Prevalence of neurofibromatosis type 1 in the Finnish population

Kallionpää, Roope A.; Uusitalo, Elina; Leppävirta, Jussi; Pöyhönen, Minna; Peltonen, Sirkku; Peltonen, Juha

doi:10.1038/gim.2017.215

Cited by 107 publications

(115 citation statements)

References 17 publications

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“…However, gender differences observed in our study and in previous pediatric cohorts may be compromised by sampling bias. Our recent study suggests that girls may be diagnosed with NF1 later than boys . Thus, girls with mild NF1 symptoms may more likely than boys be missing from pediatric cohorts.…”

Section: Discussionmentioning

confidence: 93%

“…The follow‐up was started at birth in order to cover the entire spectrum of childhood cancer in NF1. Because the diagnoses of the NF1 children born during the ascertainment period have been comprehensively established, restricting the analysis to only those born 1987–2011 should reduce the risk of missing patients. However, it is possible that we have missed some patients whose NF1 has not been diagnosed by the end of the ascertainment period because of mild symptoms.…”

Section: Data and Statistical Methodsmentioning

confidence: 99%

“…Neurofibromatosis type 1 (NF1; Mendelian Inheritance in Man, 162200) is a cancer predisposition syndrome with an incidence of 1:2,000 as reported in Finland, and a prevalence of 1:2,000–4,000 . The inheritance of NF1 follows an autosomal dominant trait, but in ~50% of the patients the syndrome is caused by a de novo mutation which may delay the diagnosis especially in children.…”

Section: Introductionmentioning

confidence: 99%

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Pediatric malignancies in neurofibromatosis type 1: A population‐based cohort study

Peltonen

Kallionpää

Rantanen

et al. 2019

Intl Journal of Cancer

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Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of 1:2,000. Patients with NF1 have an increased cancer risk and mortality, but there are no population‐based cohort studies specifically investigating the risk of childhood malignancies. We used the Finnish NF1 cohort to analyze the incidence, risk and prognosis of malignancies in NF1 patients <20 years of age. Persons born in 1987–2011 were included, and 524 persons were followed through the files of the Finnish Cancer Registry from birth up to age 20 years. This amounted to 8,376 person years. Fifty‐three patients had cancer <20 years of age, yielding a standardized incidence ratio (SIR) of 35.6. The most frequent location of pediatric cancers was the central nervous system (CNS); there were 45 cases and the SIR was 115.7. Exclusion of 22 optic pathway gliomas (OPGs) gave an SIR of 59.1 for the CNS and 21.6 for all cancers. There were nine malignant peripheral nerve sheath tumors (MPNSTs); their cumulative risk was 2.7% by age 20. No cases of leukemia were observed. NF1 patients showed considerable excess mortality with a standardized mortality ratio (SMR) of 73.1. The survival of NF1 patients with CNS tumors other than OPGs did not differ from that of non‐NF1 controls (HR 0.64, 95% CI 0.23 to 1.76). In conclusion, brain tumors in childhood and MPNSTs in adolescence are malignancies of major concern in patients with NF1. The risk for myeloid malignancies may not be as high as suggested in the literature.

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Section: Discussionmentioning

confidence: 93%

Section: Data and Statistical Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pediatric malignancies in neurofibromatosis type 1: A population‐based cohort study

Peltonen

Kallionpää

Rantanen

et al. 2019

Intl Journal of Cancer

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“…Most epidemiological studies have reported a prevalence ranging between 1/3000 and 1/6000 [1][2][3][4], and birth incidence estimates between 1/2558 and 1/3333 [1,2,[5][6][7]. Recent evidence revealed that NF1 is a much more common disorder than previously thought, with a birth incidence of 1:2000 [7] and a prevalence of 1/ 4000 [4]. NF1 is a multisystem genetic disease that is principally associated with cutaneous, neurologic, and orthopedic manifestations; some of which are progressive and lead to significant morbidity or mortality.…”

Section: Introductionmentioning

confidence: 99%

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Bergqvist

Servy

Valeyrie‐Allanore

et al. 2020

Orphanet J Rare Dis

118

113

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Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/ 6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to significant morbidity or mortality. Indeed, NF1 patients are at an increased risk of malignancy and have a life expectancy about 10-15 years shorter than the general population. The mainstay of management of NF1 is a patient-centered longitudinal care with age-specific monitoring of clinical manifestations, aiming at the early recognition and symptomatic treatment of complications as they occur. Protocole national de diagnostic et de soins (PNDS) are mandatory French clinical practice guidelines for rare diseases required by the French national plan for rare diseases. Their purpose is to provide health care professionals with guidance regarding the optimal diagnostic and therapeutic management of patients affected with a rare disease; and thus, harmonizing their management nationwide. PNDS are usually developed through a critical literature review and a multidisciplinary expert consensus. The purpose of this article is to present the French guidelines on NF1, making them even more available to the international medical community. We further dwelled on the emerging new evidence that might have therapeutic potential or a strong impact on NF1 management in the coming feature. Given the complexity of the disease, the management of children and adults with NF1 entails the full complement healthcare providers and communication among the various specialties.

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“…Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder, involving approximately until one subject every 2000 [1]. The NF1 gene is an oncosuppressor with 60 exons, spanning 350 kb on 17q11.2 region.…”

Section: Introductionmentioning

confidence: 99%

Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)

et al. 2018

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In patients with neurofibromatosis type 1 (NF1), decreased bone mineral density (BMD) and low levels of 25-hydroxy vitamin D3 (25OHD) have been reported. Recently, the trabecular bone score (TBS) measurement has been proposed as index of bone microarchitecture and fracture risk. In 74 NF1 patients (48 females, 26 males, age 41 ± 12), we measured TBS and investigated clinical stage, lifestyle, vitamin D, serum bone turnover markers, vertebral and femoral BMD. A homogenous cohort of 61 healthy subjects was used as control group. TBS was lower in NF1 patients (1.266 ± 0.113 vs. 1.346 ± 0.105) without differences between sexes. No correlations with 25OHD, low exercise, low calcium intake, reduced sun exposure, and number of skin neurofibromas were observed. As expected, hypovitaminosis D was common (98.6%), as well as BMD reduction in hip and spine sites: In NF1 patients, bone texture evaluated by TBS was low in both sexes without any correlation with clinical or metabolic parameters, suggesting a direct role of the fibromin mutation.

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Prevalence of neurofibromatosis type 1 in the Finnish population

Abstract: NF1 is a much more common disorder than previously thought. A large proportion of NF1 patients may not be correctly identified by health-care systems or they do not seek secondary health care for their NF1.

Cited by 107 publications

References 17 publications

Pediatric malignancies in neurofibromatosis type 1: A population‐based cohort study

Pediatric malignancies in neurofibromatosis type 1: A population‐based cohort study

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)

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