Neurofibromatosis in Children: Actually and Perspectives

Sur, Maria Lucia; Armat, Ionel; Sur, Genel; Pop, Diana-Cristina; Samaşcă, Gabriel; Lupan, Iulia; Florian, Ioan‐Alexandru; Sur, Daniel

doi:10.3390/children9010040

Cited by 5 publications

(6 citation statements)

References 64 publications

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“…Patients with NF1 typically have café-au-lait spots, Lisch nodules, and axillary or inguinal freckles. Moreover, motor/speech delays, autism spectrum disorders and scoliosis are also observed [ 71 ]. Pinti et al estimated the efficiency of the National Institutes of Health clinical diagnostic criteria.…”

Section: Syndromes Predisposing To Haematological Malignanciesmentioning

confidence: 99%

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Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies—A Review

Filipiuk

Kozakiewicz

Kośmider

et al. 2022

Cancers

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The view of paediatric cancer as a genetic disease arises as genetic research develops. Germline mutations in cancer predisposition genes have been identified in about 10% of children. Paediatric cancers are characterized by heterogeneity in the types of genetic alterations that drive tumourigenesis. Interactions between germline and somatic mutations are a key determinant of cancer development. In 40% of patients, the family history does not predict the presence of inherited cancer predisposition syndromes and many cases go undetected. Paediatricians should be aware of specific symptoms, which highlight the need of evaluation for cancer syndromes. The quickest possible identification of such syndromes is of key importance, due to the possibility of early detection of neoplasms, followed by presymptomatic genetic testing of relatives, implementation of appropriate clinical procedures (e.g., avoiding radiotherapy), prophylactic surgical resection of organs at risk, or searching for donors of hematopoietic stem cells. Targetable driver mutations and corresponding signalling pathways provide a novel precision medicine strategy.Therefore, there is a need for multi-disciplinary cooperation between a paediatrician, an oncologist, a geneticist, and a psychologist during the surveillance of families with an increased cancer risk. This review aimed to emphasize the role of cancer-predisposition gene diagnostics in the genetic surveillance and medical care in paediatric oncology.

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Section: Syndromes Predisposing To Haematological Malignanciesmentioning

confidence: 99%

“…Patients have an estimated 60% risk of developing cancers, in comparison to the general population [ 71 ]. NF1 patients have a significantly elevated risk of JMML and account for 10% of children with this type of leukaemia [ 74 ].…”

Section: Syndromes Predisposing To Haematological Malignanciesmentioning

confidence: 99%

Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies—A Review

Filipiuk

Kozakiewicz

Kośmider

et al. 2022

Cancers

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“…NF1 management is extended throughout the patient's (and sometimes family's) life and requires: [4,11] a. Patient and family education.…”

Section: Nf1 Managementmentioning

confidence: 99%

“…x. Asymptomatic children from NF1 families should be ocularly monitored periodically for visual acuity (final at the age of 3), for chromatic sense (definitive at the age of 5), for visual field (definitive at the age of 8), correlated with MRI screening [4].…”

Section: Nf1 Managementmentioning

confidence: 99%

“…NF1 can be produced by spontaneous or inherited mutation in the NF1 gene encoding neurofibromin, a protein present in neuronal cells. Neurofibromin inhibits the RAS pathway that regulates cell proliferation and differentiation [3,4]. In about half of the cases, the mutation occurs spontaneously (no family member has the disease), and the spontaneously acquired disease is passed on to future generations.…”

Section: Introductionmentioning

confidence: 99%

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"Neurofibromatosis Type 1, Von Recklinghausen Disease - Clinical Features"

