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Background: Neurofibromatosis type 1 (NF1) is associated with a high risk for cancer. Benign cutaneous neurofibromas of women with NF1 may increase in size and number during pregnancy. However, it is not known whether pregnancy affects the risk for cancer in NF1., Methods: We retrieved the pregnancies of women in the Finnish NF1 cohort and in a 10-fold control cohort from the Finnish Medical Birth Register. Cancers occurring during or after pregnancy were obtained from the Finnish Cancer Registry and summarized using standardized incidence ratio (SIR). The cancer incidence of nonNF1 mothers of individuals with NF1 was also estimated., Results: Totals of 263 pregnancies in 136 women with NF1 and 3176 pregnancies in 1720 controls were observed. In the NF1 group, two cancers were identified during pregnancy and the year following the delivery (SIR 6.44, 95% CI 1.07-19.89). Among controls, the SIR was markedly lower (0.25, 95% CI 0.01-1.08). Within 1-10 years after pregnancy, the SIR of women with NF1 was 7.54 (95% CI 4.15-12.41). The SIR of women with NF1 aged 20-49 years, and without a known history of deliveries was 8.63 (95% CI 6.08-11.81). The nonNF1 mothers displayed a SIR of 0.81 (95% CI 0.66-1.00) after giving birth to a child with NF1., Conclusions: The pregnancy-related cancer incidence in women with NF1 is similar to women with NF1 aged 20-49 years overall, although notably higher than in the general population. Giving birth to a child with NF1 does not affect the risk for cancer in women without NF1., (© 2025 The Author(s). Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.)

Various forms of oral involvement have been reported in patients with neurofibromatosis 1 (NF1). Here, we analyze register-based associations between NF1 and hospital visits related to oral infections. The Finnish NF1 cohort encompasses all individuals with verified NF1 who have visited the Finnish central and university hospitals in 1987-2011. The Finnish Care Register for Health Care allowed the follow-up of 1349 individuals with NF1, their 1894 siblings without NF1, and 13,870 matched controls for diagnoses related to oral infections in 1998-2014. We observed clearly increased hazards for hospital visits associated with dental caries (ICD-10 K02; NF1 vs. controls, hazard ratio [HR] 4.42, 95% CI 3.23-6.04), diseases of pulp and periapical tissues (K04; HR 3.85, 95% CI 2.68-5.54), and gingivitis and periodontal diseases (K05; HR 3.63, 95% CI 2.37-5.56). In contrast, hospital visits related to diseases of salivary glands (K11), and stomatitis and related lesions (K12) did not show significantly increased hazard in NF1 compared with the controls or the non-NF1 siblings. In conclusion, the findings suggest that hospital visits related to oral infections are relatively common among individuals with NF1. The results highlight the need for early detection, proactive prevention, and timely treatment of oral infections in individuals with NF1., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Neurofibromatosis 1 (NF1) is an inherited, autosomal-dominant, tumor predisposition syndrome with a birth incidence as high as 1:2000. A patient with NF1 is four to five times more likely to develop a malignancy as compared to the general population. The number of epidemiologic studies on lymphoproliferative malignancies in patients with NF1 is limited. The aim of this study was to determine the incidence rate of lymphoproliferative malignancies (lymphoma and leukemia) in NF1 patients followed in our referral center for neurofibromatoses. We used the Informatics for Integrated Biology and the Bedside (i2b2) platform to extract information from the hospital's electronic health records. We performed a keyword search on clinical notes generated between Jan/01/2014 and May/11/2020 for patients aged 18 years or older. A total of 1507 patients with confirmed NF1 patients aged 18 years and above were identified (mean age 39.2 years; 57% women). The total number of person-years in follow-up was 57,736 (men, 24,327 years; women, 33,409 years). Mean length of follow-up was 38.3 years (median, 36 years). A total of 13 patients had a medical history of either lymphoma or leukemia, yielding an overall incidence rate of 22.5 per 100,000 (0.000225, 95% confidence interval (CI) 0.000223-0.000227). This incidence is similar to that of the general population in France (standardized incidence ratio 1.07, 95% CI 0.60-1.79). Four patients had a medical history leukemia and 9 patients had a medical history of lymphoma of which 7 had non-Hodgkin lymphoma, and 2 had Hodgkin lymphoma. Our results show that adults with NF1 do not have an increased tendency to develop lymphoproliferative malignancies, in contrast to the general increased risk of malignancy. While our results are consistent with the recent population-based study in Finland, they are in contrast with the larger population-based study in England whereby NF1 individuals were found to be 3 times more likely to develop both non-Hodgkin lymphoma and lymphocytic leukemia. Large-scale epidemiological studies based on nationwide data sets are thus needed to confirm our findings. [ABSTRACT FROM AUTHOR]

