Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects

Zinnamosca, Laura; Petramala, Luigi; Cotesta, Dario; Marinelli, C.; Schina, Mauro; Cianci, Rosario; Giustini, Sandra; Sciomer, Susanna; Anastasi, Emanuela; Calvieri, Stefano; Toma, Giorgio De; Letizia, Claudio

doi:10.1007/s00403-010-1090-z

Cited by 88 publications

(96 citation statements)

References 37 publications

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“…A summary of a thorough review (Walther et al 1999a) together with more recent studies (Amar et al 2005, Bausch et al 2007, Mannelli et al 2009, Zinnamosca et al 2011, including a total of 216 NF1 patients with PCC or PGL, showed that 95% of the patients had PCC and 6% had PGL, all of which were sympathetic. Fourteen percent of the patients displayed bilateral PCC, 9% developed malignant disease, and the mean age at presentation was 42 years.…”

Section: Nf1 Syndromementioning

confidence: 99%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

311

321

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Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background of the tumors. By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these tumors is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC-PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, Carney-Stratakis syndrome, and MEN1. The review also covers the most recently discovered susceptibility genes including KIF1Bb, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form. Further, the latest advances in elucidating the cellular pathways involved in PCC and PGL development are discussed in detail. Finally, an algorithm for genetic testing in patients with PCC and PGL is proposed.

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Section: Nf1 Syndromementioning

confidence: 99%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

311

321

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“…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%

“…As it is a rare tumor, screening is not recommended in asymptomatic patients (7,8). However, Zinnamosca et al (9) in 2011 found a PHEO prevalence of 14% in a population of 48 consecutive NF1 patients, suggesting an underestimation of the prevalence of these lesions in this population. The objective of the study was to evaluate the prevalence and the interest of a systematic screening of PHEO in a NF1 population.…”

Section: Introductionmentioning

confidence: 99%

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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“…In a study by Zinnamosca et al (21) of 48 patients with NF-1-related PHEO (NF1-PHEO) and an average age of 39 years, ~85% of patients had single adrenal tumors, whilst 15% had bilateral adrenal tumors. In addition, 57% of patients exhibited the clinical features of high catecholamine concentration, including headache, heart palpitations, sweating and hypertension.…”

Section: Discussionmentioning

confidence: 99%

Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review

2016

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Abstract. Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neurofibromin 1 (NF1) gene mutation, which generates an increased risk of variety of tumor types. The current study reports a case involving NF1, pheochromocytoma (PHEO) and gastrointestinal stromal tumors (GIST). A 56-year-old man presented with abdominal pain and polypnea. Clinical investigation revealed multiple diffuse soft-tissue lesions throughout his body, and pigmented macules on the skin. Imaging analyses revealed thoracic scoliosis, multiple subcutaneous nodules in the abdomen and trunk, and a 7.0x7.7x8.9-cm oval-shaped, cystic mass in the left upper abdominal cavity. Immunohistochemical staining indicated that S-100 protein and synaptophysin were highly expressed in adrenal gland neoplasm, whilst CD117 and CD34 were highly expressed in small intestine tumors. The overall clinical and pathological finding suggested a diagnosis of NF1, giant PHEO and small intestinal stromal tumor. In addition, a literature review was conducted to identify the specific clinical features of patients with this condition. Only 11 similar cases have been reported worldwide. In the present study, paroxysmal hypertension occurred in the majority of patients, and GISTs tended to be located in the small intestine. In addition, the present study demonstrated that many of the patients had a poor prognosis. Therefore, the present study indicates that NF1-PHEO-GIST is a special type tumor with varied clinical symptoms, which may be associated with an increased risk for poor prognosis; however, more studies are required to confirm this.

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Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects

Cited by 88 publications

References 37 publications

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

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

Neurofibromatosis type 1 associated with pheochromocytoma and gastrointestinal stromal tumors: A case report and literature review

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