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

Clinical aspects to guide the screening for genetic abnormality include younger age of tumor appearance, positive family history, bilaterally multifocal tumors, and recurrence or malignancy.
© Copyright Policy
Related In: Results  -  Collection

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

Figure 1: Clinical aspects to guide the screening for genetic abnormality include younger age of tumor appearance, positive family history, bilaterally multifocal tumors, and recurrence or malignancy.

Mentions: The heterogeneity of PCCs/PGLs clinical presentation explains the reason why this disease frequently is not considered as a possible diagnose condition, though can provoke a life-threatening crisis. At that point, any patient with the clinical manifestations cited before should be included as a case suspicion and must be properly screened for PCCs. These tumors occur in any age, but predominantly between 40 and 50 years, with approximately equal sex distribution (9, 10). However, the age of appearance can change in hereditary tumors, and they often occur at an earlier age. A great majority of PCCs and PGLs are sporadic and benign tumors; however, the classic idea of the traditional 10% rule for these features is changing. Occurrence of hereditary-associated tumors has increased to 30%. Also, diagnosis of several syndromes, such as multiple endocrine neoplasia type 2 (MEN2), von Hippel–Lindau disease (VHL), and neurofibromatosis type 1, has increased. Recently, additional mutations in the succinate dehydrogenase (SDH) complex subunits, SDHA, SDHB, SDHC, SDHD, and SDHFA2, related to familial PCC–PGL and novel susceptibility genes, such as KIF1Bβ, EGLN1, TMEM127, and MAX, have led to the diagnosis of new phenotypes (11, 12). Patient criteria, such as younger age, positive familial history for PCC/PGL, tumor bilaterally/multifocal, and recurrence or malignancy, could guide selection of patients who may be under greater risk of genetic abnormality (Figure 1). Genetic tests are expensive, and therefore, the knowledge of links between specific clinical and biochemical phenotype and PCC/PGLs-related genes and syndromes could reduce the cost of genetic screening significantly. This review aims to provide an overview of the genetic susceptibility of these tumors, clarifying and reinforcing the importance of their diagnosis.


Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches.

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

Clinical aspects to guide the screening for genetic abnormality include younger age of tumor appearance, positive family history, bilaterally multifocal tumors, and recurrence or malignancy.
© Copyright Policy
Related In: Results  -  Collection

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

Figure 1: Clinical aspects to guide the screening for genetic abnormality include younger age of tumor appearance, positive family history, bilaterally multifocal tumors, and recurrence or malignancy.
Mentions: The heterogeneity of PCCs/PGLs clinical presentation explains the reason why this disease frequently is not considered as a possible diagnose condition, though can provoke a life-threatening crisis. At that point, any patient with the clinical manifestations cited before should be included as a case suspicion and must be properly screened for PCCs. These tumors occur in any age, but predominantly between 40 and 50 years, with approximately equal sex distribution (9, 10). However, the age of appearance can change in hereditary tumors, and they often occur at an earlier age. A great majority of PCCs and PGLs are sporadic and benign tumors; however, the classic idea of the traditional 10% rule for these features is changing. Occurrence of hereditary-associated tumors has increased to 30%. Also, diagnosis of several syndromes, such as multiple endocrine neoplasia type 2 (MEN2), von Hippel–Lindau disease (VHL), and neurofibromatosis type 1, has increased. Recently, additional mutations in the succinate dehydrogenase (SDH) complex subunits, SDHA, SDHB, SDHC, SDHD, and SDHFA2, related to familial PCC–PGL and novel susceptibility genes, such as KIF1Bβ, EGLN1, TMEM127, and MAX, have led to the diagnosis of new phenotypes (11, 12). Patient criteria, such as younger age, positive familial history for PCC/PGL, tumor bilaterally/multifocal, and recurrence or malignancy, could guide selection of patients who may be under greater risk of genetic abnormality (Figure 1). Genetic tests are expensive, and therefore, the knowledge of links between specific clinical and biochemical phenotype and PCC/PGLs-related genes and syndromes could reduce the cost of genetic screening significantly. This review aims to provide an overview of the genetic susceptibility of these tumors, clarifying and reinforcing the importance of their diagnosis.

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