of PCCs and PGLs are sporadic and benign tumors; however, the classic idea of 10% exception of these features is changing.The description of new genes linked to familial forms of PCC/PGLs, such as succinate dehydrogenase (SDH) complex subunits, KIF1Bβ, EGLN1, TMEM127, and MAX, added to the well-known PCC familial syndrome (MEN2, VHL, and neurofibromatosis type 1) presents new challenges for diagnosis.In this review, we discuss the diversity of clinical and genetic approaches to this syndrome as well the diverse criteria that should guide genetic investigation.

View Article: PubMed Central - PubMed

Affiliation: Division of Endocrinology, Federal University of the State of Rio de Janeiro , Rio de Janeiro , Brazil.

ABSTRACT
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors derived from the chromaffin tissue. Diagnosis of these tumors is extremely important as they are linked to the hypertension syndrome with great cardiovascular morbidity and mortality. A great majority of PCCs and PGLs are sporadic and benign tumors; however, the classic idea of 10% exception of these features is changing. The description of new genes linked to familial forms of PCC/PGLs, such as succinate dehydrogenase (SDH) complex subunits, KIF1Bβ, EGLN1, TMEM127, and MAX, added to the well-known PCC familial syndrome (MEN2, VHL, and neurofibromatosis type 1) presents new challenges for diagnosis. In this review, we discuss the diversity of clinical and genetic approaches to this syndrome as well the diverse criteria that should guide genetic investigation.

No MeSH data available.


Related in: MedlinePlus