Neurofibromatosis type 1 associated with pheochromocytoma: A case report and a review of the literature

Erem, Cihangir; Ersöz, Halil Önder; Ükinç, Kubilay; Hacıhasanoğlu, Arif; Alhan, Etem; Çobanoğlu, Ümi̇t; Koçak, Mustafa; Erdöl, Hidayet

doi:10.1007/bf03347397

Cited by 19 publications

(7 citation statements)

References 35 publications

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“…320 PCC has also been well described in patients with NF-1, although exact incidences are difficult FROM THE AMERICAN ACADEMY OF PEDIATRICS 26 to determine, and patients may not have classic symptoms of PCC. 321,322 Vascular causes of HTN and PCC all require specific treatment and follow-up, so maintaining a high index of suspicion for these disorders is important in evaluating hypertensive children and adolescents with NF-1.…”

Section: Secondary Causes: Neurofibromatosismentioning

confidence: 99%

Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents

et al. 2017

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These pediatric hypertension guidelines are an update to the 2004 "Fourth Report on the Diagnosis, Evaluation, and Treatment of High Blood Pressure in Children and Adolescents." Significant changes in these guidelines include (1) the replacement of the term "prehypertension" with the term "elevated blood pressure," (2) new normative pediatric blood pressure (BP) tables based on normal-weight children, (3) a simplified screening table for identifying BPs needing further evaluation, (4) a simplified BP classification in adolescents ≥13 years of age that aligns with the forthcoming American Heart Association and American College of Cardiology adult BP guidelines, (5) a more limited recommendation to perform screening BP measurements only at preventive care visits, (6) streamlined recommendations on the initial evaluation and management of abnormal BPs, (7) an expanded role for ambulatory BP monitoring in the diagnosis and management of pediatric hypertension, and (8) revised recommendations on when to perform echocardiography in the evaluation of newly diagnosed hypertensive pediatric patients (generally only before medication initiation), along with a revised definition of left ventricular hypertrophy. These guidelines include 30 Key Action Statements and 27 additional recommendations derived from a comprehensive review of almost 15 000 published articles between January 2004 and July 2016. Each Key Action Statement includes level of evidence, benefit-harm relationship, and strength of recommendation. This clinical practice guideline, endorsed by the American Heart Association, is intended to foster a patient- and family-centered approach to care, reduce unnecessary and costly medical interventions, improve patient diagnoses and outcomes, support implementation, and provide direction for future research.

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Section: Secondary Causes: Neurofibromatosismentioning

confidence: 99%

Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents

et al. 2017

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“…However, only 2/74 female (2.7%) cases in our cohort developed ductal type breast cancer between the ages of 34 and 41 years. Phaechromocytomas and catecholamine-secreting tumors of the neural crest are rare tumors in the general population and occur in 0.1% to 5.7% [40] of patients with NF1. In a recent study, a higher prevalence of 14.7% was noted [41].…”

Section: Discussionmentioning

confidence: 99%

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

et al. 2012

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Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical variability. The establishment of genotype-phenotype associations in NF1 is potentially useful for targeted therapeutic intervention but has generally been unsuccessful, apart from small subsets of molecularly defined patients. The objective of this study was to evaluate the clinical phenotype associated with the specific types of NF1 mutation in a retrospectively recorded clinical dataset comprising 149 NF1 mutation-known individuals from unrelated families. Each patient was assessed for ten NF1-related clinical features, including the number of café-au-lait spots, cutaneous and subcutaneous neurofibromas and the presence/absence of intertriginous skin freckling, Lisch nodules, plexiform and spinal neurofibromas, optic gliomas, other neoplasms (in particular CNS gliomas, malignant peripheral nerve sheath tumors (MPNSTs), juvenile myelomonocytic leukemia, rhabdomyosarcoma, phaechromocytoma, gastrointestinal stromal tumors, juvenile xanthogranuloma, and lipoma) and evidence of learning difficulties. Gender and age at examination were also recorded. Patients were subcategorized according to their associated NF1 germ line mutations: frame shift deletions (52), splice-site mutations (23), nonsense mutations (36), missense mutations (32) and other types of mutation (6). A significant association was apparent between possession of a splice-site mutation and the presence of brain gliomas and MPNSTs (p = 0.006). If confirmed, these findings are likely to be clinically important since up to a third of NF1 patients harbor splice-site mutations. A significant influence of gender was also observed on the number of subcutaneous neurofibromas (females, p = 0.009) and preschool learning difficulties (females, p = 0.022).

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“…In addition, 57% of patients exhibited the clinical features of high catecholamine concentration, including headache, heart palpitations, sweating and hypertension. In previous reports of clinical cases, paroxysmal hypertension was observed in the majority of NF1-PHEO patients; these results suggest that the periodic evaluation of NF1 patients with hypertension for the presence of PHEO is necessary (21)(22)(23)(24). The development of PHEO may be associated with the type of NF1 expression.…”

Section: Discussionmentioning

confidence: 93%

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 associated with pheochromocytoma: A case report and a review of the literature

Cited by 19 publications

References 35 publications

Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents

Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

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

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