Background: We aimed to analyze hypertension in neurofibromatosis type 1 (NF1) in a Finnish population-based cohort in 1996-2014., Methods: A cohort of 1365 individuals with confirmed NF1 was compared with a control cohort of 13,923 individuals matched for age, sex, and area of residence. Diagnoses of hypertension were retrieved from the Finnish Care Register for Health Care. These registered data were separately analyzed for secondary and essential hypertension. Purchases of antihypertensive drugs were queried from the Finnish Register of Reimbursed Drug Purchases., Results: We identified 115 NF1 patients with hospital diagnosis of hypertension. Our findings revealed a hazard ratio (HR) of 1.64 (95% CI 1.34-2.00, p < 0.001) in NF1 versus controls. NF1 patients presented with a significantly increased hazard for both secondary hypertension (n = 9, HR 3.76, 95% CI 1.77-7.95, p < 0.001) and essential hypertension (n = 98, HR 1.73, 95% CI 1.39-2.14, p < 0.001). No difference in the HR of hypertension was observed between men and women, while NF1 patients with essential hypertension were, on average, younger than the controls. The proportions of individuals with antihypertensive medication did not differ between NF1 patients and controls (OR 0.85)., Conclusion: NF1 is a risk factor for hypertension. Despite the recognized risk for secondary hypertension, essential hypertension is the predominant type in NF1., (© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Neurofibromatosis type 1 ( NF1) is a common, hereditary, neurocutaneous skeletal condition with a variety of osseous manifestations. Although NF1 also affects craniofacial structures, the literature has only limited information related to the effect of NF1 on dental development. In this study the dental age of 34 Finnish NF1 patients, 8-17 yr of age, was estimated using the Demirjian & Goldstein method. The dental age of children with NF1 was similar to that of a Finnish control population. The findings suggest that NF1 does not affect the timing of tooth development. [ABSTRACT FROM AUTHOR]

Cutaneous neurofibromas (cNF) are one of the hallmarks of neurofibromatosis 1 (NF1). The number of cNFs varies between individuals from a few to hundreds or even thousands and increases throughout adult life. cNFs cause a significant disease burden to adult patients and constitute an unmet need for therapy, since they may cause itch and pain and, being conspicuous and unsightly, stigmatize the patient. There is a lack of reports on how the outcome of various treatment options are perceived by the patients. Here we describe a technique for cNF removal using CO 2 laser, and report how patients experience the procedure. Questionnaires were sent to patients who had had CO 2 laser surgery in the French Referral Center for Neurofibromatoses, and in the Turku University Hospital, Finland, to retrospectively evaluate the patients' global satisfaction of the procedure, treatment indications, and reasons for withdrawal from treatment, if this was the case. The number of returned questionnaires was 233/473 in France and 23/27 in Finland. The results showed that the most important indications for cNF removal were esthetic, and pain and itch caused by the tumors. In general, the procedure was well tolerated, and the degree of satisfaction was 8–10 on a scale from 0 to 10. For those 30% who discontinued the tumor removal program, the main reasons were organizational constraints, a non-satisfactory esthetic result, too many cNFs to treat, or problems with healing. Thus, the CO 2 laser method is well tolerated but does not fully answer to the needs of the patients. Since medical treatment is not yet available, we encourage the use of laser removal of cNFs as a feasible method to decrease the tumor burden of the patients. [ABSTRACT FROM AUTHOR]

Rare heritable syndromes may affect educational attainment. Here, we study education in neurofibromatosis 1 (NF1) that is associated with multifaceted medical, social and cognitive consequences. Educational attainment in the Finnish population-based cohort of 1408 individuals with verified NF1 was compared with matched controls using Cox proportional hazards model with delayed entry and competing risk for death. Moreover, models accounting for the effects of cancer at age 15-30 years, parental NF1 and developmental disorders were constructed. Overall, the attainment of secondary education was reduced in individuals with NF1 compared to controls (hazard ratio 0.83, 95%CI 0.74-0.92). History of cancer and developmental disorders were major predictors of lack of secondary education. Individuals with NF1 obtained vocational secondary education more often than general upper secondary education. Consequently, NF1 decreased the attainment of Bachelor's and Master's degrees by 46%-49% and 64%-74%, respectively. Surprisingly, the non-NF1 siblings of individuals with NF1 also had lower educational attainment than controls, irrespective of parental NF1. In conclusion, NF1 is associated with reduced educational attainment and tendency for affected individuals to obtain vocational instead of academic education. Individuals living with NF1, especially those with cancer, developmental disorders or familial NF1, need effective student counseling and learning assistance., (© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

The epidemiology of heritable traits whose prevalence is determined by a balance between mutation and selection is often explored through deterministic models. Here, the properties are explored by simulation of a model population followed through a sequence of closely spaced time points. Mutation and birth and death occur randomly. The condition neurofibromatosis type 1 (NF1) is used as a point of reference. Critical parameters, such as mutation rates and selection forces, are not known precisely for NF1 so speculative values based on published data from Finland and other studies are proposed.