Pheochromocytoma and Paraganglioma in Children: A Review of Medical and Surgical Management at a Tertiary Care Center

Pham, Tuan H.; Moir, Christopher R.; Thompson, Geoffrey B.; Zarroug, Abdalla E.; Hamner, Chad E.; Farley, David R.; Heerden, Jon van; Lteif, Aida; Young, William F.

doi:10.1542/peds.2005-2299

Cited by 150 publications

(138 citation statements)

References 36 publications

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“…Children usually suffer from symptomatic and potentially life-threatening occurrence with bilateral and extraadrenal tumors (Stackpole et al 1963, Ein et al 1990, Ciftci et al 2001, Barontini et al 2006. Prevalence of hereditary and malignant tumors is controversial, but of utmost importance for quality-of-life considerations and survivorship (Ross 2000, Barontini et al 2006, De Krijger et al 2006, Pham et al 2006, King et al 2011. So far, no data from large population-based registries or long-term surveillance are available.…”

Section: Introductionmentioning

confidence: 99%

“…So far, no data from large population-based registries or long-term surveillance are available. Reports focused on pediatric patients are mostly based on few cases (Stackpole et al 1963, Kaufman et al 1983, Ein et al 1990, Ross 2000, Ciftci et al 2001, Barontini et al 2006, De Krijger et al 2006, Pham et al 2006, King et al 2011. Therefore, we sought to systematically perform molecular and clinical characterization of pediatric pheochromocytoma and paraganglioma to determine the long-term prognosis and outcomes in an international population-based registry.…”

Section: Introductionmentioning

confidence: 99%

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Long-term prognosis of patients with pediatric pheochromocytoma

Bausch¹,

Wellner²,

Bausch³

et al. 2013

Endocrine-Related Cancer

136

180

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A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for long-term prognosis are scarce in pediatric presentations. The European-American-PheochromocytomaParaganglioma-Registry, with a total of 2001 patients with confirmed paraganglial tumors, was the platform for this study. Molecular genetic and phenotypic classification and assessment of gene-specific long-term outcome with second and/or malignant paraganglial tumors and life expectancy were performed in patients diagnosed at !18 years. Of 177 eligible registrants, 80% had mutations, 49% VHL, 15% SDHB, 10% SDHD, 4% NF1, and one patient each in RET, SDHA, and SDHC. A second primary paraganglial tumor developed in

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Long-term prognosis of patients with pediatric pheochromocytoma

Bausch¹,

Wellner²,

Bausch³

et al. 2013

Endocrine-Related Cancer

136

180

View full text Add to dashboard Cite

show abstract

“…PGL3 is mainly characterized by single HN-PGL (Schiavi et al 2005) but the occurrence of abdominal sPGL has also been reported (Mannelli et al 2007). PGL4 presents sPGL, which, at variance with tumors developed in PGL1 and PGL3, is malignant in more than 30% of cases, leading to metastatic disease (Linnoila et al 1990, Amar et al 2005, Pham et al 2006, Timmers et al 2007.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers

Rapizzi¹,

Ercolino²,

Canu³

et al. 2012

Endocrine-Related Cancer

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To date, the consequences of succinate dehydrogenase (SDH) impairment on overall mitochondrial functions are still obscure. In this study, we evaluated SDH activity and expression and mitochondrial homeostasis in 57 tissue samples of pheochromocytoma (PHEO)/ paraganglioma (PGL) obtained from patients genotyped for PHEO/PGL susceptibility genes. The resulted SDH activity and content always decreased in SDH-mutated tumors, in one out of two MAX-mutated patients and in four patients resulted wild type (wt) at genetic screening. All these four wt patients were further screened for large deletions in SDH genes, TMEM127 and MAX and resulted wt but two had somatic SDHD mutations. The RT-PCR in the MAX-mutated sample suggests that the decrease in SDH depends on complex instability and not on a reduced SDHB expression. SDH mutations neither alter citrate synthase (CS) activity nor the content of voltage-dependent anion channel (VDAC) while the expression of the mitochondrial complex IV (cytochrome c oxidase (COX)) was found extremely variable in all (mutated and wt) samples suggesting an impairment of mitochondrial cristae in these tumors. In conclusion, tumors from patients with germ line SDH mutations invariably show decreased enzymatic activity and content, but an SDH impairment may also depend on SDH somatic mutations or, seemingly, on MAX mutations. The impaired SDH activity in the two wt tissues suggests mutations in other still unknown susceptibility genes. Finally, the extreme variability in COX expression levels is yet to be explained and this strongly suggests to evaluate other mitochondrial features to better understand the mitochondrial role in the pathogenesis of these tumors.

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“…Estima-se uma taxa de recorrência de 1/100 casos (sendo mais de 40% destas recorrências correpondentes a casos de malignidade) [7,52]. Sendo assim, recomenda-se em todos os pacientes uma monitorização laboratorial anual (metanefrinas plasmáticas ou urinárias e cromogranina A) e com exames de imagem (ponderar a realização de ressonância magnética tóraco-abdomino-pélvica a cada um ou dois anos) [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25].…”

Section: /10unclassified

“…É um tumor raro na idade pediátrica, com uma prevalência estimada de 1:100.000 [6]. Na infância, a incidência de feocromocitoma é maior no sexo masculino, padrão que tende a reverter na adolescência, provavelmente devido às influências hormonais [7][8][9][10][11][12]. É comum a presença de síndromes familiares genéticas, autossômicas dominantes ou resultantes de mutações espontâneas, que aumentam a predisposição para o desenvolvimento de feocromocitomas, pela alteração do percursor da apoptose da célula neuronal simpá-tica [7,8,10,13].…”

Section: Introductionunclassified

Quando hipertensão arterial persistente no adolescente tem uma origem endócrina rara: relato de dois casos e revisão da literatura

Gomes

Laranjo

Santos

et al. 2017

Sci Med

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Este artigo está licenciado sob forma de uma licença Creative Commons Atribuição 4.0 Internacional, que permite uso irrestrito, distribuição e reprodução em qualquer meio, desde que a publicação original seja corretamente citada. ABSTRACT AIMS: To report two clinical cases of pheochromocytoma, a rare tumor in the pediatric population, that affects the adrenal medulla, is malignant in up to 47% of cases, and whose clinical manifestations result from hypersecretion of catecholamines. CASE DESCRIPTION: Two cases of pheochromocytoma in adolescents are described, both with persistent hypertension and one with headache, sweating, and tachycardia. Renal and adrenal ultrasound, computed tomography angiography, and measurements of catecholamines and their metabolites revealed pheochromocytoma in the left adrenal gland. Adrenalectomy was performed after pretreatment with α-blockers. Pathological examination confirmed the diagnosis. Blood pressure returned to normal in both patients after treatment. CONCLUSIONS: Pheochromocytoma has a varied and nonspecific clinical presentation, but this condition should always be considered in the differential diagnosis of high blood pressure. Early diagnosis may imply a less aggressive treatment, lower morbidity, and a lesser impact on patients' quality of life. The high likelihood of recurrence of pheochromocytoma, including as metastatic disease, requires follow-up visits for several years after its initial clinical presentation, even in the case of an apparent cure.

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Pheochromocytoma and Paraganglioma in Children: A Review of Medical and Surgical Management at a Tertiary Care Center

Cited by 150 publications

References 36 publications

Long-term prognosis of patients with pediatric pheochromocytoma

Long-term prognosis of patients with pediatric pheochromocytoma

Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers

Quando hipertensão arterial persistente no adolescente tem uma origem endócrina rara: relato de dois casos e revisão da literatura

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