Incidence and Mortality of Neurofibromatosis: A Total Population Study in Finland

Uusitalo, Elina; Leppävirta, Jussi; Koffert, Anna; Suominen, Sakari; Vahtera, Jussi; Vahlberg, Tero; Pöyhönen, Minna; Peltonen, Juha; Peltonen, Sirkku

doi:10.1038/jid.2014.465

Cited by 200 publications

(177 citation statements)

References 14 publications

(17 reference statements)

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“…At least 50% of cases present as de novo mutations of the gene and appear as isolated cases. NF1 has a birth incidence of one in 1,900 to 2,800 (20,21) and a diagnostic prevalence of one in 4,150 to 4,950 (20,21). The prevalence is lower than birth incidence due to undiagnosed cases in populations and an earlier mean age at death.…”

Section: Genetics and Epidemiologymentioning

confidence: 99%

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

Evans

Salvador

Chang

et al. 2017

Clinical Cancer Research

139

114

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Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particularly in children fulfilling only pigmentary features of the diagnostic criteria. Although cancer risk is not the major issue facing an individual with NF1 during childhood, the condition causes significantly increased malignancy risks compared with the general population. Specifically, NF1 is associated with highly elevated risks of juvenile myelomonocytic leukemia, rhabdomyosarcoma, and malignant peripheral nerve sheath tumor as well as substantial risks of noninvasive pilocytic astrocytoma, particularly optic pathway glioma (OPG), which represent a major management issue. Until 8 years of age, clinical assessment for OPG is advised every 6 to 12 months, but routine MRI assessment is not currently advised in asymptomatic individuals with NF1 and no signs of clinical visual pathway disturbance. Routine surveillance for other malignancies is not recommended, but clinicians and parents should be aware of the small risks (<1%) of certain specific individual malignancies (e.g., rhabdomyosarcoma). Tumors do contribute to both morbidity and mortality, especially later in life. A single whole-body MRI should be considered at transition to adulthood to assist in determining approaches to long-term follow-up. Clin Cancer Res; 23(12); e46–e53. ©2017 AACR. See all articles in the online-only CCR Pediatric Oncology Series.

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Section: Genetics and Epidemiologymentioning

confidence: 99%

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

Evans

Salvador

Chang

et al. 2017

Clinical Cancer Research

139

114

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“…Although estimates vary, it was recently suggested that the birth incidence may be as high as 1 in 2000 (1). NF1 is associated with several clinical manifestations, including benign and malignant tumors (2–7), cognitive delays, behavioral issues (8–10), autism (11, 12), and cardiovascular disease and abnormalities (13, 14).…”

mentioning

confidence: 99%

Racial/Ethnic Differences in Pediatric Brain Tumor Diagnoses in Patients with Neurofibromatosis Type 1

Abadin

Zoellner

Schaeffer

et al. 2015

The Journal of Pediatrics

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Objective To evaluate evidence for differences in pediatric brain tumor diagnoses by race and ethnicity using a cross-sectional study design in individuals with neurofibromatosis type 1 (NF1). Study design Subjects with NF1 were ascertained from the NF1 Patient Registry Initiative (NPRI) and through a clinical record database of patients at a large academic medical center. Logistic regression was employed to calculate odds ratios (ORs) and 95% confidence intervals (CIs) to analyze differences in the odds of brain tumor diagnosis by race (White, Black, Asian, Other/Unknown) and ethnic (Hispanic vs. non-Hispanic) groups. Results Data from a total of 1546, 629, and 2038 individuals who were ascertained from the NPRI, clinical records, and pooled datasets were analyzed, respectively. After adjusting for birth year, we observed a significantly reduced odds of brain tumor diagnoses in individuals self identified or clinically reported as Black (OR=0.13, 95% CI 0.05–0.31), Asian (OR=0.15, 95% CI 0.04–0.64), and Other/Unknown (OR=0.61, 95% CI 0.41–0.93) race compared with those with reported as White race. There was no significant difference in the odds of pediatric brain tumor diagnosis by Hispanic ethnicity. Conclusion Consistent with prior smaller studies, these data suggest that pediatric brain tumor diagnoses vary by race in individuals with NF1. Reasons underlying observed differences by race warrant further investigation.

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“…It has four main diagnostic signs which are visible in the skin, such as cafe´-au-lait spots, dermal neurofibromas, plexiform neurofibromas and axillary freckles. Among them, the first two are most common [2] . (Table 1) [9][10][11][12][13][14][15][16] .…”

Section: Discussionmentioning

confidence: 99%

“…The main clinical characteristics of the disease are cafe´-au-lait spots in the skin and dermal neurofibromas [2] .This multisystem disorder caused by a mutation in the NF 1 gene which has been identified on chromosome 17q11.2 [1] . The NF1 gene is a tumor suppressor, so the mutation of this gene results in loss of the corresponding protein function and the consequent development of benign or malignant tumors [3] .…”

Section: Introductionmentioning

confidence: 99%

A Case of Pancreatic Neuroendocrine Tumor presenting Iron Deficiency Anemia in a Patient with Neurofibromatosis Type 1

Sun¹,

Yu²,

Jiang³

et al. 2017

ijSciences

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Neurofibromatosis type 1 (NF1) is a dominantly inherited disease characterized by cafe´-au-lait spots in the skin and dermal neurofibromas. We report an unusual case of a 38-year-old women with NF1 presented with abdominal pain and iron deficiency anemia. Imaging studies revealed a lesion in the head of the pancreas. At surgery, a 20 mm neuroendocrine tumor was found in the head of the pancreas. We present this case of a patient with pancreatic neuroendocrine tumors (PNETs) associated with NF1 and review the literatures that have been reported to discuss the characteristics of these tumors to improve early differential.

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Incidence and Mortality of Neurofibromatosis: A Total Population Study in Finland

Cited by 200 publications

References 14 publications

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

Racial/Ethnic Differences in Pediatric Brain Tumor Diagnoses in Patients with Neurofibromatosis Type 1

A Case of Pancreatic Neuroendocrine Tumor presenting Iron Deficiency Anemia in a Patient with Neurofibromatosis Type 1

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