Dumitrache

2022

BJSTR

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NF1 is a genetic, multisystemic neuroectodermal disembryoplasia in which the spontaneous or inherited mutation is located on the long arm of chromosome 17 q position 17q 112. NF1 is an autosomal dominant disorder with complete penetration and variable expressiveness characterized by the development of benign and malignant neural and extra neural tumours, "café au lait spots,, lesions in the viscera, skeleton, mental and cognitive disorders and adaptation difficulties. At the ocular level, NF1 is most frequently objectified by optical glioma and the presence of tumours on the conjunctiva, iris (Lisch nodules), choroid, retina. NF1 management is extended throughout the patients' life and requires periodic clinical monitoring by neurologist, ophthalmologist, internist, simultaneously with CT scan, brain, spinal, abdominal, thoracic MRI to highlight tumours and to monitor tumour progression. NF1 cannot be cured but requires symptomatic treatment for the presence and spread of tumours and their complications, pain management, chemotherapy in optic gliomas, management of psychiatric disorders, surgical treatment indicated in extensive tumours (eyelid, brain, pheochromocytoma) and / or radiotherapy (limited for possible malignancy), laser surgery. Management of optic gliomas, although benign tumours, is difficult, symptomatic gliomas of the optic nerve with documented progression have indication for resection. Permanent clinical and imaging multidisciplinary monitoring is essential for a correct diagnosis, clinical course of the disease and appropriate treatment of NF1. NF1 is a polymorphic condition with variable, evolving, severe clinical features, sometimes life-threatening.

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Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden

Kampitsi,

Nordgren,

Mogensen

et al. 2023

JAMA Netw Open

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ImportanceNeurocutaneous syndromes are associated with cancer predisposition and sometimes associated with perinatal factors. A better understanding of the association between neurocutaneous syndromes, perinatal factors, and childhood cancer is key for earlier cancer detection.ObjectiveTo evaluate the association of neurocutaneous syndromes and perinatal factors with childhood cancer risk in a cohort of Swedish children.Design, Setting, and ParticipantsIn this nationwide cohort study, all children and adolescents up to age 20 years, from 1973 to 2015, were identified through the Swedish National Medical Birth Register (MBR), provided they had information on both biological parents. Analyses were conducted from April 2021 through May 2023.ExposuresDiagnoses of neurocutaneous syndromes were obtained from the MBR, National Patient Register, and Cause of Death register. Perinatal factors (birth weight, gestational age, birth weight by gestational age, 5-minute Apgar score, and head circumference) were obtained from the MBR.Main Outcomes and MeasuresChildhood cancer risk (&lt;20 years at diagnosis; identified from the National Cancer Register), including leukemia, lymphoma, and central nervous system (CNS) tumors.ResultsAmong 4 173 108 included children (2 143 133 [51.4%] male, median [IQR] follow-up 20 [9.7-20] years), 1783 had neurofibromatosis type 1 (NF1), 444 tuberous sclerosis, 63 von Hippel-Lindau disease, and 39 ataxia-telangiectasia. An increased cancer risk was observed among children with any neurocutaneous syndrome (HR, 34.9; 95% CI, 30.8-39.6) and was particularly pronounced for CNS tumors (HR, 111.7; 95% CI, 96.8-128.8), except among children with ataxia-telangiectasia, where the increased risk was associated with lymphomas (HR, 233.1; 95% CI, 75.0-724.1). Leukemia risk was increased only among children with NF1 (HR, 4.1; 95% CI, 1.7-9.8). Several perinatal factors, including high birth weight, being born large for gestational age, preterm birth, low 5-minute Apgar score, and large head circumference had lesser associations with childhood cancer. Adjusting for neurocutaneous syndromes did not affect these associations.Conclusions and RelevanceIn this nationwide cohort study, neurocutaneous syndromes were associated with an increased risk of childhood cancer, especially CNS tumors. Several perinatal factors had lesser associations with childhood cancer, independently of the presence of neurocutaneous syndromes. Other biological mechanisms likely underlie the association between perinatal factors and childhood cancer.

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Neurofibromatosis in Children: Actually and Perspectives

Cited by 5 publications

References 64 publications

Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies—A Review

Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies—A Review

"Neurofibromatosis Type 1, Von Recklinghausen Disease - Clinical Features"

Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden

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