Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

Fisher, Michael J.; Loguidice, Michael J.; Gutmann, David H.; Listernick, Robert; Ferner, Robin E; Ullrich, Nicole J.; Packer, Roger J.; Tabori, Uri; Hoffman, Robert O.; Ardern‐Holmes, Simone; Hummel, Trent R.; Hargrave, Darren; Bouffet, Éric; Charrow, Joel; Bilaniuk, Larissa T.; Balcer, Laura J.; McGowan, Lucy D’Agostino; Liu, Grant T.

doi:10.1002/ana.24157

Cited by 43 publications

(28 citation statements)

References 2 publications

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“…The present study also suggests a higher cancer SIR among females than males, which is partly due to the seemingly higher incidence of symptomatic OPGs in females. This is in accordance with a previous study showing that females have more symptomatic OPGs, and females with NF1 and OPG are more likely than males to experience visual decline requiring treatment . However, gender differences observed in our study and in previous pediatric cohorts may be compromised by sampling bias.…”

Section: Discussionsupporting

confidence: 92%

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: Discussionsupporting

confidence: 92%

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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“…Another unusual finding in our study is the clear gender distribution of the children diagnosed with GHE, 6/7 patients (85.7%) were male. In contrast, almost all the published studies show a female:male ratio of 2:1 among children with OPG (Fisher et al, ) We do not have an explanation for this different distribution.…”

Section: Discussioncontrasting

confidence: 67%

Growth hormone excess in children with neurofibromatosis type‐1 and optic glioma

Cambiaso

Galassi

Palmiero

et al. 2017

American J of Med Genetics Pt A

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In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Patients with stature and/or height velocity >2 SD for age were studied for GH secretion. Seven out of 64 children (10.9%) with NF1 and optic pathways glioma showed GH excess, isolated in 5 cases and associated to central precocious puberty in 2. All the children with GH excess had a tumor involving the chiasma. Children with GH excess underwent medical treatment with lanreotide and a minimum clinical/biochemical follow up of 2 years is reported. The present study demonstrates that GH excess should be considered as a relative frequent endocrine manifestation in NF1 patients, similarly to central precocious puberty. Therefore, these patients should undergo frequent accurate auxologic evaluations. On the other hand, an increase in height velocity in children with NF1, even despite normal ophthalmological exams, can suggest the presence of OPG and therefore represents an indication to perform brain MRI.

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“…27 Data also have revealed that female patients with OPGs are more likely to progress and require treatment, but both male and female patients should have the same surveillance. [28][29][30] Children with known or suspected NF1 should undergo screening and surveillance ophthalmologic examinations at least annually from the time of diagnosis of NF1 or suspected NF1 by an ophthalmologist familiar with management of NF1, and this examination should be performed more frequently or repeated if there is concern. OPGs most often develop before 6 years of age, when it may be difficult to obtain a reliable ophthalmologic evaluation and when children are less likely to complain of visual symptoms.…”

Section: Gliomas Of the Central Nervous System Optic Pathway Gliomasmentioning

confidence: 99%

Health Supervision for Children With Neurofibromatosis Type 1

et al. 2019

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Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary manifestations emerge. Although NF1 is associated with marked clinical variability, most children affected follow patterns of growth and development within the normal range. Some features of NF1 can be present at birth, but most manifestations emerge with age, necessitating periodic monitoring to address ongoing health and developmental needs and minimize the risk of serious medical complications. In this report, we provide a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of NF1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the health and quality of life of a child affected. Health Supervision for Children With Neurofibromatosis Type 1http://pediatrics.aappublications.org/content/143/5/e20190660 located on the World Wide Web at:The online version of this article, along with updated information and services, is by the

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Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

Cited by 43 publications

References 2 publications

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

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

Growth hormone excess in children with neurofibromatosis type‐1 and optic glioma

Health Supervision for Children With Neurofibromatosis Type 1

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