Von Recklinghausen′s Disease and Pheochromocytomas

Walther, McClellan M.; Herring, Judi; Enquist, Erik; Keiser, Harry R.; Linehan, W. Marston

doi:10.1016/s0022-5347(05)68171-2

Cited by 312 publications

(185 citation statements)

References 78 publications

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“…This may be, at least partly, explained by the lack of symptoms (84% of asymptomatic PHEO) and the non-secreting nature of a large part of detected PHEO (50%), already described in 2013 by Haissaguerre et al (11) in a retrospective study performed in sporadic PHEO. In the literature, the age at onset of PHEO is typically the fourth decade of life, both in NF1-associated and sporadic cases (12,13), without influence of gender. In our study, age at diagnosis is a little bit higher, at 55.3 ± 13.7 years, for secreting PHEO and 53.2 ± 15.9 years for non-secreting PHEO, without significant difference.…”

Section: Discussionmentioning

confidence: 99%

“…Discordant results have been reported on the prevalence of malignant PHEO in NF1. In large series, the metastatic potential of PHEO was estimated to be around 10% (12,14). By contrast, Zinnamosca et al in 2011 (9) found no malignant PHEO in a small series of 48 patients.…”

Section: :4mentioning

confidence: 94%

“…It is crucial to identify these tumors for several reasons (7). First, PHEOs are classically recurrent in genetic syndrome, including NF1, with a proportion between 10 and 20% (9,12,14). Therefore, adrenocortical sparing surgery represents a major concern and has gained popularity in the last few years in various indications (38,39,40).…”

Section: :4mentioning

confidence: 99%

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Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1

Képénékian

Mognetti

Lifante

et al. 2016

European Journal of Endocrinology

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Objective: Pheochromocytoma (PHEO) may occur in 0.1-5.7% of patients presenting with a neurofibromatosis type 1 (NF1). Current recommendations are to explore only symptomatic patients. The objective of the study is to evaluate the prevalence and the interest of a systematic PHEO screening in this population. Design: A prospective study in a French tertiary center including consecutive NF1 patients older than 18 years. Methods: A systematic screening combining abdominal imaging and urinary fractionated metanephrines was proposed. In case of positivity of one or both exams, 123 I-metaiodobenzylguanidine scintigraphy or [ 18 F]-fluoro-dihydroxyphenylalanine PET imaging was performed. The diagnosis of secreting PHEO was retained in case of elevated urinary metanephrines associated with positive scintigraphy and non-secreting PHEO when urinary metanephrines were normal with a positive scintigraphy. Results: Between January 2014 and August 2015, 234 patients were included and 156 patients (66.7%) completed both exams. In these 156 patients, 12 PHEOs were diagnosed, representing a prevalence of 7.7%. Of these, six PHEOs were secreting, with only two symptomatic patients. The tumor size of these PHEOs were bigger than that of non-secreting PHEO (25.2 ± 6.6 vs 14 ± 6.9 mm, P = 0.0165). One lesion was bilateral. Mean metanephrine and normetanephrine levels were 3.2 ± 2.6 N and 2.8 ± 1 N respectively. Three patients underwent surgery. The six patients with non-secreting PHEO were asymptomatic. One of them had bilateral lesion and one underwent surgery. Conclusions: PHEO in NF1, whether or not secreting, are mostly asymptomatic. The current strategy to explore only symptomatic patients leads to an underestimation of prevalence with the risks inherent to the existence of an unrecognized PHEO.

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Section: Discussionmentioning

confidence: 99%

Section: :4mentioning

confidence: 94%

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Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1

Képénékian

Mognetti

Lifante

et al. 2016

European Journal of Endocrinology

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“…It has been usually described in adult NF1 patients. This percentage rises up to 20-50% among hypertensive NF1 subjects compared to 0.1% of all hypertensive patients [50]. Biochemical screening to exclude or confirm PHEO is recommended in patients with NF1 in case of development of hypertension or other suggestive symptoms [50,51].…”

Section: Pheochromocytomamentioning

confidence: 99%

“…This percentage rises up to 20-50% among hypertensive NF1 subjects compared to 0.1% of all hypertensive patients [50]. Biochemical screening to exclude or confirm PHEO is recommended in patients with NF1 in case of development of hypertension or other suggestive symptoms [50,51]. Symptoms and signs of PHEO result from release of catecholamines and include the classical ‘three H' of hypertension, headaches and hyperhidrosis as well as palpitations and weight loss [52].…”

Section: Pheochromocytomamentioning

confidence: 99%

Endocrine Implications of Neurofibromatosis 1 in Childhood

Bizzarri

Bottaro

2015

Horm Res Paediatr

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In 1882, von Recklinghausen described a group of patients with multiple tumors arising from the ‘endoneurium' of peripheral nerves, and called them ‘neurofibromas'. The term von Recklinghausen disease was used up to the end of the 20th century, when the gene of neurofibromatosis (NF1) was cloned on chromosome 17q11.2. The gene product is a cytoplasmic protein termed neurofibromin, regulating proliferation and maturation of both glial and neuronal progenitors during embryogenesis. Loss of neurofibromin function determines the hyperactivation of the proto-oncogene RAS, leading to an increased risk of tumor formation, predominantly affecting the skin, bone and the nervous system. NF1 is clinically and genetically distinct from neurofibromatosis type 2, characterized by bilateral vestibular schwannomas and other nervous system tumors. An increased incidence of central precocious puberty, diencephalic syndrome, GH deficiency and GH hypersecretion has been described in NF1 children. These conditions are commonly complications of optic pathway gliomas (OPG) involving the hypothalamic and sellar region. Nevertheless, these endocrine disorders have been observed also in children without evidence of OPG at magnetic resonance imaging. Clinical and laboratory follow-up is crucial in all children with NF1, particularly in those with an OPG, aiming at the early identification of signs suggestive of secondary endocrine alterations.

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Pheochromocytoma

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Von Recklinghausen′s Disease and Pheochromocytomas

Cited by 312 publications

References 78 publications

Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1

Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1

Endocrine Implications of Neurofibromatosis 1 in Childhood

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