Neurofibromatosis type 1 and optic pathway glioma: Molecular interplay and therapeutic insights

Khatua, Soumen; Gutmann, David H.; Packer, Roger J.

doi:10.1002/pbc.26838

Cited by 26 publications

(21 citation statements)

References 59 publications

(120 reference statements)

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“…As for NF1 gliomas, these should be differentiated from foci of abnormal signal intensity (FASI), also termed UBOs (unidentified bright objects). These multiple, non-enhancing, small areas without mass effect or edema are benign, and are found in 70% of NF1 pediatric cases [ 52 ].…”

Section: Neurofibromatosis Type 1 (Nf1)mentioning

confidence: 99%

Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes

Michaeli

Tabori

2018

J Korean Neurosurg Soc

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Germline mutations in cancer causing genes result in high risk of developing cancer throughout life. These cancer predisposition syndromes (CPS) are especially prevalent in childhood brain tumors and impact both the patient’s and other family members’ survival. Knowledge of specific CPS may alter the management of the cancer, offer novel targeted therapies which may improve survival for these patients, and enables early detection of other malignancies. This review focuses on the role of CPS in pediatric high grade gliomas (PHGG), the deadliest group of childhood brain tumors. Genetic aspects and clinical features are depicted, allowing clinicians to identify and diagnose these syndromes. Challenges in the management of PHGG in the context of each CPS and the promise of innovative options of treatment and surveillance guidelines are discussed with the hope of improving outcome for individuals with these devastating syndromes.

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Section: Neurofibromatosis Type 1 (Nf1)mentioning

confidence: 99%

Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes

Michaeli

Tabori

2018

J Korean Neurosurg Soc

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“…NF1 is a dominant autosomal disease which is the most common of the neurofibromatoses (typically 1 in 3500 births) and has manifestations such as skin lesions, involvement of the central nervous system, skeletal lesions and effects on the endocrine glands [3, 4]. The preliminary symptoms of the disease are skin lesions in the form of Café au lait spots; this type of neurofibromatosis is also known by the name of Von Recklinghausen disease [5, 6]. Other manifestations including pigmentary abnormalities, low-grade gliosis, skeletal dysplasia, and the involvement of numerous other organ systems are seen in NF1 patients [3–6].…”

Section: Introductionmentioning

confidence: 99%

“…The preliminary symptoms of the disease are skin lesions in the form of Café au lait spots; this type of neurofibromatosis is also known by the name of Von Recklinghausen disease [5, 6]. Other manifestations including pigmentary abnormalities, low-grade gliosis, skeletal dysplasia, and the involvement of numerous other organ systems are seen in NF1 patients [3–6]. Many of the serious complications of NF1 including orthopedics problems, disfiguring plexiform neurofibromas, optic pathway gliosis, renal artery stenosis and cognitive impairment occur in childhood [7].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study

et al. 2019

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Background The neurofibromatoses (NF) are a group of genetic disorders that interfere negatively with the quality of life (QoL) and influence physical, emotional and social statuses. Studying the effects of neurofibromatoses on various aspects of QoL seems important to implement beneficial strategies in increasing the QoL of NF patients. The aim of this study was to review the literature on quality of life in patients with NF and quantitatively evaluate the effects of Neurofibromatosis on various aspects of quality of life by synthesizing available studies. Methods This article is written according to the PRISMA checklist. Different databases including PubMed, Scopus, Google scholar and Web of Science were searched to identify studies that examined QoL of patients with neurofibromatosis. The relevant data obtained from these papers were analyzed by a random-effects model. The heterogeneity of studies was calculated using the I 2 index and Egger test was used to determine publication bias. The information was analyzed by R and STATA Ver 14. Results Twelve studies were selected as eligible for this research and were included in the final analysis. The number of participants in the study was 7314 individuals containing 910 NF patients (642 NF1 and 268 NF2) and 6404 healthy subjects. The mean scores of sub-scales of QoL were significantly lower in NF patients compared with control except for the scale of cohesion. Family and NF patients had lower quality of life in all aspects of QoL than controls. Also, this meta-analysis shows that NF negatively effects on physical function, bodily pain, mental health, social function and general health. Subgroup analysis showed that NF had negative effects on all sub-scales of QoL if the study was conducted in adults and used a SF-36 questionnaire. Conclusion This meta-analysis suggests that NF is a broad spectrum disease, affecting physical function, bodily pain, mental health, social function and general health.

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“…These are benign lesions, usually multiple and radiologically characterized as nonenhancing, small areas without mass effect or edema. They can be found in around 70% of NF1 pediatric cases and must be differentiated from gliomas (31).…”

Section: Etiopathologymentioning

confidence: 99%